[A parental case control study on the association between reduced folate carrier gene polymorphism and neural tube defects].
OBJECTIVE
To study the association between reduced folate carrier gene (RFC1 A80G) polymorphism and the risk for child with neural tube defects (NTDs), and to provide epidemiological evidence for the existence of NTDs genetic marker.


METHODS
RFC1 (A80G) genotypes were detected using RFLP-PCR for blood DNA of 104 families with NTDs-affected children and 100 control families with no history of child-affected birth defects. Case-control study and transmission/disequilibrium test(TDT) for the RFC1 genotype of NTDs pedigree were carried out.


RESULTS
The G allele frequency of children with NTDs was higher than that of controls when compared to A allele( OR = 1. 64, 95% CI :1.08-2.49). The offspring of the GG genotype were associated with a 2.56-fold increased risk of NTDs when compared to the AA genotype (OR = 2.56, 95% CI: 1.04-6.36) in our study population. There was evidence of association between G allele and the risk of parent having a child with NTDs (OR = 1.56, 95% CI: 1.07-2.28) in the TDT analysis.


CONCLUSIONS
Our findings indicated that there was potential association between offspring RFC1 GG genotype and the risk of NTDs, and the G allele was a possible susceptible gene marker for an increased NTDs risk in the Chinese population.
Pei
Li-jun
LJ
Institute of Reproductive and Child Health, National Reference Laboratory on Reproductive Health Research Ministry of Health, Peking University, Beijing 100083, China.
Li
Zhi-wen
ZW
Ren
Ai-guo
AG
Zhang
Wei
W
Zhu
Hui-ping
HP
Zhu
Jiang-hui
JH
Zheng
Xiao-ying
XY
Du
Bao-zhi
BZ
Liu
Yu-hong
YH
Xiao
Yan-ping
YP
Wei
Zi-geng
ZG
Li
Zhu
Z
D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009436:Neural Tube Defects / Q000235:genetics*; D010290:Parents; D011110:Polymorphism, Genetic; D058978:Reduced Folate Carrier Protein
D026901:Membrane Transport Proteins; D058978:Reduced Folate Carrier Protein; C548699:SLC19A1 protein, human