Am J Epidemiol 2003; 158:747-752.
Copyright © 2003 by Johns
Hopkins Bloomberg School of Public Health
ORIGINAL CONTRIBUTIONS |
Genetic Variation of Infant Reduced Folate Carrier (A80G) and Risk of Orofacial and Conotruncal Heart Defects
1 March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Oakland, CA.
2 Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston, TX.
3 Division of Medical Genetics, Children’s Hospital, Oakland, CA.
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.
abnormalities; case-control studies; cleft lip; cleft palate; folic acid; heart defects, congenital
Abbreviations: Abbreviations: CLP, cleft lip with or without cleft palate; CP, cleft palate.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  E. Goldmuntz, S. Woyciechowski, D. Renstrom, P. J. Lupo, and L. E. Mitchell Variants of Folate Metabolism Genes and the Risk of Conotruncal Cardiac Defects Circ Cardiovasc Genet, December 1, 2008; 1(2): 126 - 132. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Y Johnson and J. Little Folate intake, markers of folate status and oral clefts: is the evidence converging? Int. J. Epidemiol., October 1, 2008; 37(5): 1041 - 1058. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. Tamura and M. F. Picciano Folate and human reproduction Am. J. Clinical Nutrition, May 1, 2006; 83(5): 993 - 1016. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. M. Shaw, D. M. Iovannisci, W. Yang, R. H. Finnell, S. L. Carmichael, S. Cheng, and E. J. Lammer Endothelial Nitric Oxide Synthase (NOS3) Genetic Variants, Maternal Smoking, Vitamin Use, and Risk of Human Orofacial Clefts Am. J. Epidemiol., December 15, 2005; 162(12): 1207 - 1214. [Abstract] [Full Text] [PDF]
|
|