MTHFR、PITX＿2基因多态性与先天性心脏病的关系探讨

Relationship between MTHFR,PITX＿2 gene polymorphism and congenital heart disease

目的探讨5,10-亚甲基四氢叶酸还原酶(MTHFR)、垂体同型框转录因子2(PITX2)基因多态性与先天性心脏病(CHD)的关系。方法选取2016年5月至2018年6月医院收治的140例CHD患儿,设为病例组,选择140例同期医院产检中心健康围产儿设为健康组。分析并鉴定外周血MTHFR基因C677T位点、PITX2基因304C>G位点基因型分布和等位基因频率,并采用Logistic回归分析法分析C677T、304C>G位点多态性与CHD的关系。结果病例组MTHFR基因C677T位点TT基因型构成比高于健康组TT基因型构成比,差异有统计学意义(P<0.05),且T等位基因频率高于健康组,差异有统计学意义(P<0.05);病例组PITX2基因304C>G位点CC基因型构成比低于健康组CC基因型构成比,差异有统计学意义(P<0.05),CG、GG基因型构成比高于健康组,差异有统计学意义(P<0.05),且G等位基因频率高于健康组,差异有统计学意义(P<0.05);经Logistic回归分析,C677T位点CT、TT基因型及T等位基因可能与CHD发病相关(OR=2.197、3.258、4.509,P=0.006、0.001、0.000),304C>G位点CG、GG基因型及G等位基因可能与CHD发病相关(OR=2.546、2.987、3.687,P=0.000、0.000、0.000)。结论 CHD可能与MTHFR基因C677T位点、PITX2基因304C>G位点基因多态性有关。

Objective:To investigate the relationship between 5,10-methylenetetrahydrofolate reductase(MTHFR),pituitary isoform transcription factor 2(PITX2)gene polymorphism congenital heart disease(CHD). Method:140 children with CHD admitted to the hospital from May 2016 to June 2018 were selected as the case group. 140 healthy perinatal infants from the same hospital in the same period were selected as the healthy group. Peripheral blood MTHFR gene C677 T locus,PITX2 gene 304 C>G locus genotype distribution and alleles frequencies were analyzed and identified,and the relationship between C677 T,304 C>G site polymorphism and CHD was analyzed by logistic regression analysis. Result:The TT genotype ratio of the MTHFR gene C677 T locus in the case group was higher than that in the healthy group TT genotype(P<0.05),and the T allele frequency was higher than that of the healthy group(P<0.05). The CC genotype ratio of the PITX2 gene in 304 C>G locus of the case group was lower than that of the healthy group(P<0.05),while the CG and GG genotypes ratio were higher than those of the healthy group(P<0.05),and the frequency of G allele was higher than that of healthy group(P<0.05). Logistic regression analysis showed that CT,TT genotype and T allele in C677 T locus may be associated with CHD(OR=2.197,3.258,4.509,P=0.006,0.001,0.000),and the CG,GG genotype and G allele of the 304 C>G locus may be associated with CHD(OR=2.546,2.987,3.687,P=0.000,0.000,0.000). Conclusion:CHD may be related to MTHFR gene C677 T locus and PITX2 gene 304 C>G locus gene polymorphism.