Journal Article

Genetic Variation of Infant Reduced Folate Carrier (A80G) and Risk of Orofacial and Conotruncal Heart Defects

Gary M. Shaw, Huiping Zhu, Edward J. Lammer, Wei Yang and Richard H. Finnell

in American Journal of Epidemiology

Published on behalf of Johns Hopkins Bloomberg School of Public Health

Volume 158, issue 8, pages 747-752
Published in print October 2003 | ISSN: 0002-9262
Published online October 2003 | e-ISSN: 1476-6256 | DOI:
Genetic Variation of Infant Reduced Folate Carrier (A80G) and Risk of Orofacial and Conotruncal Heart Defects

More Like This

Show all results sharing this subject:

  • Public Health and Epidemiology


Show Summary Details


How folate reduces the risks of congenital anomalies is unknown. The authors focused on a gene involved in folate transport—reduced folate carrier-1 gene (RFC1). Using data from a California case-control study (1987–1989 births), the authors investigated whether the risks of orofacial clefts or conotruncal heart defects were influenced by a polymorphism of infant RFC1 or by an interaction between the RFC1 gene and maternal periconceptional use of vitamins containing folic acid. A total of 305 liveborn infants with cleft lip with or without cleft palate, 123 with cleft palate, 163 with conotruncal heart defects, and 364 nonmalformed controls were genotyped. Odds ratios of 1.6 (95% confidence interval: 0.9, 2.8) for the G80/G80 genotype and of 2.3 (95% confidence interval: 1.3, 3.9) for the G80/A80 genotype were observed relative to the A80/A80 genotype for conotruncal defects. Among mothers who did not use vitamins, the risk of conotruncal defects was 2.1 (95% confidence interval: 0.7, 5.9) for infants with genotype G80/G80 compared with those with the A80/A80 genotype. Among mothers who did use vitamins, the risk was 1.3 (95% confidence interval: 0.7, 2.7). Substantially elevated risks for either cleft group were not observed irrespective of genotype and use/nonuse of vitamins. Thus, this study found modest evidence for a gene-nutrient interaction between infant RFC1 genotype and periconceptional intake of vitamins on the risk of conotruncal defects.

Keywords: abnormalities; case-control studies; cleft lip; cleft palate; folic acid; heart defects, congenital; Abbreviations: CLP, cleft lip with or without cleft palate; CP, cleft palate.

Journal Article.  4115 words. 

Subjects: Public Health and Epidemiology

Full text: subscription required

How to subscribe Recommend to my Librarian

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.