{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T12:28:10Z","timestamp":1759580890731},"reference-count":52,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T00:00:00Z","timestamp":1453248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:sec><jats:label \/><jats:p>Many folate\u2010related genes have been investigated for possible causal roles in neural tube defects (NTDs) and oral clefts. However, no previous reports have examined the major gene responsible for folate uptake, the proton\u2010coupled folate transporter (<jats:italic>SLC46A1<\/jats:italic>). We tested for association between these birth defects and single nucleotide polymorphisms in the <jats:italic>SLC46A1<\/jats:italic> gene. The NTD study population included 549 complete and incomplete case\u2010family triads, and 999 controls from Ireland. The oral clefts study population comprised a sample from Utah (495 complete and incomplete case\u2010family triads and 551 controls) and 221 Filipino multiplex cleft families. There was suggestive evidence of increased NTD case risk with the rs17719944 minor allele (odds ratio (OR): 1.29; 95% confidence intervals (CI): [1.00\u20131.67]), and decreased maternal risk of an NTD pregnancy with the rs4795436 minor allele (OR: 0.62; [0.39\u20130.99]). In the Utah sample, the rs739439 minor allele was associated with decreased case risk for cleft lip with cleft palate (genotype relative risk (GRR): 0.56 [0.32\u20130.98]). Additionally, the rs2239907 minor allele was associated with decreased case risk for cleft lip with cleft palate in several models, and with cleft palate only in a recessive model (OR: 0.41; [0.20\u20130.85]). These associations did not remain statistically significant after correcting for multiple hypothesis testing. Nominal associations between <jats:italic>SLC46A1<\/jats:italic> polymorphisms and both Irish NTDs and oral clefts in the Utah population suggest some role in the etiology of these birth defects, but further investigation in other populations is needed. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37539","type":"journal-article","created":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T23:19:00Z","timestamp":1453331940000},"page":"1007-1016","source":"Crossref","is-referenced-by-count":4,"title":["Evaluation of proton\u2010coupled folate transporter (<i>SLC46A1<\/i>) polymorphisms as risk factors for neural tube defects and oral clefts"],"prefix":"10.1002","volume":"170","author":[{"given":"Julia E.","family":"VanderMeer","sequence":"first","affiliation":[{"name":"Section of Molecular Pathogenesis Medical Genomics Metabolic Genetics Branch National Human Genome Research Institute Bethesda 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