title: Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial defects and congenital heart defects in China.
abstract: OBJECTIVE
  This study was designed to investigate whether the risks of congenital heart defects (CHD) and orofacial defects were influenced by a polymorphism of the offspring's RFC1 or by an interaction between the RFC1 gene and maternal periconceptional use of folic acid.
  
  
  METHODS
  A case-control study was conducted. A total of 82 families with a child affected by cleft lip with or without cleft palate (CLP), 67 families with a child-affected by CHD, and 100 nonmalformed control families were genotyped using PCR-RFLP. RFC1 G allele was tested through family-based association test.
  
  
  RESULTS
  Among mothers who did not use folic acid, the risks of 4.03 (95% CI = 1.33-12.77) for the G80/G80 genotype and 4.14 (95% CI = 1.06-16.82) for the G80/A80 genotype were observed relative to the A80/A80 genotype for CHD offspring. In family-based association tests (FBAT), offspring carrying the G allele for RFC1 is at increased risk for CHD (Z = 2.140, p < .05). No significant association was found between either RFC1 genotype or maternal folic acid supplementation and the risks of CLP.
  
  
  CONCLUSIONS
  Our findings suggest that the RFC1 G allele is likely to be an important candidate gene in folate transport and to be associated with risk for CHD. This study found modest evidence for a gene-nutrient interaction between offspring RFC1 genotype and periconceptional intake of folic acid on the risk of congenital heart defects.
authors: Institute of Reproductive and Child Health, Peking University, China. peilj@ncmih.bjmu.edu.cn
authors: Lijun
authors: L
authors: Pei
authors: Huiping
authors: H
authors: Zhu
authors: Jianghui
authors: J
authors: Zhu
authors: Aiguo
authors: A
authors: Ren
authors: Richard H
authors: RH
authors: Finnell
authors: Zhu
authors: Z
authors: Li
mesh_terms: D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005492:Folic Acid / Q000008:administration & dosage; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D058978:Reduced Folate Carrier Protein; D012306:Risk; D014803:Vitamin B Complex / Q000008:administration & dosage
chemical_list: D026901:Membrane Transport Proteins; D058978:Reduced Folate Carrier Protein; C548699:SLC19A1 protein, human; D014803:Vitamin B Complex; D005492:Folic Acid