{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T07:31:13Z","timestamp":1793431873741,"version":"4.5.0"},"reference-count":188,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2015,1]]},"DOI":"10.1016\/j.ejmg.2014.10.004","type":"journal-article","created":{"date-parts":[[2014,11,4]],"date-time":"2014-11-04T20:56:54Z","timestamp":1415134614000},"page":"1-10","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":408,"title":["Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: Epidemiology, metabolism and the associated diseases"],"prefix":"10.1016","volume":"58","author":[{"given":"Siaw-Cheok","family":"Liew","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3744-3943","authenticated-orcid":false,"given":"Esha Das","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2014.10.004_bib1","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1093\/qjmed\/89.6.437","article-title":"Genetic analysis of thermolabile methylenetetrahydrofolate reductase as a risk factor for myocardial infarction","volume":"89","author":"Adams","year":"1996","journal-title":"QJM"},{"key":"10.1016\/j.ejmg.2014.10.004_bib2","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.gene.2013.02.017","article-title":"ACE I\/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis","volume":"520","author":"Al-Rubeaan","year":"2013","journal-title":"Gene"},{"key":"10.1016\/j.ejmg.2014.10.004_bib3","doi-asserted-by":"crossref","first-page":"1881","DOI":"10.1016\/j.fct.2010.04.028","article-title":"Breast cancer risk, dietary intake, and methylenetetrahydrofolate reductase (MTHFR) single nucleotide polymorphisms","volume":"48","author":"Alshatwi","year":"2010","journal-title":"Food Chem Toxicol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib4","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1002\/(SICI)1096-8628(19970919)74:5<526::AID-AJMG14>3.0.CO;2-E","article-title":"Methylenetetrahydrofolate reductase variant and schizophrenia\/depression","volume":"74","author":"Arinami","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib5","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1002\/(SICI)1096-8628(19980724)78:4<332::AID-AJMG5>3.0.CO;2-N","article-title":"Prevalence of the mutation C677 > T in the methylene tetrahydrofolate reductase gene among distinct ethnic groups in Brazil","volume":"78","author":"Arruda","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib6","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1186\/1471-2377-13-103","article-title":"Effects of MTHFR gene polymorphism on the clinical and electrophysiological characteristics of migraine","volume":"13","author":"Azimova","year":"2013","journal-title":"BMC Neurol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib7","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0110093","article-title":"A\u00a0lower degree of PBMC L1 methylation in women with lower folate status may explain the MTHFR C677T polymorphism associated higher risk of CIN in the US post folic acid fortification era","volume":"9","author":"Badiga","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.ejmg.2014.10.004_bib8","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1016\/j.ejca.2009.01.020","article-title":"MTHFR C677T polymorphism contributes to prostate cancer risk among Caucasians: a meta-analysis of 3511 cases and 2762 controls","volume":"45","author":"Bai","year":"2009","journal-title":"Eur J Cancer"},{"key":"10.1016\/j.ejmg.2014.10.004_bib9","first-page":"119","article-title":"Study of the relationship between psoriasis and the polymorphic site C677T of methylenetetrahydrofolate reductase","volume":"15","author":"Baiqiu","year":"2000","journal-title":"Chin Med Sci J"},{"key":"10.1016\/j.ejmg.2014.10.004_bib10","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/s10038-006-0098-x","article-title":"Association of gene polymorphism with genetic susceptibility to stroke in Asian populations: a meta-analysis","volume":"52","author":"Banerjee","year":"2007","journal-title":"J\u00a0Hum Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib11","first-page":"1","article-title":"Significance of MTHFR gene variants in acute lymphoblastic leukemia in Indian population: an experimental, computational and meta-analysis","volume":"12","author":"Bellampalli","year":"2014","journal-title":"Leuk Lymphoma"},{"key":"10.1016\/j.ejmg.2014.10.004_bib12","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.canlet.2008.07.026","article-title":"Meta-analyses of the methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and risk of head and neck and lung cancer","volume":"273","author":"Boccia","year":"2009","journal-title":"Cancer Lett"},{"key":"10.1016\/j.ejmg.2014.10.004_bib13","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1093\/aje\/kwm344","article-title":"Meta- and pooled analyses of the methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and gastric cancer risk: a huge-GSEC review","volume":"167","author":"Boccia","year":"2008","journal-title":"Am J Epidemiol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib14","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1056\/NEJMoa055227","article-title":"Homocysteine lowering and cardiovascular events after acute myocardial infarction","volume":"354","author":"Bonaa","year":"2006","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.ejmg.2014.10.004_bib15","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1111\/j.1753-4887.1996.tb03851.x","article-title":"Folate, vitamin B12, and neuropsychiatric disorders","volume":"54","author":"Bottiglieri","year":"1996","journal-title":"Nutr Rev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib16","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1093\/oxfordjournals.aje.a010290","article-title":"5, 10-methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review","volume":"151","author":"Botto","year":"2000","journal-title":"Am J Epidemiol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib17","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1055\/s-0037-1615100","volume":"79","author":"Bowen","year":"1998","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.ejmg.2014.10.004_bib18","doi-asserted-by":"crossref","first-page":"2520","DOI":"10.1161\/01.CIR.98.23.2520","article-title":"Common methylenetetrahydrofolate reductase gene mutation leads to hyperhomocysteinemia but not to vascular disease: the result of a meta-analysis","volume":"98","author":"Brattstr\u00f6m","year":"1998","journal-title":"Circulation"},{"key":"10.1016\/j.ejmg.2014.10.004_bib19","doi-asserted-by":"crossref","first-page":"861","DOI":"10.3892\/br.2014.357","article-title":"Association between Hcy levels and the CBS844 ins68 and MTHFR C677T polymorphisms with essential hypertension","volume":"2","author":"Cai","year":"2014","journal-title":"Biomed Rep"},{"key":"10.1016\/j.ejmg.2014.10.004_bib20","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1055\/s-0037-1615086","article-title":"Frequency of factor V (FV) Leiden and C677T methylenetetrahydrofolate reductase (MTHFR) mutations in Colombians","volume":"79","author":"Camacho Vanegas","year":"1998","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.ejmg.2014.10.004_bib21","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.gene.2012.10.091","article-title":"Association study between methylenetetrahydrofolate reductase polymorphisms and unexplained recurrent pregnancy loss: a meta-analysis","volume":"514","author":"Cao","year":"2013","journal-title":"Gene"},{"key":"10.1016\/j.ejmg.2014.10.004_bib22","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.3109\/0886022X.2013.810542","article-title":"Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and susceptibility to diabetic nephropathy in Chinese type 2 diabetic patients: a meta-analysis","volume":"35","author":"Chang","year":"2013","journal-title":"Ren Fail"},{"key":"10.1016\/j.ejmg.2014.10.004_bib23","first-page":"4862","article-title":"A\u00a0methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer","volume":"56","author":"Chen","year":"1996","journal-title":"Cancer Res"},{"key":"10.1016\/j.ejmg.2014.10.004_bib24","article-title":"Impact of methylenetetrahydrofolate reductase polymorphisms and folate intake on the risk of gastric cancer and their association with Helicobacter pylori infection and tumor site","volume":"13","author":"Chen","year":"2014","journal-title":"Genet Mol Res"},{"key":"10.1016\/j.ejmg.2014.10.004_bib25","doi-asserted-by":"crossref","first-page":"2491","DOI":"10.7314\/APJCP.2012.13.6.2491","article-title":"MTHFR C667T polymorphism association with lung cancer risk in Henan province: a case-control study","volume":"13","author":"Cheng","year":"2012","journal-title":"Asian Pac J Cancer Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib26","first-page":"139","article-title":"Methylenetetrahydrofolate reductase genotypes do not play a role in acute lymphoblastic leukemia pathogenesis in the Italian population","volume":"89","author":"Chiusolo","year":"2004","journal-title":"Haematologica"},{"key":"10.1016\/j.ejmg.2014.10.004_bib27","first-page":"2413S","article-title":"Folate status: effects on pathways of colorectal carcinogenesis","volume":"132","author":"Choi","year":"2002","journal-title":"J\u00a0Nutr"},{"key":"10.1016\/j.ejmg.2014.10.004_bib28","doi-asserted-by":"crossref","first-page":"e1001177","DOI":"10.1371\/journal.pmed.1001177","article-title":"Homocysteine and coronary heart disease: meta-analysis of MTHFR case-control studies, avoiding publication bias","volume":"9","author":"Clarke","year":"2012","journal-title":"PLoS Med"},{"key":"10.1016\/j.ejmg.2014.10.004_bib29","doi-asserted-by":"crossref","first-page":"2528","DOI":"10.1158\/1055-9965.EPI-09-0223","article-title":"Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis","volume":"18","author":"Collin","year":"2009","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib30","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/S0021-9258(19)68337-7","article-title":"Purification and properties of methylenetetrahydrofolate reductase from pig liver","volume":"257","author":"Daubner","year":"1982","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.ejmg.2014.10.004_bib31","first-page":"4805","article-title":"Interaction of MTHFR C677T and A1298C, and MTR A2756G gene polymorphisms in breast cancer risk in a population in Northeast Brazil","volume":"32","author":"de C\u00e1ssia Carvalho Barbosa","year":"2012","journal-title":"Anticancer Res"},{"key":"10.1016\/j.ejmg.2014.10.004_bib32","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1136\/jmg.35.12.1009","article-title":"The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy","volume":"35","author":"de Franchis","year":"1998","journal-title":"Med Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib33","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1093\/oxfordjournals.aje.a009363","article-title":"Relation of three genetic traits to venous thrombosis in an African-American population","volume":"147","author":"Dilley","year":"1998","journal-title":"Am J Epidemiol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib34","doi-asserted-by":"crossref","first-page":"3937","DOI":"10.7314\/APJCP.2012.13.8.3937","article-title":"MTHFR C677T polymorphism and ovarian cancer risk: a meta-analysis","volume":"13","author":"Ding","year":"2012","journal-title":"Asian Pac J Cancer Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib35","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.arcmed.2010.01.001","article-title":"Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and gastric cancer: a meta-analysis","volume":"41","author":"Dong","year":"2010","journal-title":"Arch Med Res"},{"key":"10.1016\/j.ejmg.2014.10.004_bib36","doi-asserted-by":"crossref","first-page":"318483","DOI":"10.1155\/2014\/318483","article-title":"MTHFR gene polymorphism and age of onset of schizophrenia and bipolar disorder","volume":"2014","author":"El-Hadidy","year":"2014","journal-title":"Biomed Res Int"},{"key":"10.1016\/j.ejmg.2014.10.004_bib37","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1159\/000076460","article-title":"Polymorphisms in the MTHFR gene are associated with breast cancer","volume":"24","author":"Ergul","year":"2003","journal-title":"Tumour Biol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib38","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1111\/j.1530-0277.2008.00816.x","article-title":"MTHFR C677T polymorphism and risk of HCC in patients with liver cirrhosis: role of male gender and alcohol consumption","volume":"33","author":"Fabris","year":"2009","journal-title":"Alcohol Clin Exp Res"},{"key":"10.1016\/j.ejmg.2014.10.004_bib39","first-page":"1861","article-title":"Systematic review on the relationship between genetic polymorphisms of methylenetetrahydrofolate reductase and esophageal squamous cell carcinoma","volume":"12","author":"Fang","year":"2011","journal-title":"Asian Pac J Cancer Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib40","first-page":"657","article-title":"Analysis of relation between C677T genotype in MTHFR gene and prostatic cancer in Iranian males","volume":"50","author":"Fard-Esfahani","year":"2012","journal-title":"Acta Med Iran"},{"key":"10.1016\/j.ejmg.2014.10.004_bib41","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1023\/A:1005369109055","article-title":"Disorders of homocysteine metabolism","volume":"20","author":"Fowler","year":"1997","journal-title":"J\u00a0Inherit Metab Dis"},{"key":"10.1016\/j.ejmg.2014.10.004_bib42","doi-asserted-by":"crossref","first-page":"3046","DOI":"10.1182\/blood-2004-03-0897","article-title":"Methylenetetrahydrofolate reductase gene polymorphism (C677T) hyperhomocystenaemia, and risk of ischaemic cardiovascular disease and venous thromboembolism: prospective and case control studies from the Copenhagen City heart study","volume":"104","author":"Frederiksen","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.ejmg.2014.10.004_bib189","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.jns.2012.07.038","article-title":"Association of MTHFR 677T variant allele with risk of intracerebral haemorrhage: a meta-analysis","volume":"323","author":"Gao","year":"2012","journal-title":"J Neurol Sci."},{"key":"10.1016\/j.ejmg.2014.10.004_bib43","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1158\/1055-9965.787.13.5","article-title":"Common gene polymorphisms in the metabolic folate and methylation pathway and the risk of acute lymphoblastic leukemia and non-Hodgkin's lymphoma in adults","volume":"13","author":"Gemmati","year":"2004","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib44","doi-asserted-by":"crossref","first-page":"2313","DOI":"10.1016\/S0959-8049(00)00306-3","article-title":"Association of the C677T polymorphism in the MTHFR gene with breast and\/or ovarian cancer risk in Jewish women","volume":"36","author":"Gershoni-Baruch","year":"2000","journal-title":"Eur J Cancer"},{"key":"10.1016\/j.ejmg.2014.10.004_bib45","first-page":"1","article-title":"Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric disorders: a HuGE review","volume":"65","author":"Gilbody","year":"2007","journal-title":"Am J Epidemiol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib46","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/j.canlet.2006.11.021","article-title":"Gene polymorphisms of folate metabolizing enzymes and the risk of gastric cancer","volume":"251","author":"G\u00f6tze","year":"2007","journal-title":"Cancer Lett"},{"key":"10.1016\/j.ejmg.2014.10.004_bib47","doi-asserted-by":"crossref","first-page":"e153","DOI":"10.1016\/j.thromres.2009.10.019","article-title":"MTHFR and the risk for cerebral venous thrombosis\u2013a meta-analysis","volume":"125","author":"Gouveia","year":"2010","journal-title":"Thromb Res"},{"key":"10.1016\/j.ejmg.2014.10.004_bib48","first-page":"1268","article-title":"Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR","volume":"59","author":"Goyette","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib49","first-page":"1052","article-title":"Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype\/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency","volume":"56","author":"Goyette","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib50","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1007\/s003359900838","article-title":"Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)","volume":"9","author":"Goyette","year":"1998","journal-title":"Mamm Genome"},{"key":"10.1016\/j.ejmg.2014.10.004_bib51","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/ng0694-195","article-title":"Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping, and mutation identification","volume":"7","author":"Goyette","year":"1994","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib52","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1007\/s12094-013-1126-x","article-title":"Association of MTHFR C677T polymorphisms and colorectal cancer risk in Asians: evidence of 12,255 subjects","volume":"16","author":"Guo","year":"2014","journal-title":"Clin Transl Oncol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib53","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1038\/tpj.2014.10","article-title":"Association between methylenetetrahydrofolate reductase polymorphisms and the relapse of acute lymphoblastic leukemia: a meta-analysis","volume":"14","author":"He","year":"2014","journal-title":"Pharmacogenomics J"},{"key":"10.1016\/j.ejmg.2014.10.004_bib54","article-title":"MTHFR C677T polymorphism affects normotensive diastolic blood pressure independently of blood lipids","author":"Heifetz","year":"2014","journal-title":"Am J Hypertens"},{"key":"10.1016\/j.ejmg.2014.10.004_bib55","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/sj.ejhg.5200283","article-title":"Mortality risk in men is associated with a common mutation in the methylenetetrahydrofolate reductase gene (MTHFR)","volume":"7","author":"Heijmans","year":"1999","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib56","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1631\/jzus.B1200101","article-title":"Methylenetetrahydrofolate reductase C677T polymorphism predicts response and time to progression to gemcitabine-based chemotherapy for advanced non-small cell lung cancer in a Chinese Han population","volume":"14","author":"Hong","year":"2013","journal-title":"J\u00a0Zhejiang Univ Sci B"},{"key":"10.1016\/j.ejmg.2014.10.004_bib57","doi-asserted-by":"crossref","first-page":"117","DOI":"10.4318\/tjg.2013.0572","article-title":"Decrease in gastric cancer susceptibility by MTHFR C677T polymorphism in Ardabil Province, Iran","volume":"24","author":"Hosseini-Asl","year":"2013","journal-title":"Turk J Gastroenterol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib58","doi-asserted-by":"crossref","first-page":"2025","DOI":"10.7314\/APJCP.2012.13.5.2025","article-title":"Methylenetetrahydrofolate reductase gene C677T polymorphism and lung cancer: an updated meta-analysis","volume":"13","author":"Hou","year":"2012","journal-title":"Asian Pac J Cancer Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib59","article-title":"Methylenetetrahydrofolate reductase (MTHFR) polymorphism susceptibility to schizophrenia and bipolar disorder: an updated meta-analysis","author":"Hu","year":"2014","journal-title":"J\u00a0Neural Transm"},{"key":"10.1016\/j.ejmg.2014.10.004_bib60","doi-asserted-by":"crossref","first-page":"462","DOI":"10.3109\/00207454.2011.578778","article-title":"Association between the MTHFR gene and Alzheimer's disease: a meta-analysis","volume":"121","author":"Hua","year":"2011","journal-title":"Int J Neurosci"},{"key":"10.1016\/j.ejmg.2014.10.004_bib61","first-page":"1833","article-title":"MTHFR gene polymorphisms in bladder cancer in the Turkish population","volume":"12","author":"Izmirli","year":"2011","journal-title":"Asian Pac J Cancer Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib62","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1093\/ajcn\/70.4.495","article-title":"Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome","volume":"70","author":"James","year":"1999","journal-title":"Am J Clin Nutr"},{"key":"10.1016\/j.ejmg.2014.10.004_bib63","doi-asserted-by":"crossref","first-page":"4943","DOI":"10.1007\/s13277-014-1650-5","article-title":"Positive association between MTHFR C677T polymorphism and oral cancer risk: a meta-analysis","volume":"35","author":"Jia","year":"2014","journal-title":"Tumour Biol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib64","doi-asserted-by":"crossref","first-page":"6357","DOI":"10.7314\/APJCP.2013.14.11.6357","article-title":"The MTHFR C677T polymorphism and risk of acute lymphoblastic leukemia: an updated meta-analysis based on 37 case-control studies","volume":"14","author":"Jiang","year":"2013","journal-title":"Asian Pac J Cancer Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib65","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/1746-1596-4-39","article-title":"Association between the methylenetetrahydrofolate reductase C677T polymorphism and hepatocellular carcinoma risk: a meta-analysis","volume":"4","author":"Jin","year":"2009","journal-title":"Diagn Pathol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib66","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1016\/0026-0495(87)90043-6","article-title":"Homocysteinaemia due to folate deficiency","volume":"36","author":"Kang","year":"1987","journal-title":"Metabolism"},{"key":"10.1016\/j.ejmg.2014.10.004_bib67","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1089\/gtmb.2012.0295","article-title":"Association of the C677T polymorphism in the MTHFR gene with hemorrhagic stroke: a meta-analysis","volume":"17","author":"Kang","year":"2013","journal-title":"Genet Test Mol Biomarkers"},{"key":"10.1016\/j.ejmg.2014.10.004_bib68","first-page":"414","article-title":"Intermediate homocysteinaemia: a thermolabile variant of methylenetrahydrofolate reductase","volume":"43","author":"Kang","year":"1988","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib69","first-page":"697","article-title":"Methylenetetrahydrofolate reductase (MTHFR) 677C>T gene polymorphism as a possible factor for reducing clinical severity of psoriasis","volume":"7","author":"Karabacak","year":"2014","journal-title":"Int J Clin Exp Med"},{"key":"10.1016\/j.ejmg.2014.10.004_bib70","doi-asserted-by":"crossref","first-page":"12212","DOI":"10.3748\/wjg.v20.i34.12212","article-title":"Polymorphisms of MTHFR and susceptibility to oesophageal adenocarcinoma in a Caucasian United Kingdom population","volume":"20","author":"Keld","year":"2014","journal-title":"World J Gastroenterol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib71","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.leukres.2008.07.026","article-title":"Association between polymorphisms of folate-metabolizing enzymes and hematological malignancies","volume":"33","author":"Kim","year":"2009","journal-title":"Leuk Res"},{"key":"10.1016\/j.ejmg.2014.10.004_bib72","doi-asserted-by":"crossref","first-page":"2023","DOI":"10.1001\/jama.288.16.2023","article-title":"MTHFR 677C-->T polymorphism and risk of coronary heart disease: a meta-analysis","volume":"288","author":"Klerk","year":"2002","journal-title":"JAMA"},{"key":"10.1016\/j.ejmg.2014.10.004_bib73","first-page":"100","article-title":"Folate intake, alcohol consumption, and the methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism: influence on prostate cancer risk and interactions","volume":"2","author":"Kobayashi","year":"2012","journal-title":"Front Oncol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib74","first-page":"2227","article-title":"MTHFR gene polymorphisms and bladder cancer susceptibility: a meta-analysis including race, smoking status and tumour stage","volume":"12","author":"Kouidhi","year":"2011","journal-title":"Asian Pac J Cancer Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib75","first-page":"2275","article-title":"Effects of the MTHFR C677T polymorphism on prostate specific antigen and prostate cancer","volume":"12","author":"K\u00fc\u00e7\u00fckh\u00fcseyin","year":"2011","journal-title":"Asian Pac J Cancer Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib76","first-page":"2807","article-title":"Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) gene polymorphisms as risk factors for hepatocellular carcinoma in a Korean population","volume":"28","author":"Kwak","year":"2008","journal-title":"Anticancer Res"},{"key":"10.1016\/j.ejmg.2014.10.004_bib77","first-page":"393","article-title":"Selected micronutrient intake and the risk of gastric cancer","volume":"3","author":"La Vecchia","year":"1994","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib78","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1007\/s13277-012-0354-y","article-title":"Association of polymorphisms in one-carbon metabolizing genes with breast cancer risk in Syrian women","volume":"33","author":"Lajin","year":"2012","journal-title":"Tumour Biol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib187","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1158\/1055-9965.EPI-04-0840","article-title":"The MTHFR C677T polymorphism and colorectal cancer: the multiethnic cohort study","volume":"14","author":"Le Marchand","year":"2005","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib79","doi-asserted-by":"crossref","first-page":"2565","DOI":"10.1007\/s13277-013-0802-3","article-title":"Association between MTHFR Ala222Val (rs1801133) polymorphism and bladder cancer susceptibility: a systematic review and meta-analysis","volume":"34","author":"Li","year":"2013","journal-title":"Tumour Biol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib80","doi-asserted-by":"crossref","first-page":"2249","DOI":"10.7314\/APJCP.2012.13.5.2249","article-title":"MTHFR polymorphisms and pancreatic cancer risk: lack of evidence from a meta-analysis","volume":"13","author":"Li","year":"2012","journal-title":"Asian Pac J Cancer Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib81","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1089\/gtmb.2013.0494","article-title":"Effects of MTHFR genetic polymorphisms on toxicity and clinical response of irinotecan-based chemotherapy in patients with colorectal cancer","volume":"18","author":"Li","year":"2014","journal-title":"Genet Test Mol Biomarkers"},{"key":"10.1016\/j.ejmg.2014.10.004_bib82","doi-asserted-by":"crossref","first-page":"1695","DOI":"10.1007\/s13277-013-1234-9","article-title":"Methylenetetrahydrofolate reductase polymorphisms and breast cancer risk in Chinese population: a meta-analysis of 22 case-control studies","volume":"35","author":"Liang","year":"2013","journal-title":"Tumour Biol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib83","first-page":"1195","article-title":"Association of C677T gene polymorphisms of methylenetetrahydrofolate reductase and plasma homocysteine level with hyperlipidemia","volume":"34","author":"Liang","year":"2014","journal-title":"Nan Fang Yi Ke Da Xue Xue Bao"},{"key":"10.1016\/j.ejmg.2014.10.004_bib84","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1475-2891-11-1","article-title":"Association of methylentetraydrofolate reductase (MTHFR) 677 C > T gene polymorphism and homocysteine levels in psoriasis vulgaris patients from Malaysia: a case-control study","volume":"11","author":"Liew","year":"2012","journal-title":"Nutr J"},{"key":"10.1016\/j.ejmg.2014.10.004_bib85","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1590\/S0066-782X2007000200006","article-title":"Homocysteine and methylenetetrahydrofolate reductase in subjects undergoing coronary angiography","volume":"88","author":"Lima","year":"2007","journal-title":"Arq Bras Cardiol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib86","doi-asserted-by":"crossref","first-page":"2060","DOI":"10.4238\/2014.March.24.10","article-title":"Aberrant DNA methylation of the P16, MGMT, and hMLH1 genes in combination with the methylenetetrahydrofolate reductase C677T genetic polymorphism and folate intake in gastric cancer","volume":"13","author":"Lin","year":"2014","journal-title":"Genet Mol Res"},{"key":"10.1016\/j.ejmg.2014.10.004_bib87","doi-asserted-by":"crossref","first-page":"3763","DOI":"10.7314\/APJCP.2012.13.8.3763","article-title":"MTHFR C677T polymorphism and pancreatic cancer risk: a meta-analysis","volume":"13","author":"Liu","year":"2012","journal-title":"Asian Pac J Cancer Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib88","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.gene.2012.11.036","article-title":"Methylenetetrahydrofolate reductase 677TT genotype might be associated with an increased lung cancer risk in Asians","volume":"515","author":"Liu","year":"2013","journal-title":"Gene"},{"key":"10.1016\/j.ejmg.2014.10.004_bib89","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1097\/MAJ.0b013e3182882578","article-title":"Genetic polymorphisms in MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) genes associated with pathological characteristics of prostate cancer in the Ecuadorian population","volume":"346","author":"L\u00f3pez-Cort\u00e9s","year":"2013","journal-title":"Am J Med Sci"},{"key":"10.1016\/j.ejmg.2014.10.004_bib90","doi-asserted-by":"crossref","first-page":"2061","DOI":"10.1007\/s11033-012-1970-8","article-title":"The association between MTHFR C677T polymorphism and ovarian cancer risk: a meta-analysis of 18,628 individuals","volume":"40","author":"Ma","year":"2013","journal-title":"Mol Biol Rep"},{"key":"10.1016\/j.ejmg.2014.10.004_bib91","doi-asserted-by":"crossref","first-page":"2410","DOI":"10.1161\/01.CIR.94.10.2410","article-title":"Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US physicians","volume":"94","author":"Ma","year":"1996","journal-title":"Circulation"},{"key":"10.1016\/j.ejmg.2014.10.004_bib92","first-page":"825","article-title":"A\u00a0polymorphism of the methionine synthase gene: association with plasma folate, vitamin B12, homocyst(e)ine, and colorectal cancer risk","volume":"8","author":"Ma","year":"1999","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib93","doi-asserted-by":"crossref","first-page":"1739","DOI":"10.1161\/01.STR.28.9.1739","article-title":"A\u00a0common polymorphism in the methylenetetrahydrofolate reductase gene, homocysteine, and ischemic cerebrovascular disease","volume":"28","author":"Markus","year":"1997","journal-title":"Stroke"},{"key":"10.1016\/j.ejmg.2014.10.004_bib94","doi-asserted-by":"crossref","first-page":"R91","DOI":"10.1186\/bcr2462","article-title":"MTHFR C677T and postmenopausal breast cancer risk by intakes of one-carbon metabolism nutrients: a nested case-control study","volume":"11","author":"Maruti","year":"2009","journal-title":"Breast Cancer Res"},{"key":"10.1016\/j.ejmg.2014.10.004_bib95","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1086\/301640","article-title":"The frequency of the methylenetetrahydrofolate reductase-gene mutation varies with age in the normal population","volume":"61","author":"Matsushita","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib96","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1159\/000132202","article-title":"The genetics of carotid dissection: meta-analysis of a MTHFR\/C677T common molecular variant","volume":"25","author":"McColgan","year":"2008","journal-title":"Cerebrovasc Dis"},{"key":"10.1016\/j.ejmg.2014.10.004_bib97","doi-asserted-by":"crossref","first-page":"1778","DOI":"10.1016\/j.ophtha.2009.02.033","article-title":"Homocysteine, methylenetetrahydrofolate reductase C677T polymorphism, and risk of retinal vein occlusion: a meta-analysis","volume":"116","author":"McGimpsey","year":"2009","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ejmg.2014.10.004_bib98","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1146\/annurev.genom.7.080505.115648","article-title":"DNA strand break repair and human genetic disease","volume":"8","author":"McKinnon","year":"2007","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib99","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1161\/01.ATV.18.9.1465","article-title":"Methylenetetrahydrofolate reductase gene polymorphism and ischemic stroke in Japanese","volume":"18","author":"Morita","year":"1998","journal-title":"Arterioscler Thromb Vase Biol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib100","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/BF01875985","article-title":"A\u00a0common mutation in methylenetetrahydrofolate reductase gene among the Japanese population","volume":"41","author":"Nishio","year":"1996","journal-title":"Jpn J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib101","doi-asserted-by":"crossref","first-page":"7731","DOI":"10.7314\/APJCP.2014.15.18.7731","article-title":"Methylenetetrahydrofolate reductase Gene Germ-Line C677T and A1298C SNPs are associated with colorectal cancer risk in the Turkish population","volume":"15","author":"Ozen","year":"2014","journal-title":"Asian Pac J Cancer Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib102","doi-asserted-by":"crossref","first-page":"33","DOI":"10.3322\/canjclin.49.1.33","article-title":"Global cancer statistics","volume":"49","author":"Parkin","year":"1999","journal-title":"Cancer J Clin"},{"key":"10.1016\/j.ejmg.2014.10.004_bib103","doi-asserted-by":"crossref","first-page":"1530","DOI":"10.1016\/j.bbi.2010.12.006","article-title":"Meta-analysis of MTHFR gene variants in schizophrenia, bipolar disorder and unipolar depressive disorder: evidence for a common genetic vulnerability?","volume":"25","author":"Peerbooms","year":"2011","journal-title":"Brain Behav Immun"},{"key":"10.1016\/j.ejmg.2014.10.004_bib104","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1086\/302015","article-title":"Heterogeneity in world distribution of the thermolabile C677T mutation in 5,10-methylenetetrahydrofolate reductase","volume":"63","author":"Pepe","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib105","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.cccn.2003.09.016","article-title":"Methylenetetrahydrofolate reductase (MTHFR) C677T gene variant modulates the homocysteine folate correlation in a mild folate-deficient population","volume":"340","author":"Pereira","year":"2004","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.ejmg.2014.10.004_bib106","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1007\/s13277-013-1529-x","article-title":"Associations between methylenetetrahydrofolate reductase polymorphisms and hepatocellular carcinoma risk in Chinese population","volume":"35","author":"Qi","year":"2014","journal-title":"Tumour Biol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib107","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.clinre.2013.10.002","article-title":"Meta-analysis of MTHFR C677T and A1298C gene polymorphisms: association with the risk of hepatocellular carcinoma","volume":"38","author":"Qi","year":"2014","journal-title":"Clin Res Hepatol Gastroenterol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib108","doi-asserted-by":"crossref","first-page":"e56070","DOI":"10.1371\/journal.pone.0056070","article-title":"The association between MTHFR gene polymorphisms and hepatocellular carcinoma risk: a meta-analysis","volume":"8","author":"Qin","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.ejmg.2014.10.004_bib109","doi-asserted-by":"crossref","first-page":"e108552","DOI":"10.1371\/journal.pone.0108552","article-title":"Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk: a meta-analysis from 34 studies","volume":"9","author":"Rai","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.ejmg.2014.10.004_bib110","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1159\/000065076","article-title":"Common C677T polymorphism of the methylenetetrahydrofolate reductase gene and the risk of venous thromboembolism: meta-analysis of 31 studies","volume":"32","author":"Ray","year":"2002","journal-title":"Pathophysiol Haemost Thromb"},{"key":"10.1016\/j.ejmg.2014.10.004_bib111","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1016\/j.clinbiochem.2007.05.005","article-title":"The methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and cancer risk: the Croatian case-control study","volume":"40","author":"Reljic","year":"2007","journal-title":"Clin Biochem"},{"key":"10.1016\/j.ejmg.2014.10.004_bib112","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1086\/338932","article-title":"The frequent 5, 10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in Whites, Japanese and Africans","volume":"70","author":"Rosenberg","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib113","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1002\/(SICI)1096-8628(19990312)83:2<142::AID-AJMG12>3.0.CO;2-Y","article-title":"Decreased proportion of female newborn infants homozygous for the 677 C > T mutation in methylenetetrahydrofolate reductase","volume":"83","author":"Rozen","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib114","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1055\/s-0038-1657581","article-title":"Genetic predisposition to hyperhomocysteinaemia: deficiency of methylenetetrahydrofolate reductase (MTHFR)","volume":"78","author":"Rozen","year":"1997","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.ejmg.2014.10.004_bib115","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1111\/j.1468-2982.2007.01400.x","article-title":"Association of the C677T polymorphism in the MTHFR gene with migraine: a meta-analysis","volume":"13","author":"Rubino","year":"2009","journal-title":"Cephalalgia"},{"key":"10.1016\/j.ejmg.2014.10.004_bib116","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1007\/s00109-005-0020-6","article-title":"SHP-1 promoter 2 methylation in normal epithelial tissues and demethylation in psoriasis","volume":"84","author":"Ruchusatsawat","year":"2006","journal-title":"J\u00a0Mol Med"},{"key":"10.1016\/j.ejmg.2014.10.004_bib117","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1002\/ajmg.b.31160","article-title":"Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and age of onset in schizophrenia: a combined analysis of independent samples","volume":"156","author":"Saetre","year":"2011","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib118","doi-asserted-by":"crossref","first-page":"1645","DOI":"10.1002\/pros.21200","article-title":"Relationship between three polymorphisms of methylenetetrahydrofolate reductase (MTHFR C677T, A1298C, and G1793A) gene and risk of prostate cancer: a case-control study","volume":"70","author":"Safarinejad","year":"2010","journal-title":"Prostate"},{"key":"10.1016\/j.ejmg.2014.10.004_bib119","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1007\/s10549-010-0804-4","article-title":"Genetic polymorphisms in folate and alcohol metabolism and breast cancer risk: a case-control study in Thai women","volume":"123","author":"Sangrajrang","year":"2010","journal-title":"Breast Cancer Res Treat"},{"key":"10.1016\/j.ejmg.2014.10.004_bib120","doi-asserted-by":"crossref","first-page":"7957","DOI":"10.1007\/s11033-012-1641-9","article-title":"The TT genotype of methylenetetrahydrofolate reductase 677C>T polymorphism increases the susceptibility to pediatric ischemic stroke: meta-analysis of the 822 cases and 1,552 controls","volume":"39","author":"Sarecka-Hujar","year":"2012","journal-title":"Mol Biol Rep"},{"key":"10.1016\/j.ejmg.2014.10.004_bib121","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1086\/301836","article-title":"Worldwide distribution of a common methylenetetrahydrofolate reductase mutation","volume":"62","author":"Schneider","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib122","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1111\/j.1526-4610.2009.01570.x","article-title":"MTHFR 677C>T and ACE D\/I polymorphisms in migraine: a systematic review and meta-analysis","volume":"50","author":"Sch\u00fcrks","year":"2010","journal-title":"Headache"},{"key":"10.1016\/j.ejmg.2014.10.004_bib123","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1111\/j.1468-2982.2009.01980.x","article-title":"MTHFR 677C->T and ACE D\/I polymorphisms and migraine attack frequency in women","volume":"13","author":"Schurks","year":"2010","journal-title":"Cephalalgia"},{"key":"10.1016\/j.ejmg.2014.10.004_bib124","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1161\/01.CIR.96.2.412","article-title":"Myocardial infarction in young women in relation to plasma total homocysteine, folate and a common variant in the methylenetetrahydrofolate reductase gene","volume":"96","author":"Schwartz","year":"1997","journal-title":"Circulation"},{"key":"10.1016\/j.ejmg.2014.10.004_bib125","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1146\/annurev.nutr.19.1.217","article-title":"Homocysteine metabolism","volume":"19","author":"Selhub","year":"1999","journal-title":"Annu Rev Nutr"},{"key":"10.1016\/j.ejmg.2014.10.004_bib126","article-title":"Association of ACE and MTHFR genetic polymorphisms with type 2 diabetes mellitus: susceptibility and complications","author":"Settin","year":"2014","journal-title":"J\u00a0Renin Angiotensin Aldosterone Syst"},{"key":"10.1016\/j.ejmg.2014.10.004_bib127","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1093\/oxfordjournals.aje.a009555","article-title":"Maternal vitamin use, genetic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida","volume":"148","author":"Shaw","year":"1998","journal-title":"Am J Epidemiol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib128","first-page":"355","article-title":"Methylenetetrahydrofolate reductase polymorphisms\/haplotypes and risk of gastric cancer: a case-control analysis in China","volume":"13","author":"Shen","year":"2005","journal-title":"Oncol Rep"},{"key":"10.1016\/j.ejmg.2014.10.004_bib129","first-page":"332","article-title":"Polymorphisms of 5,10-methylenetetrahydrofolate reductase and risk of gastric cancer in a Chinese population: a case-control study","volume":"95","author":"Shen","year":"2001","journal-title":"Int J Cancer"},{"key":"10.1016\/j.ejmg.2014.10.004_bib188","doi-asserted-by":"crossref","first-page":"9669","DOI":"10.1007\/s11033-012-1832-4","article-title":"MTHFR C677T polymorphism contributes to colorectal cancer susceptibility: evidence from 61 case-control studies","volume":"39","author":"Sheng","year":"2012","journal-title":"Mol Biol Rep"},{"key":"10.1016\/j.ejmg.2014.10.004_bib130","doi-asserted-by":"crossref","first-page":"396","DOI":"10.3892\/br.2014.258","article-title":"Lack of association between MTHFR Ala222Val and Glu429Ala polymorphisms and bladder cancer risk: a meta-analysis of case-control studies","volume":"2","author":"Shi","year":"2014","journal-title":"Biomed Rep"},{"key":"10.1016\/j.ejmg.2014.10.004_bib131","first-page":"439","article-title":"Clinical use and rational management of homocysteine, folic acid, and B vitamins in cardiovascular and thrombotic diseases","volume":"93","author":"Stanger","year":"2004","journal-title":"Z\u00a0Kardiol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib132","first-page":"849","article-title":"Genomic DNA hypomethylation, a characteristic of most cancers, is present in peripheral leukocytes of individuals who are homozygous for the C677T polymorphism in the methylenetetrahydrofolate reductase gene","volume":"9","author":"Stern","year":"2000","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib133","first-page":"229","article-title":"Differences in methylenetetrahydrofolate reductase genotype frequencies between Whites and Blacks","volume":"60","author":"Stevenson","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib134","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1007\/s13277-013-1023-5","article-title":"Significant association between MTHFR C677T polymorphism and hepatocellular carcinoma risk: a meta-analysis","volume":"35","author":"Sun","year":"2014","journal-title":"Tumour Biol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib135","doi-asserted-by":"crossref","first-page":"15","DOI":"10.4137\/CMO.S12701","article-title":"Folate levels and polymorphisms in the genes MTHFR, MTR, and TS in colorectal cancer","volume":"8","author":"Taflin","year":"2014","journal-title":"Clin Med Insights Oncol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib136","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1097\/MBC.0b013e32833135e9","article-title":"Methylene tetrahydrofolate reductase gene polymorphism in Egyptian children with acute lymphoblastic leukemia","volume":"21","author":"Tantawy","year":"2010","journal-title":"Blood Coagul Fibrinolysis"},{"key":"10.1016\/j.ejmg.2014.10.004_bib137","doi-asserted-by":"crossref","first-page":"2590","DOI":"10.1182\/blood-2005-04-1719","article-title":"MTHFR genetic polymorphisms and susceptibility to childhood acute lymphoblastic leukemia","volume":"106","author":"Thirumaran","year":"2005","journal-title":"Blood"},{"key":"10.1016\/j.ejmg.2014.10.004_bib138","first-page":"2395","article-title":"Methylenetetrahydrofolate reductase (MTHFR) genotype, smoking habit, metastasis and oral cancer in Taiwan","volume":"31","author":"Tsai","year":"2011","journal-title":"Anticancer Res"},{"key":"10.1016\/j.ejmg.2014.10.004_bib139","doi-asserted-by":"crossref","first-page":"4627","DOI":"10.7314\/APJCP.2012.13.9.4627","article-title":"MTHFR gene polymorphisms are not involved in pancreatic cancer risk: a meta-analysis","volume":"13","author":"Tu","year":"2012","journal-title":"Asian Pac J Cancer Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib140","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1093\/ajcn\/57.1.47","article-title":"Vitamin B12, vitamin B6 and folate nutritional status in men with hyperhomocysteinaemia","volume":"57","author":"Ubbink","year":"1993","journal-title":"Am J Clin Nutr"},{"key":"10.1016\/j.ejmg.2014.10.004_bib141","first-page":"816","article-title":"Polymorphic variants of folate metabolizing genes (C677T and A1298C MTHFR, C1420T SHMT1 and G1958A MTHFD) are not associated with the risk of breast cancer in West Siberian Region of Russia","volume":"44","author":"Va\u012dner","year":"2010","journal-title":"Mol Biol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib142","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1007\/s00432-005-0065-5","article-title":"Methylenetetrahydrofolate reductase polymorphism and minor increase of risk for oral cancer","volume":"132","author":"Vairaktaris","year":"2006","journal-title":"J\u00a0Cancer Res Clin Oncol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib143","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1007\/s10238-009-0054-0","article-title":"MTHFR (methylenetetrahydrofolate reductase) C677T polymorphism and psoriasis","volume":"9","author":"Vasku","year":"2009","journal-title":"Clin Exp Med"},{"key":"10.1016\/j.ejmg.2014.10.004_bib144","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.1136\/bmj.325.7374.1202","article-title":"Homocysteine and cardiovascular disease: evidence on causality from a meta-analysis","volume":"325","author":"Wald","year":"2002","journal-title":"BMJ"},{"key":"10.1016\/j.ejmg.2014.10.004_bib145","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1089\/gtmb.2012.0184","article-title":"Methylenetetrahydrofolate reductase polymorphism C677T is a protective factor for pediatric acute lymphoblastic leukemia in the Chinese population: a meta-analysis","volume":"16","author":"Wang","year":"2012","journal-title":"Genet Test Mol Biomarkers"},{"key":"10.1016\/j.ejmg.2014.10.004_bib146","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.arcmed.2013.01.011","article-title":"Methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism and risk of preeclampsia: an updated meta-analysis based on 51 studies","volume":"44","author":"Wang","year":"2013","journal-title":"Arch Med Res"},{"issue":"13","key":"10.1016\/j.ejmg.2014.10.004_bib147","doi-asserted-by":"crossref","first-page":"5446","DOI":"10.4238\/2014.July.24.24","article-title":"Association of dietary intake of folate and MTHFR genotype with breast cancer risk","volume":"24","author":"Wang","year":"2014","journal-title":"Genet Mol Res"},{"key":"10.1016\/j.ejmg.2014.10.004_bib148","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1111\/j.1600-0625.2008.00713.x","article-title":"The methylenetetrahydrofolate reductase 677C>T gene polymorphism is not associated with chronic plaque psoriasis","volume":"17","author":"Weger","year":"2008","journal-title":"Exp Dermatol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib149","doi-asserted-by":"crossref","first-page":"1997","DOI":"10.1007\/s11033-011-0946-4","article-title":"MTHFR 677C>T and 1298A>C polymorphisms and male infertility risk: a meta-analysis","volume":"39","author":"Wei","year":"2012","journal-title":"Mol Biol Rep"},{"key":"10.1016\/j.ejmg.2014.10.004_bib150","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1111\/j.1749-6632.1997.tb51988.x","article-title":"Hyperhomocysteinaemia and atherothrombosis","volume":"811","author":"Welsch","year":"1997","journal-title":"Ann NY Acad Sci"},{"key":"10.1016\/j.ejmg.2014.10.004_bib151","doi-asserted-by":"crossref","first-page":"21","DOI":"10.7314\/APJCP.2013.14.1.21","article-title":"Methylenetetrahydrofolate reductase genetic polymorphisms and esophageal squamous cell carcinoma susceptibility: a meta-analysis of case-control studies","volume":"14","author":"Wen","year":"2013","journal-title":"Asian Pac J Cancer Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib152","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1161\/01.ATV.16.7.878","article-title":"Distribution in healthy and coronary populations of the methylenetetrahydrofolate reductase (MTHFR) C677T mutation","volume":"16","author":"Wilcken","year":"1996","journal-title":"Arterioscler Thromb Vase Biol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib153","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1007\/s00404-013-2721-3","article-title":"MTHFR C677T polymorphism was an ethnicity-dependent risk factor for cervical cancer development: evidence based on a meta-analysis","volume":"288","author":"Wu","year":"2013","journal-title":"Arch Gynecol Obstet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib154","first-page":"3573","article-title":"Significant association of methylenetetrahydrofolate reductase single nucleotide polymorphisms with prostate cancer susceptibility in taiwan","volume":"30","author":"Wu","year":"2010","journal-title":"Anticancer Res"},{"key":"10.1016\/j.ejmg.2014.10.004_bib155","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1111\/j.1365-2605.2011.01147.x","article-title":"Methylenetetrahydrofolate reductase C677T polymorphism and the risk of male infertility: a meta-analysis","volume":"35","author":"Wu","year":"2012","journal-title":"Int J Androl"},{"key":"10.1016\/j.ejmg.2014.10.004_bib156","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1186\/1746-1596-8-95","article-title":"Quantitative assessment of the association between MHTFR C677T (rs1801133, Ala222Val) polymorphism and susceptibility to bladder cancer","volume":"8","author":"Wu","year":"2013","journal-title":"Diagn Pathol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib157","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/j.ejogrb.2012.11.022","article-title":"Folate metabolism gene polymorphisms MTHFR C677T and A1298C and risk for Down syndrome offspring: a meta-analysis","volume":"167","author":"Wu","year":"2013","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib158","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.jns.2013.09.006","article-title":"Methylenetetrahydrofolate reductase (MTHFR) C677T\/A1298C polymorphisms and susceptibility to Parkinson's disease: a meta-analysis","volume":"335","author":"Wu","year":"2013","journal-title":"J\u00a0Neurol Sci"},{"key":"10.1016\/j.ejmg.2014.10.004_bib159","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.1007\/s13277-013-0670-x","article-title":"Methylenetetrahydrofolate reductase gene polymorphisms association with the risk of follicular lymphoma: a meta-analysis","volume":"34","author":"Xu","year":"2013","journal-title":"Tumour Biol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib160","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1007\/s11033-012-2056-3","article-title":"Cervical cancer with polymorphism in MTHFR C677T gene: a systematic review and meta-analysis","volume":"40","author":"Xu","year":"2013","journal-title":"Mol Biol Rep"},{"key":"10.1016\/j.ejmg.2014.10.004_bib161","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/j.arcmed.2011.11.009","article-title":"Association between polymorphism of methylenetetrahydrofolate reductase (MTHFR) C677T and risk of myocardial infarction: a meta-analysis for 8,140 cases and 10,522 controls","volume":"42","author":"Xuan","year":"2011","journal-title":"Arch Med Res"},{"key":"10.1016\/j.ejmg.2014.10.004_bib162","doi-asserted-by":"crossref","first-page":"699","DOI":"10.3892\/br.2014.302","article-title":"Methylenetetrahydrofolate reductase C677T gene polymorphism and essential hypertension: a meta-analysis of 10,415 subjects","volume":"2","author":"Yang","year":"2014","journal-title":"Biomed Rep"},{"key":"10.1016\/j.ejmg.2014.10.004_bib163","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1016\/j.metabol.2012.10.004","article-title":"MTHFR 677T variant contributes to diabetic nephropathy risk in Caucasian individuals with type 2 diabetes: a meta-analysis","volume":"62","author":"Yang","year":"2013","journal-title":"Metabolism"},{"key":"10.1016\/j.ejmg.2014.10.004_bib164","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.7314\/APJCP.2012.13.4.1203","article-title":"MTHFR C677T polymorphism and colorectal cancer risk in Asians, a meta-analysis of 21 studies","volume":"13","author":"Yang","year":"2012","journal-title":"Asian Pac J Cancer Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib165","doi-asserted-by":"crossref","first-page":"6333","DOI":"10.7314\/APJCP.2014.15.15.6333","article-title":"Lack of association betweenthe MTHFRC677T polymorphism and lung cancer in a Turkish population","volume":"15","author":"Yilmaz","year":"2014","journal-title":"Asian Pac J Cancer Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib166","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.schres.2010.07.011","article-title":"Gene-wide association study between the methylenetetrahydrofolate reductase gene (MTHFR) and schizophrenia in the Japanese population, with an updated meta-analysis on currently available data","volume":"124","author":"Yoshimi","year":"2010","journal-title":"Schizophr Res"},{"key":"10.1016\/j.ejmg.2014.10.004_bib167","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1089\/dna.2012.1931","article-title":"MTHFR C677T and A1298C polymorphisms were associated with bladder cancer risk and disease progression: a meta-analysis","volume":"32","author":"You","year":"2013","journal-title":"DNA Cell Biol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib168","doi-asserted-by":"crossref","first-page":"e16763","DOI":"10.5812\/ircmj.16763","article-title":"Methylenetetrahydrofolate reductase C677T and A1298C polymorphism in Iranian women with idiopathic recurrent pregnancy losses","volume":"16","author":"Yousefian","year":"2014","journal-title":"Iran Red Crescent Med J"},{"key":"10.1016\/j.ejmg.2014.10.004_bib169","first-page":"2060","article-title":"Relationship between methylenetetrahydrofolate reductase gene C677T polymorphism and susceptibility of ischemic stroke: a meta-analysis","volume":"91","author":"Yu","year":"2011","journal-title":"Zhonghua Yi Xue Za Zhi"},{"key":"10.1016\/j.ejmg.2014.10.004_bib170","doi-asserted-by":"crossref","first-page":"e55835","DOI":"10.1371\/journal.pone.0055835","article-title":"Association between methylenetetrahydrofolate reductase C677T polymorphism and susceptibility to cervical cancer: a meta-analysis","volume":"8","author":"Yu","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.ejmg.2014.10.004_bib171","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.leukres.2005.08.008","article-title":"The role of methylenetetrahydrofolate reductase in acute lymphoblastic leukemia in a Brazilian mixed population","volume":"30","author":"Zanrosso","year":"2006","journal-title":"Leuk Res"},{"key":"10.1016\/j.ejmg.2014.10.004_bib172","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1507\/endocrj.EJ14-0071","article-title":"The effect of MTHFR C677T polymorphism on type 2 diabetes mellitus with vascular complications in Chinese Han population: a meta-analysis","volume":"61","author":"Zhang","year":"2014","journal-title":"Endocr J"},{"key":"10.1016\/j.ejmg.2014.10.004_bib173","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1158\/1055-9965.EPI-06-0513","article-title":"Genetic polymorphisms in folate metabolism and the risk of stomach cancer","volume":"6","author":"Zhang","year":"2007","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib174","doi-asserted-by":"crossref","first-page":"2597","DOI":"10.7314\/APJCP.2012.13.6.2597","article-title":"The MTHFR C677T polymorphism and prostate cancer risk: new findings from a meta-analysis of 7306 cases and 8062 controls","volume":"13","author":"Zhang","year":"2012","journal-title":"Asian Pac J Cancer Prev"},{"key":"10.1016\/j.ejmg.2014.10.004_bib175","doi-asserted-by":"crossref","first-page":"440","DOI":"10.3892\/br.2013.68","article-title":"Meta-analysis on MTHFR polymorphism and lung cancer susceptibility in East Asian populations","volume":"1","author":"Zhang","year":"2013","journal-title":"Biomed Rep"},{"key":"10.1016\/j.ejmg.2014.10.004_bib176","doi-asserted-by":"crossref","first-page":"6203","DOI":"10.1007\/s11033-011-1439-1","article-title":"Quantitative assessment of the effect of MTHFR polymorphisms on the risk of lung carcinoma","volume":"39","author":"Zhang","year":"2012","journal-title":"Mol Biol Rep"},{"key":"10.1016\/j.ejmg.2014.10.004_bib177","doi-asserted-by":"crossref","first-page":"781","DOI":"10.3892\/br.2013.134","article-title":"Association of methylenetetrahydrofolate reductase C677T and A1298C polymorphisms with colorectal cancer risk: a meta-analysis","volume":"1","author":"Zhao","year":"2013","journal-title":"Biomed Rep"},{"key":"10.1016\/j.ejmg.2014.10.004_bib178","doi-asserted-by":"crossref","first-page":"e74521","DOI":"10.1371\/journal.pone.0074521","article-title":"Methylenetetrahydrofolate reductase gene polymorphism and risk of type 2 diabetes mellitus","volume":"8","author":"Zhong","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.ejmg.2014.10.004_bib179","doi-asserted-by":"crossref","first-page":"2041","DOI":"10.1007\/s13277-012-0463-7","article-title":"Quantitative assessment of the association between MTHFR C677T polymorphism and colorectal cancer risk in East Asians","volume":"33","author":"Zhong","year":"2012","journal-title":"Tumour Biol"},{"key":"10.1016\/j.ejmg.2014.10.004_bib180","doi-asserted-by":"crossref","first-page":"e102443","DOI":"10.1371\/journal.pone.0102443","article-title":"Methylenetetrahydrofolate reductase C677T polymorphism and type 2 diabetes mellitus in Chinese population: a meta-analysis of 29 case-control studies","volume":"9","author":"Zhu","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.ejmg.2014.10.004_bib181","doi-asserted-by":"crossref","first-page":"919","DOI":"10.3892\/mmr.2013.1589","article-title":"Association between MTHFR C677T, MTHFR A1298C and MS A2756G polymorphisms and risk of cervical intraepithelial neoplasia II\/III and cervical cancer: a meta-analysis","volume":"8","author":"Zhu","year":"2013","journal-title":"Mol Med Rep"},{"key":"10.1016\/j.ejmg.2014.10.004_bib182","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.3349\/ymj.2013.54.6.1384","article-title":"Influence of methylenetetrahydrofolate reductase C677T polymorphism on the risk of lung cancer and the clinical response to platinum-based chemotherapy for advanced non-small cell lung cancer: an updated meta-analysis","volume":"54","author":"Zhu","year":"2013","journal-title":"Yonsei Med J"},{"key":"10.1016\/j.ejmg.2014.10.004_bib183","doi-asserted-by":"crossref","first-page":"447","DOI":"10.3109\/07357907.2012.681820","article-title":"Polymorphisms of MTHFR C677T and A1298C association with oral carcinoma risk: a meta-analysis","volume":"30","author":"Zhuo","year":"2012","journal-title":"Cancer Invest"},{"key":"10.1016\/j.ejmg.2014.10.004_bib184","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1007\/s10038-007-0189-3","article-title":"Methylenetetrahydrofolate reductase gene polymorphism as a risk factor for diabetic nephropathy: a meta-analysis","volume":"52","author":"Zintzaras","year":"2007","journal-title":"J\u00a0Hum Genet"},{"key":"10.1016\/j.ejmg.2014.10.004_bib185","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1007\/s10654-006-9027-8","article-title":"A\u00a0meta-analysis of genotypes and haplotypes of methylenetetrahydrofolate reductase gene polymorphisms in acute lymphoblastic leukemia","volume":"21","author":"Zintzaras","year":"2006","journal-title":"Eur J Epidemiol"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721214001931?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721214001931?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:41:56Z","timestamp":1761709316000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721214001931"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1]]},"references-count":188,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["S1769721214001931"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2014.10.004","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: Epidemiology, metabolism and the associated diseases","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2014.10.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}