The relationship between frizzled 6 gene polymorphisms and neural tube defects in children of northern Han Chinese population / 中华神经科杂志

ABSTRACT

Objective To study the association of single nucleotide polymorphisms (SNPs) of the frizzled 6(FZD6) gene with neural tube defects(NTDs) in a northern Han Chinese population.Methods Three nonsynonymous SNPs in the FZD6 gene (rs827528,rs3808553,rs12549394) were examined.The SNPs were genotyped by polymerase chain reaction (PCR) and sequencing in 135 NTD patients and matched normal controls.The allele,genotype and haplotype frequencies were calculated and analyzed to examine the association between FZD6 SNPs and NTDs.Results Both T allele and TT genotype frequencies of the rs3808553 polymorphism in the NTDs group were significantly higher than those in the controls,and children with T allele and TT genotype were associated with increased risk of NTDs (OR =1.575,95％ CI 1.112-2.230,P =0.010 and OR =2.811,95％ CI 1.325-5.967,P =0.023 respectively).There were no significant differences among different genotypes or alleles in both rs827528 and rs12549394.Haplotypes AG-C and A-T-C were found associated with NTDs in the case-control study (OR =0.560,95％ CI 0.378-0.830,P=0.004 and OR=1.670,95％CI 1.126-2.475,P =0.011 respectively).Conclusions The rs3808553 polymorphism of FZD6 is obviously associated with NTDs in children of northern Han Chinese population.The TT genotype may increase the risk for NTDs.The rs827528 and rs12549394 polymorphisms of FZD6 may have no association with NTDs.