{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T06:07:39Z","timestamp":1789625259146,"version":"build-2803163510"},"reference-count":54,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2011,7,18]],"date-time":"2011-07-18T00:00:00Z","timestamp":1310947200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2011,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Neural tube defects (NTDs) are among the most common severe congenital malformations, representing a long\u2010term public health burden in India. A deranged one\u2010carbon metabolism and genes regulating this metabolism have been linked to NTDs. Vitamin B<jats:sub>12<\/jats:sub> deficiency is reported to be more prevalent than folate deficiency in the Indian population. We investigated the role of maternal nutritional and genetic markers related to one\u2010carbon metabolism in the etiology of NTDs.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>We conducted a multicenter case\u2010control study to compare plasma folate, vitamin B<jats:sub>12<\/jats:sub>, homocysteine and holo\u2010transcobalamin levels, and polymorphisms in methylenetetrahydrofolate reductase (<jats:italic>MTHFR<\/jats:italic>, 677C&gt;T, 1298A&gt;C, 1781G&gt;A and 236+724A&gt;G) and transcobalamin (<jats:italic>TCN2<\/jats:italic>, 776C&gt;G) genes, in 318 women with NTD\u2010affected offspring (cases) and 702 women with apparently healthy offspring (controls). The samples were collected at diagnosis in cases and at delivery in controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>We observed a significant association of high maternal plasma homocysteine concentrations with NTDs in the offspring (<jats:italic>p<\/jats:italic> = 0.026). There was no association of maternal folate or B<jats:sub>12<\/jats:sub> levels with NTDs (<jats:italic>p<\/jats:italic> &gt; 0.05) but low maternal holo\u2010transcobalamin predicted strong risk of NTDs in the offspring (<jats:italic>p<\/jats:italic> = 0.003). The commonly associated maternal polymorphism 677C&gt;T in the <jats:italic>MTHFR<\/jats:italic> gene did not predict risk of NTDs in the offspring (<jats:italic>p<\/jats:italic> &gt; 0.05) and 1298A&gt;C and 1781G&gt;A polymorphisms in <jats:italic>MTHFR<\/jats:italic> were protective (<jats:italic>p<\/jats:italic> = 0.024 and 0.0004 respectively). Maternal 776C&gt;G polymorphism in <jats:italic>TCN2<\/jats:italic> was strongly predictive of NTD in the offspring (<jats:italic>p<\/jats:italic> = 0.006).<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>Our study has demonstrated a possible role for maternal B<jats:sub>12<\/jats:sub> deficiency in the etiology of NTDs in India over and above the well\u2010established role of folate deficiency. Birth Defects Research (Part A), 2011. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.20841","type":"journal-article","created":{"date-parts":[[2011,7,18]],"date-time":"2011-07-18T19:35:06Z","timestamp":1311017706000},"page":"848-856","source":"Crossref","is-referenced-by-count":50,"title":["Maternal one\u2010carbon metabolism, <i>MTHFR<\/i> and <i>TCN2<\/i> genotypes and neural tube defects in India"],"prefix":"10.1002","volume":"91","author":[{"given":"Koumudi","family":"Godbole","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panjalingam","family":"Gayathri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smita","family":"Ghule","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Batchu 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