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目的应用叉生分析法分析先天性心脏病(CHD)基因与环境因素的交互作用,为CHD的病因研究提供新的分析方法。方法采用以医院为基础的病例对照研究方法,对2012年7月—2013年10月在山东省4家医院胸外科住院的137例CHD患儿及同期住院的132例无CHD及其他畸形的其他疾病患儿母亲进行问卷调查,并采集患儿空腹外周静脉血进行DNA提取和基因检测;应用叉生分析方法分析CHD致病基因(MTHFRC677T位点突变)与环境因素(孕期患病情况)的交互作用。结果病例组和对照组患儿CC、CT、TT基因型分别占20.44%和36.36%、38.69%和40.91%、40.87%和22.73%,C、T等位基因分别占39.78%和57.58%、60.22%和42.42%,2组患儿全基因型、等位基因频率比较,差异均有统计意义(P<0.010);叉生分析显示,CHD致病MTHFR基因C677T位点突变与环境因素(孕期患病情况)基于相加模型的交互作用差异有统计学意义(U=2.060,P=0.020),各评价指标:SI=4.85,AP=70%,AP*=79%,RERI=5.64;基于相乘模型交互作用差异无统计学意义(P>0.05)。结论 MTHFR基因C677T位点突变与孕期患病对CHD具有相加交互作用。
Objective To analyze the interaction between congenital heart disease (CHD) gene and environmental factors by cross product analysis, and to provide a new analysis method for the etiology of CHD. Methods A hospital-based case-control study was conducted in 137 CHD children hospitalized in thoracic surgery in 4 hospitals in Shandong Province from July 2012 to October 2013 and 132 patients with CHD and other malformations who were hospitalized in the same period The mothers of children with disease were surveyed, and the fasting peripheral venous blood samples were collected for DNA extraction and genetic testing. The interaction between CHD pathogenicity gene (MTHFRC677T site mutation) and environmental factors effect. Results The genotypes of CC, CT and TT in cases and controls accounted for 20.44% and 36.36%, 38.69% and 40.91%, 40.87% and 22.73%, respectively. The C and T alleles accounted for 39.78% and 57.58%, 60.22% % And 42.42%, respectively. There were significant differences in genotype and allele frequency between the two groups (P <0.010). The results of cross-examination showed that the C677T mutation in CHD-associated MTHFR gene was associated with environmental factors (U = 2.060, P = 0.020). The evaluation indexes were: SI = 4.85, AP = 70%, AP * = 79% and RERI = 5.64. Based on the correlation analysis, There was no significant difference in model interaction (P> 0.05). Conclusion Mutation of C677T site of MTHFR gene and pre-pregnancy disease have an additive interaction with CHD.