{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T11:20:50Z","timestamp":1740136850214,"version":"3.37.3"},"reference-count":41,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,11,5]],"date-time":"2014-11-05T00:00:00Z","timestamp":1415145600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31371523; 81472987"],"award-info":[{"award-number":["31371523; 81472987"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Maternal pregestational hyperglycemia, diabetes, and obesity are well\u2010established risk factors for neural tube defects (NTDs). As a common underlying mechanism, the imbalance of glucose homeostasis is directly related to the development of NTDs. Polymorphisms in genes regulating glucose metabolism in women may impact their chance of having an NTD\u2010affected pregnancy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We conducted a two\u2010stage case\u2010control study to investigate the association between maternal genetic variants in genes regulating glucose metabolism and risk for NTDs. The cases were 547 women who gave birth to a child with an NTD (anencephaly, spina bifida, or encephalocele); the controls were 543 women who gave birth to a full\u2010term healthy infant. In the first stage, 12 single nucleotide polymorphisms were genotyped in 160 cases and 162 controls. In the second stage, five single nucleotide polymorphisms found in the first stage and potentially associated with NTD risk were genotyped for validation, in an additional 387 cases and 381 controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Combined analysis of data from the two stages showed an association between maternal AA genotype of <jats:italic>GCKR<\/jats:italic> rs780094 and increased risk for total NTDs [odds ratio, 1.73; 95% confidence interval, 1.16\u20132.59) and spina bifida subtype [odds ratio, 1.83; 95% confidence interval, 1.16\u20132.88). No association was found between the other four single nucleotide polymorphisms (<jats:italic>LEPR<\/jats:italic> rs1137100, <jats:italic>HK1<\/jats:italic> rs748235, <jats:italic>HHEX<\/jats:italic> rs5015480, <jats:italic>KCNQ1<\/jats:italic> rs2237892) and NTD risk.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The AA genotype in maternal <jats:italic>GCKR<\/jats:italic> rs780094 is associated with an increased risk for NTDs and spina bifida in the Chinese population. Birth Defects Research (Part A) 103:471\u2013478, 2015. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23332","type":"journal-article","created":{"date-parts":[[2014,11,5]],"date-time":"2014-11-05T07:26:00Z","timestamp":1415172360000},"page":"471-478","source":"Crossref","is-referenced-by-count":8,"title":["Association between maternal single nucleotide polymorphisms in genes regulating glucose metabolism and risk for neural tube defects in offspring"],"prefix":"10.1002","volume":"103","author":[{"given":"Yunting","family":"Fu","sequence":"first","affiliation":[{"name":"Institute of Reproductive and Child Health \/ Ministry of Health Key Laboratory of Reproductive Health School of Public Health, Peking University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin\u2010lin","family":"Wang","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Child Health \/ Ministry of Health Key Laboratory of Reproductive Health School of Public Health, Peking University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deqing","family":"Yi","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Child Health \/ Ministry of Health Key Laboratory of Reproductive Health School of Public Health, Peking University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Jin","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Child Health \/ Ministry of Health Key Laboratory of Reproductive Health School of Public Health, Peking University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jufen","family":"Liu","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Child Health \/ Ministry of Health Key Laboratory of Reproductive Health School of Public Health, Peking University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yali","family":"Zhang","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Child Health \/ Ministry of Health Key Laboratory of Reproductive Health School of Public Health, Peking University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aiguo","family":"Ren","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Child Health \/ Ministry of Health Key Laboratory of Reproductive Health School of Public Health, Peking University Beijing 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