{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T02:51:55Z","timestamp":1771210315458,"version":"3.50.1"},"reference-count":52,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2018,8,18]],"date-time":"2018-08-18T00:00:00Z","timestamp":1534550400000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2018,8,15]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Worldwide, Neural tube defects (NTDs) are considered as major clinical problems imposing a huge socio\u2010economic burden for both affected individuals and their families. In India, the prevalence of Neural tube defects is significantly high. This study aims to evaluate the association between genetic defects in folate metabolism pathway genes, mainly: Folate hydrolase 1 (FOLH1), Dihydrofolate reductase (DHFR) and Methylenetetrahydrofolate reductase (MTHFR) and neural tube defects from eastern India.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We enrolled 62 consecutive mothers with NTDs foetuses as cases and their corresponding age matched 73 mothers with healthy babies as controls (genetic power has been calculated). Four single nucleotide polymorphisms (FOLH1: rs202676, DHFR: rs70991108, MTHFR: rs1801133 and rs1801131) have been amplified by polymerase chain reaction (PCR) and sequenced. Statistical analysis has been undertaken to find out association with NTDs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Genotype and allele frequency analysis of these SNPs revealed that, rs1801133 (p.Ala222Val) was significantly associated with NTDs risk (<jats:italic>p<\/jats:italic> value\u2009=\u20090.028; odds ratio\u20102.31; 95% CI 1.08\u20134.93), whereas rs202676 (p.Tyr60His) showed protective role (<jats:italic>p<\/jats:italic> value\u2009=\u20090.0066; odds ratio\u20100.11; 95% CI 0.01\u20130.86). Serum homocysteine (Hcy) concentration was respectively higher in subjects carrying 222Ala\/Val and 222Val\/Val alleles (<jats:italic>p<\/jats:italic> value\u2009=\u20090.009; <jats:italic>p<\/jats:italic> value\u2009\u2264\u20090.0001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In conclusion, it can be stated that, rs1801133 was associated with neural tube defects risk in patients from the eastern part of India and it might be counted as a molecular marker for evaluating the susceptibility of NTDs.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.1365","type":"journal-article","created":{"date-parts":[[2018,8,18]],"date-time":"2018-08-18T10:03:25Z","timestamp":1534586605000},"page":"1129-1138","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Association of FOLH1, DHFR, and MTHFR gene polymorphisms with susceptibility of Neural Tube Defects: A case control study from Eastern India"],"prefix":"10.1002","volume":"110","author":[{"given":"Silpita","family":"Paul","sequence":"first","affiliation":[{"name":"Department of Zoology University of Calcutta, Kolkata  West Bengal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanta","family":"Sadhukhan","sequence":"additional","affiliation":[{"name":"Department of Zoology University of Calcutta, Kolkata  West Bengal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dinesh","family":"Munian","sequence":"additional","affiliation":[{"name":"Department of Neonatology Institute of Post Graduate Medical Education &amp; Research, Kolkata  West Bengal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Biswabandhu","family":"Bankura","sequence":"additional","affiliation":[{"name":"Department of Zoology University of Calcutta, Kolkata  West Bengal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1174-7834","authenticated-orcid":false,"given":"Madhusudan","family":"Das","sequence":"additional","affiliation":[{"name":"Department of Zoology University of Calcutta, Kolkata  West Bengal India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,8,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0118961"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1103623108"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.1413403"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn1986"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1110\/ps.04622104"},{"key":"e_1_2_7_7_1","first-page":"327","article-title":"Analysis of the MTHFR 1298 A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population","volume":"47","author":"Boduroglu K.","year":"2005","journal-title":"Turk J Pediatr"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20553"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30048"},{"key":"e_1_2_7_10_1","volume-title":"Global report on birth defects: the hidden toll of dying and disabled children","author":"Christianson A.L.","year":"2006"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.2643"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70110-8"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1028-4559(08)60002-9"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ntt.2004.12.007"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000096735"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32937"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014299"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20556"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1359"},{"key":"e_1_2_7_20_1","first-page":"223","article-title":"Folate\u2010related gene variants in Irish families affected by neural tube defects","volume":"4","author":"Green R.F.","year":"2013","journal-title":"Front Genet"},{"key":"e_1_2_7_21_1","doi-asserted-by":"crossref","unstructured":"Greene N.D. 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