{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T04:06:37Z","timestamp":1694664397156},"reference-count":13,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2008,6,13]],"date-time":"2008-06-13T00:00:00Z","timestamp":1213315200000},"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":[[2008,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>BACKGROUND:<\/jats:title><jats:p>Moderate hyperhomocysteinemia is a known risk factor for NTDs in a variety of experimental model systems and is believed to be important in humans as well. The enzyme nicotinamide <jats:italic>N<\/jats:italic>\u2010methyl transferase (NNMT) was identified in a genome\u2010wide linkage scan as being an important regulator of homocysteine homeostasis in a Spanish population, making it an interesting candidate gene for NTDs.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS:<\/jats:title><jats:p>We evaluated 11 SNPs (single nucleotide polymorphism) of the <jats:italic>NNMT<\/jats:italic> gene in our study population. In this study, 252 cases (infants with spina bifida) and 335 controls (nonmalformed infants), born during the period 1983\u20131986 in selected counties in California, were genotyped for variants of the <jats:italic>NNMT<\/jats:italic> gene. Allelic, genotype, and haplotype associations with spina bifida risk were evaluated and analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS:<\/jats:title><jats:p>None of the SNPs studied alone showed allelic or genotypic associations with spina bifida. However, the TCAG haplotype for block 3 (rs2852447, ra2852425, rs4646337, and rs11569688) showed a decreased risk for spina bifida among non\u2010Hispanic Whites (OR 0.4; 95%CI: 0.1\u20131.0).<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS:<\/jats:title><jats:p>No association was found between infant <jats:italic>NNMT<\/jats:italic> gene variants and risk for spina bifida in our study population. However, small sample sizes for most variant groups and for phase\u2010unknown haplotype data limited the power of the study. Birth Defects Research (Part A) 2008. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.20474","type":"journal-article","created":{"date-parts":[[2008,6,14]],"date-time":"2008-06-14T02:19:00Z","timestamp":1213409940000},"page":"670-675","source":"Crossref","is-referenced-by-count":5,"title":["Nicotinamide <i>N<\/i>\u2010methyl transferase (<i>NNMT<\/i>) gene polymorphisms and risk for spina bifida"],"prefix":"10.1002","volume":"82","author":[{"given":"Wei","family":"Lu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huiping","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu","family":"Wen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary M.","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward J.","family":"Lammer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard H.","family":"Finnell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,10,20]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bth457"},{"key":"e_1_2_5_3_1","first-page":"63","volume-title":"Homocysteine in health and disease","author":"Clarke S","year":"2001"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/344209"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0163-7258(96)00197-0"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)90165-5"},{"key":"e_1_2_5_7_1","first-page":"756S","article-title":"Homocysteine and neural tube defects","volume":"126","author":"Mills JL","year":"1996","journal-title":"J Nutr"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M212194200"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0029665101000088"},{"key":"e_1_2_5_10_1","first-page":"1","article-title":"Surveillance for and comparison of birth defect prevalences in two geographic areas\u2014United States, 1983\u201388","volume":"42","author":"Schulman J","year":"1993","journal-title":"MMWR CDC Surveill Summ"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/430409"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(94)90004-3"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31142"},{"key":"e_1_2_5_14_1","doi-asserted-by":"crossref","unstructured":"ZhuH WickerNJ ShawGM et al.2003.Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects.78:216\u2013221.","DOI":"10.1016\/S1096-7192(03)00008-8"}],"container-title":["Birth Defects Research Part A: Clinical and Molecular Teratology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdra.20474","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdra.20474","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T19:09:20Z","timestamp":1694632160000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdra.20474"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,10]]},"references-count":13,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2008,10]]}},"alternative-id":["10.1002\/bdra.20474"],"URL":"https:\/\/doi.org\/10.1002\/bdra.20474","archive":["Portico"],"relation":{},"ISSN":["1542-0752","1542-0760"],"issn-type":[{"value":"1542-0752","type":"print"},{"value":"1542-0760","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,10]]}}}