{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T22:59:12Z","timestamp":1773269952453,"version":"3.50.1"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,1,14]],"date-time":"2002-01-14T00:00:00Z","timestamp":1010966400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Science to Achieve Results (STAR) Program, the U.S. Environmental Protection Agency","award":["82829201"],"award-info":[{"award-number":["82829201"]}]},{"name":"Cooperative Agreement Program Announcement 643, Centers of Excellence for Surveillance, Research, Service and Evaluation Aimed at Birth Defects, Centers for Disease Control and Prevention","award":["U50\/CCU913241"],"award-info":[{"award-number":["U50\/CCU913241"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Women who consume folic acid in early pregnancy reduced their risks for delivering offspring with neural tube defects (NTDs). The underlying process by which folic acid facilitated this risk reduction is unknown. Investigating genetic variation that influences cellular absorption, transport, and metabolism of folate will help fill this data gap. We focused our studies on a candidate gene that is involved in folate transport, the reduced folate carrier 1 (<jats:italic>RFC1<\/jats:italic>). Using data from a California population\u2013based case control interview study (1989\u20131991 birth cohorts), we investigated whether spina bifida risk was influenced by an interaction between a polymorphism of infant <jats:italic>RFC1<\/jats:italic> at nucleotide 80 (A80G) and maternal periconceptional use of vitamins containing folic acid. Allelic variants of <jats:italic>RFC1<\/jats:italic> were determined by genotyping 133 live\u2010born spina bifida case infants and 188 control infants. The percentages of case infants with the A80\/A80, G80\/G80, and G80\/A80 genotypes were 27.2%, 28.0%, and 44.7%, respectively. The percentages of control infants were similar: 26.1%, 29.3%, and 44.7%. Odds ratios of 1.0 (95% confidence interval 0.5\u20132.0) for the G80\/G80 genotype and 1.1 (0.6\u20132.0) for the G80\/A80 genotype were observed relative to the A80\/A80 genotype. Among mothers who did not use vitamins, spina bifida risk was 2.4 (0.8\u20136.9) for infants with genotype G80\/G80 compared to those with A80\/A80 genotype. Among mothers who did use vitamins, the risk was 0.5 (0.1\u20133.1) for infants with the G80\/G80 genotype. Although this study did not find an increased spina bifida risk for infants who were heterozygous or homozygous for <jats:italic>RFC1<\/jats:italic> A80G, it did reveal modest evidence for a gene\u2010nutrient interaction between infant homozygosity for the <jats:italic>RFC1<\/jats:italic> G80\/G80 genotype and maternal periconceptional intake of vitamins containing folic acid on the risk of spina bifida. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10195","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T04:51:41Z","timestamp":1030251101000},"page":"1-6","source":"Crossref","is-referenced-by-count":110,"title":["Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida"],"prefix":"10.1002","volume":"108","author":[{"given":"Gary M.","family":"Shaw","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward 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