{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T20:42:45Z","timestamp":1769200965803,"version":"3.49.0"},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2014,4,15]],"date-time":"2014-04-15T00:00:00Z","timestamp":1397520000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BioData Mining"],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1186\/1756-0381-7-6","type":"journal-article","created":{"date-parts":[[2014,4,15]],"date-time":"2014-04-15T01:04:46Z","timestamp":1397523886000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Investigating the relationship between mitochondrial genetic variation and cardiovascular-related traits to develop a framework for mitochondrial phenome-wide association studies"],"prefix":"10.1186","volume":"7","author":[{"given":"Sabrina L","family":"Mitchell","sequence":"first","affiliation":[]},{"given":"Jacob B","family":"Hall","sequence":"additional","affiliation":[]},{"given":"Robert J","family":"Goodloe","sequence":"additional","affiliation":[]},{"given":"Jonathan","family":"Boston","sequence":"additional","affiliation":[]},{"given":"Eric","family":"Farber-Eger","sequence":"additional","affiliation":[]},{"given":"Sarah A","family":"Pendergrass","sequence":"additional","affiliation":[]},{"given":"William S","family":"Bush","sequence":"additional","affiliation":[]},{"given":"Dana C","family":"Crawford","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2014,4,15]]},"reference":[{"key":"105_CR1","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/em.20575","volume":"51","author":"MB De Moura","year":"2010","unstructured":"De Moura MB, dos Santos LS, Van Houten B: Mitochondrial dysfunction in neurodegenerative diseases and cancer. Environ Mol Mutagen. 2010, 51: 391-405.","journal-title":"Environ Mol Mutagen"},{"key":"105_CR2","first-page":"6470","volume":"62","author":"JZ Chen","year":"2002","unstructured":"Chen JZ, Gokden N, Greene GF, Mukunyadzi P, Kadlubar FF: Extensive somatic mitochondrial mutations in primary prostate cancer using laser capture microdissection. Cancer Res. 2002, 62: 6470-6474.","journal-title":"Cancer Res"},{"key":"105_CR3","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1055\/s-2001-17407","volume":"109","author":"D Wang","year":"2001","unstructured":"Wang D, Taniyama M, Suzuki Y, Katagiri T, Ban Y: Association of the mitochondrial DNA 5178A\/C polymorphism with maternal inheritance and onset of type 2 diabetes in Japanese patients. Exp Clin Endocrinol Diabetes. 2001, 109: 361-364. 10.1055\/s-2001-17407.","journal-title":"Exp Clin Endocrinol Diabetes"},{"key":"105_CR4","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.diabres.2005.12.001","volume":"73","author":"D-L Tang","year":"2006","unstructured":"Tang D-L, Zhou X, Li X, Zhao L, Liu F: Variation of mitochondrial gene and the association with type 2 diabetes mellitus in a Chinese population. Diabetes Res Clin Pract. 2006, 73: 77-82. 10.1016\/j.diabres.2005.12.001.","journal-title":"Diabetes Res Clin Pract"},{"key":"105_CR5","doi-asserted-by":"publisher","first-page":"4647","DOI":"10.1038\/sj.onc.1209607","volume":"25","author":"M Brandon","year":"2006","unstructured":"Brandon M, Baldi P, Wallace DC: Mitochondrial mutations in cancer. Oncogene. 2006, 25: 4647-4662. 10.1038\/sj.onc.1209607.","journal-title":"Oncogene"},{"key":"105_CR6","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1016\/j.neulet.2004.04.051","volume":"365","author":"JM Van der Walt","year":"2004","unstructured":"Van der Walt JM, Dementieva YA, Martin ER, Scott WK, Nicodemus KK, Kroner CC, Welsh-Bohmer KA, Saunders AM, Roses AD, Small GW, Schmechel DE, Murali Doraiswamy P, Gilbert JR, Haines JL, Vance JM, Pericak-Vance MA: Analysis of European mitochondrial haplogroups with Alzheimer disease risk. Neurosci Lett. 2004, 365: 28-32. 10.1016\/j.neulet.2004.04.051.","journal-title":"Neurosci Lett"},{"key":"105_CR7","doi-asserted-by":"publisher","first-page":"804","DOI":"10.1086\/373937","volume":"72","author":"JM Van der Walt","year":"2003","unstructured":"Van der Walt JM, Nicodemus KK, Martin ER, Scott WK, Nance MA, Watts RL, Hubble JP, Haines JL, Koller WC, Lyons K, Pahwa R, Stern MB, Colcher A, Hiner BC, Jankovic J, Ondo WG, Allen FH, Goetz CG, Small GW, Mastaglia F, Stajich JM, McLaurin AC, Middleton LT, Scott BL, Schmechel DE, Pericak-Vance MA, Vance JM: Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet. 2003, 72: 804-811. 10.1086\/373937.","journal-title":"Am J Hum Genet"},{"key":"105_CR8","doi-asserted-by":"publisher","first-page":"1552","DOI":"10.1016\/S0002-9297(07)64252-9","volume":"60","author":"RA Hegele","year":"1997","unstructured":"Hegele RA, Zinman B, Hanley AJ, Harris S, Connelly PW: A common mtDNA polymorphism associated with variation in plasma triglyceride concentration. Am J Hum Genet. 1997, 60: 1552-1555. 10.1016\/S0002-9297(07)64252-9.","journal-title":"Am J Hum Genet"},{"key":"105_CR9","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1007\/s004390100602","volume":"109","author":"A Kokaze","year":"2001","unstructured":"Kokaze A, Ishikawa M, Matsunaga N, Yoshida M, Sekine Y, Teruya K, Takeda N, Sumiya Y, Uchida Y, Takashima Y: Association of the mitochondrial DNA 5178 A\/C polymorphism with serum lipid levels in the Japanese population. Hum Genet. 2001, 109: 521-525. 10.1007\/s004390100602.","journal-title":"Hum Genet"},{"key":"105_CR10","doi-asserted-by":"publisher","first-page":"e1003087","DOI":"10.1371\/journal.pgen.1003087","volume":"9","author":"SA Pendergrass","year":"2013","unstructured":"Pendergrass SA, Brown-Gentry K, Dudek S, Frase A, Torstenson ES, Goodloe R, Ambite JL, Avery CL, Buyske S, B\u016f\u017ekov\u00e1 P, Deelman E, Fesinmeyer MD, Haiman CA, Heiss G, Hindorff LA, Hsu C-N, Jackson RD, Kooperberg C, Le Marchand L, Lin Y, Matise TC, Monroe KR, Moreland L, Park SL, Reiner A, Wallace R, Wilkens LR, Crawford DC, Ritchie MD: Phenome-wide association study (PheWAS) for detection of pleiotropy within the population architecture using genomics and epidemiology (PAGE) network. PLoS Genet. 2013, 9: e1003087-10.1371\/journal.pgen.1003087.","journal-title":"PLoS Genet"},{"key":"105_CR11","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1002\/gepi.20589","volume":"35","author":"SA Pendergrass","year":"2011","unstructured":"Pendergrass SA, Brown-Gentry K, Dudek SM, Torstenson ES, Ambite JL, Avery CL, Buyske S, Cai C, Fesinmeyer MD, Haiman C, Heiss G, Hindorff LA, Hsu C-N, Jackson RD, Kooperberg C, Le Marchand L, Lin Y, Matise TC, Moreland L, Monroe K, Reiner AP, Wallace R, Wilkens LR, Crawford DC, Ritchie MD: The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery. Genet Epidemiol. 2011, 35: 410-422. 10.1002\/gepi.20589.","journal-title":"Genet Epidemiol"},{"key":"105_CR12","doi-asserted-by":"publisher","first-page":"1205","DOI":"10.1093\/bioinformatics\/btq126","volume":"26","author":"JC Denny","year":"2010","unstructured":"Denny JC, Ritchie MD, Basford MA, Pulley JM, Bastarache L, Brown-Gentry K, Wang D, Masys DR, Roden DM, Crawford DC: PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics. 2010, 26: 1205-1210. 10.1093\/bioinformatics\/btq126.","journal-title":"Bioinformatics"},{"key":"105_CR13","doi-asserted-by":"publisher","first-page":"1102","DOI":"10.1038\/nbt.2749","volume":"31","author":"JC Denny","year":"2013","unstructured":"Denny JC, Bastarache L, Ritchie MD, Carroll RJ, Zink R, Mosley JD, Field JR, Pulley JM, Ramirez AH, Bowton E, Basford MA, Carrell DS, Peissig PL, Kho AN, Pacheco JA, Rasmussen LV, Crosslin DR, Crane PK, Pathak J, Bielinski SJ, Pendergrass SA, Xu H, Hindorff LA, Li R, Manolio TA, Chute CG, Chisholm RL, Larson EB, Jarvik GP, Brilliant MH: Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol. 2013, 31: 1102-1110. 10.1038\/nbt.2749.","journal-title":"Nat Biotechnol"},{"key":"105_CR14","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1007\/s00439-013-1355-7","volume":"133","author":"K Shameer","year":"2014","unstructured":"Shameer K, Denny JC, Ding K, Jouni H, Crosslin DR, de Andrade M, Chute CG, Peissig P, Pacheco JA, Li R, Bastarache L, Kho AN, Ritchie MD, Masys DR, Chisholm RL, Larson EB, McCarty CA, Roden DM, Jarvik GP, Kullo IJ: A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. Hum Genet. 2014, 133: 95-109. 10.1007\/s00439-013-1355-7.","journal-title":"Hum Genet"},{"key":"105_CR15","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1038\/gene.2013.2","volume":"14","author":"SJ Hebbring","year":"2013","unstructured":"Hebbring SJ, Schrodi SJ, Ye Z, Zhou Z, Page D, Brilliant MH: A PheWAS approach in studying HLA-DRB1*1501. Genes Immun. 2013, 14: 187-191. 10.1038\/gene.2013.2.","journal-title":"Genes Immun"},{"key":"105_CR16","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1038\/nrg3461","volume":"14","author":"N Solovieff","year":"2013","unstructured":"Solovieff N, Cotsapas C, Lee PH, Purcell SM, Smoller JW: Pleiotropy in complex traits: challenges and strategies. Nat Rev Genet. 2013, 14: 483-495. 10.1038\/nrg3461.","journal-title":"Nat Rev Genet"},{"key":"105_CR17","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1016\/j.ajhg.2010.11.011","volume":"88","author":"J Yang","year":"2011","unstructured":"Yang J, Lee SH, Goddard ME, Visscher PM: GCTA: a tool for genome-wide complex trait analysis. Am J Hum Genet. 2011, 88: 76-82. 10.1016\/j.ajhg.2010.11.011.","journal-title":"Am J Hum Genet"},{"key":"105_CR18","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1038\/clpt.2008.89","volume":"84","author":"DM Roden","year":"2008","unstructured":"Roden DM, Pulley JM, Basford MA, Bernard GR, Clayton EW, Balser JR, Masys DR: Development of a large-scale de-identified DNA biobank to enable personalized medicine. Clin Pharmacol Ther. 2008, 84: 362-369. 10.1038\/clpt.2008.89.","journal-title":"Clin Pharmacol Ther"},{"key":"105_CR19","doi-asserted-by":"publisher","first-page":"e1002793","DOI":"10.1371\/journal.pgen.1002793","volume":"8","author":"BF Voight","year":"2012","unstructured":"Voight BF, Kang HM, Ding J, Palmer CD, Sidore C, Chines PS, Burtt NP, Fuchsberger C, Li Y, Erdmann J, Frayling TM, Heid IM, Jackson AU, Johnson T, Kilpel\u00e4inen TO, Lindgren CM, Morris AP, Prokopenko I, Randall JC, Saxena R, Soranzo N, Speliotes EK, Teslovich TM, Wheeler E, Maguire J, Parkin M, Potter S, Rayner NW, Robertson N, Stirrups K: The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet. 2012, 8: e1002793-10.1371\/journal.pgen.1002793.","journal-title":"PLoS Genet"},{"key":"105_CR20","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1086\/504926","volume":"79","author":"R Saxena","year":"2006","unstructured":"Saxena R, de Bakker PIW, Singer K, Mootha V, Burtt N, Hirschhorn JN, Gaudet D, Isomaa B, Daly MJ, Groop L, Ardlie KG, Altshuler D: Comprehensive association testing of common mitochondrial DNA variation in metabolic disease. Am J Hum Genet. 2006, 79: 54-61. 10.1086\/504926.","journal-title":"Am J Hum Genet"},{"key":"105_CR21","doi-asserted-by":"publisher","first-page":"e35651","DOI":"10.1371\/journal.pone.0035651","volume":"7","author":"S Buyske","year":"2012","unstructured":"Buyske S, Wu Y, Carty CL, Cheng I, Assimes TL, Dumitrescu L, Hindorff LA, Mitchell S, Ambite JL, Boerwinkle E, Buzkova P, Carlson CS, Cochran B, Duggan D, Eaton CB, Fesinmeyer MD, Franceschini N, Haessler J, Jenny N, Kang HM, Kooperberg C, Lin Y, Le Marchand L, Matise TC, Robinson JG, Rodriguez C, Schumacher FR, Voight BF, Young A, Manolio TA: Evaluation of the metabochip genotyping array in African Americans and implications for fine mapping of GWAS-identified loci: the PAGE study. PLoS One. 2012, 7: e35651-10.1371\/journal.pone.0035651.","journal-title":"PLoS One"},{"key":"105_CR22","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1136\/amiajnl-2011-000439","volume":"19","author":"AN Kho","year":"2012","unstructured":"Kho AN, Hayes MG, Rasmussen-Torvik L, Pacheco JA, Thompson WK, Armstrong LL, Denny JC, Peissig PL, Miller AW, Wei W-Q, Bielinski SJ, Chute CG, Leibson CL, Jarvik GP, Crosslin DR, Carlson CS, Newton KM, Wolf WA, Chisholm RL, Lowe WL: Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study. J Am Med Inform Assoc. 2012, 19: 212-218. 10.1136\/amiajnl-2011-000439.","journal-title":"J Am Med Inform Assoc"},{"key":"105_CR23","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1086\/519795","volume":"81","author":"S Purcell","year":"2007","unstructured":"Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D, Maller J, Sklar P, de Bakker PIW, Daly MJ, Sham PC: PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007, 81: 559-575. 10.1086\/519795.","journal-title":"Am J Hum Genet"},{"key":"105_CR24","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1186\/1756-0381-3-10","volume":"3","author":"SA Pendergrass","year":"2010","unstructured":"Pendergrass SA, Dudek SM, Crawford DC, Ritchie MD: Synthesis-view: visualization and interpretation of SNP association results for multi-cohort, multi-phenotype data and meta-analysis. BioData Min. 2010, 3: 10-10.1186\/1756-0381-3-10.","journal-title":"BioData Min"},{"key":"105_CR25","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1007\/s001250050866","volume":"41","author":"J Poulton","year":"1998","unstructured":"Poulton J, Brown MS, Cooper A, Marchington DR, Phillips DI: A common mitochondrial DNA variant is associated with insulin resistance in adult life. Diabetologia. 1998, 41: 54-58. 10.1007\/s001250050866.","journal-title":"Diabetologia"},{"key":"105_CR26","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1046\/j.1464-5491.2002.00747.x","volume":"19","author":"JH Kim","year":"2002","unstructured":"Kim JH, Park KS, Cho YM, Kang BS, Kim SK, Jeon HJ, Kim SY, Lee HK: The prevalence of the mitochondrial DNA 16189 variant in non-diabetic Korean adults and its association with higher fasting glucose and body mass index. Diabet Med. 2002, 19: 681-684. 10.1046\/j.1464-5491.2002.00747.x.","journal-title":"Diabet Med"},{"key":"105_CR27","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1007\/s00125-008-0933-z","volume":"51","author":"KS Park","year":"2008","unstructured":"Park KS, Chan JC, Chuang L-M, Suzuki S, Araki E, Nanjo K, Ji L, Ng M, Nishi M, Furuta H, Shirotani T, Ahn BY, Chung SS, Min H-K, Lee SW, Kim JH, Cho YM, Lee HK: A mitochondrial DNA variant at position 16189 is associated with type 2 diabetes mellitus in Asians. Diabetologia. 2008, 51: 602-608. 10.1007\/s00125-008-0933-z.","journal-title":"Diabetologia"},{"key":"105_CR28","doi-asserted-by":"publisher","first-page":"1581","DOI":"10.1093\/hmg\/11.13.1581","volume":"11","author":"J Poulton","year":"2002","unstructured":"Poulton J, Luan J, Macaulay V, Hennings S, Mitchell J, Wareham NJ: Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case\u2013control study. Hum Mol Genet. 2002, 11: 1581-1583. 10.1093\/hmg\/11.13.1581.","journal-title":"Hum Mol Genet"},{"key":"105_CR29","doi-asserted-by":"publisher","first-page":"E386","DOI":"10.1002\/humu.20921","volume":"30","author":"M Van Oven","year":"2009","unstructured":"Van Oven M, Kayser M: Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat. 2009, 30: E386-E394. 10.1002\/humu.20921.","journal-title":"Hum Mutat"},{"key":"105_CR30","doi-asserted-by":"publisher","first-page":"1703","DOI":"10.1086\/652419","volume":"201","author":"JA Canter","year":"2010","unstructured":"Canter JA, Robbins GK, Selph D, Clifford DB, Kallianpur AR, Shafer R, Levy S, Murdock DG, Ritchie MD, Haas DW, Hulgan T: African mitochondrial DNA subhaplogroups and peripheral neuropathy during antiretroviral therapy. J Infect Dis. 2010, 201: 1703-1707. 10.1086\/652419.","journal-title":"J Infect Dis"},{"key":"105_CR31","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1007\/s13365-012-0133-y","volume":"18","author":"ER Holzinger","year":"2012","unstructured":"Holzinger ER, Hulgan T, Ellis RJ, Samuels DC, Ritchie MD, Haas DW, Kallianpur AR, Bloss CS, Clifford DB, Collier AC, Gelman BB, Marra CM, McArthur JC, McCutchan JA, Morgello S, Simpson DM, Franklin DR, Rosario D, Selph D, Letendre S, Grant I: Mitochondrial DNA variation and HIV-associated sensory neuropathy in CHARTER. J Neurovirol. 2012, 18: 511-520. 10.1007\/s13365-012-0133-y.","journal-title":"J Neurovirol"},{"key":"105_CR32","doi-asserted-by":"publisher","first-page":"870","DOI":"10.1046\/j.1464-5491.2002.00801.x","volume":"19","author":"SO Oyibo","year":"2002","unstructured":"Oyibo SO, Prasad YDM, Jackson NJ, Jude EB, Boulton AJM: The relationship between blood glucose excursions and painful diabetic peripheral neuropathy: a pilot study. Diabet Med. 2002, 19: 870-873. 10.1046\/j.1464-5491.2002.00801.x.","journal-title":"Diabet Med"},{"key":"105_CR33","doi-asserted-by":"publisher","first-page":"1031","DOI":"10.1089\/aid.2012.0373","volume":"29","author":"PZ Sinxadi","year":"2013","unstructured":"Sinxadi PZ, Dave JA, Samuels DC, Heckmann JM, Maartens G, Levitt NS, Wester CW, Haas DW, Hulgan T: Mitochondrial genomics and antiretroviral therapy-associated metabolic complications in HIV-infected Black South Africans: a pilot study. AIDS Res Hum Retroviruses. 2013, 29: 1031-1039. 10.1089\/aid.2012.0373.","journal-title":"AIDS Res Hum Retroviruses"}],"container-title":["BioData Mining"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1756-0381-7-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1756-0381-7-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1756-0381-7-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1756-0381-7-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,25]],"date-time":"2024-05-25T22:17:38Z","timestamp":1716675458000},"score":1,"resource":{"primary":{"URL":"https:\/\/biodatamining.biomedcentral.com\/articles\/10.1186\/1756-0381-7-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,15]]},"references-count":33,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["105"],"URL":"https:\/\/doi.org\/10.1186\/1756-0381-7-6","relation":{},"ISSN":["1756-0381"],"issn-type":[{"value":"1756-0381","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,15]]},"assertion":[{"value":"8 October 2013","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 April 2014","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 April 2014","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"6"}}