Study On The Relations Between Genetic Polymorphisms Of Folic Metabolic Enzymes And The Risk Of Congenital Heart Defect

Objectives To explore the relationship between genetic polymorphisms in 5, 10- methyleneterahydrofolate reductase, methionine synthase, methionine synthase reductase and the risk of congenital heart disease.Methods 30 patients having CHD and their biological mothers were included in this study as case group in Hunan province , and 64 healthy subjects and their biological mothers were simultaneously selected from the same geographic area as control. To all subjects , the gene polymorphisms of MTHFR C677T,MS A2756G and MTRR A66G loci was examined with PCR-RFLP.Results It was obvious difference between experiment and control group in MTRR gene A66G mutation allele(G) frequency (P < 0.05) ,AA and AG had obvious difference (P < 0.05).The heterozygosity of MTRR was more prevalent in control than in case (34.38% vs. 10.00% in children , 37.50 % vs. 6.67 % in mother, respectively) , and yielded an odds ratio (OR) of 0.215(95%CI= 0.058-0.791) in children , 0.116(95 %CI= 0.025-0.532) in mothers. There is no existed significant difference at the other two loci.The percents of mothers with MTRR and MTHFR gene polymorphyisms,of mothers with MTRR and MS being polymorphyisms in control were significantly higher than those in case.Conclusions MTRR gene mutation allele is related to CHD, AG gene mutation type decreased the risk of CHD, AG mutation in mother could decrease risk of CHD in offspring.