父母MTHFR基因型与子代先天性心脏病的关系

Effect of 5,10-methylenetetrahydro-folate reductase genotypes in parents on the risk of congenital heart disease in offspring

目的 探讨父母双方 MTHFR基因型对子代发生先天性心脏病的影响。方法 采用病例对照研究方法 ,研究对象来自辽宁省十余个市县 ,收集其肘静脉血液 ,用 PCR- RFL P方法确定MTHFR基因型。结果 两组父、母亲单独比较其基因型构成、等位基因频率 ,其差异无显著性 ;父母各种基因型组合两两比较也无统计学意义。将父母的等位基因合在一起 ,则病例组的 T等位基因频率 (5 7.94 % )高于对照组 (5 1.0 3% ) ,P <0 .0 5 ,OR值 1.32 ;父母双方均是纯合突变会增加后代患 CHD的危险 ,χ2 =6 .2 6 ,P <0 .0 5 ,OR值为 4 .33(95 % CI :1.18～ 18.77) ;通过计算后代纯合突变的概率 ,发现后代纯合突变的概率越大 ,患 CHD的风险性越大。结论 父母双方 MTH-FR6 77TT基因型与后代 CHD的发生有关 ,后代 TT基因型是

Objective To explore the association between parental MTHFR genotypes and fetal phenotype of CHD. Methods It was designed as a case control study. Venous blood were collected from the subjects. Genotype (C677T) of each sample was determined by PCR RFLP. Results When the MTHFR C677T genotype or the allele (T) frequency of father and mother were compared separately, no statistical significance was found. However the total allele (T) frequency was significantly higher in cases (57.94%) than in controls (51.03%) while the parents were put together. The value of OR was 1.32 (95% CI, 1.02～1.71; P=0.028). There was no difference between each two combinations of the six possible father mother genotype combinations. The father TT mother TT combination had a relative risk of 4.33 for the other parents' genotype combinations noteworthily. Higher probabilities of the offspring being homozygotes (TT), higher the risk for CHD occurrence was discovered. Conclusions MTHFR 677TT genotypes of both mother and father might increase the occurrence of CHD in offspring. Children carrying MTHFR homozygotes (TT) had higher risk for CHD.