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目的探讨子代CYP450基因多态性及母亲孕期环境危险因素暴露与先天性心脏病(CHD)发病的关系以及二者在CHD发生中是否存在交互作用。方法采用病例对照研究方法,将2011年10月-2013年1月在山东省济宁医学院第一附属医院确诊的160例0~7周岁单纯性CHD患儿和同期在该院进行体检或就诊的160例非心脏病幼儿分别作为病例组和对照组,采用访谈方式进行问卷调查,获得研究对象母亲孕期环境危险因素暴露信息,采集研究对象空腹静脉,血应用聚合酶链反应-限制性片段长度多态性分析法(PCR-RFLP)检测CYP450基因多态性;应用单因素和多因素条件logistic回归模型分析子代CYP450基因多态性和母亲孕期环境危险因素暴露与CHD发病的关联强度,并采用相加模型交互作用指标评价二者的交互作用。结果多因素条件logistic回归分析结果显示,子代CYP1A1基因rs1048943位点纯合子突变型是CHD发病的保护因素(OR=0.369,95%CI=0.138~0.986);母亲孕前3个月使用染发剂(OR=5.621.95%CI=1.401~22.541)、孕前3个月被动吸烟(OR=2.511,95%CI=1.342~4.699)、孕早期被动吸烟(OR=2.441,95%CI=1.306~4.561)、孕早期居住在3年内装修过的居室(OR=4.159,95%CI=1.698~10.182)和孕早期服用解热镇痛药(OR=3.901,95%CI=1.271~11.971)是CHD发病的危险因素。交互作用分析结果显示,子代携带CYPIA1 rs1048943位点纯合子突变型有减弱环境因素致病风险的趋势,但交互作用指标无统计学意义。结论子代携带CYP1A1纯合子突变型对CHD发病有保护作用,母亲孕前及孕早期应尽量避免或减少环境危险因素的暴露,以预防子代CHD的发生。
Objective To investigate the relationship between CYP450 gene polymorphisms in children and the exposure of environmental risk factors during pregnancy and congenital heart disease (CHD) and their interaction in the pathogenesis of CHD. Methods A case-control study was conducted in 160 children with CHD diagnosed at the first affiliated hospital of Jining Medical College of Shandong Province from October 2011 to January 2013, who underwent physical examination or treatment in the same period 160 cases of non-heart disease children as case group and control group, using interview methods to conduct questionnaire survey to obtain the mother’s exposure to environmental risk factors during pregnancy, collection of fasting veins of the study, blood application of polymerase chain reaction - restriction fragment length CYP450 gene polymorphism was detected by PCR-RFLP. Univariate and multivariate conditional logistic regression models were used to analyze the correlation between CYP450 gene polymorphism and exposure of environmental risk factors and the incidence of CHD. Interaction model of interaction model to evaluate the interaction between the two. Results The multivariate conditional logistic regression analysis showed that homozygous mutation of rs1048943 locus of CYP1A1 gene was the protective factor of CHD (OR = 0.369, 95% CI = 0.138-0.986); the hair dye ( OR = 5.621.95% CI = 1.401-22.541). Passive smoking was found in the first 3 months of pregnancy (OR = 2.511, 95% CI = 1.342-4.699) and passive smoking in the first trimester (OR = 2.441, 95% CI = 1.306-4.561) (OR = 4.159, 95% CI = 1.698-10.182) and antipyretic and analgesic drugs during the first trimester (OR = 3.901, 95% CI = 1.271-11.971) Risk factors. The results of interaction analysis showed that the offspring carrying CYPIA1 rs1048943 homozygous mutation had the tendency to reduce the risk of environmental factors, but the interaction indicators had no statistical significance. Conclusion Carrying offspring of homozygous CYP1A1 homozygote has a protective effect on the pathogenesis of CHD. Prenatal and early pregnancy should avoid or reduce the exposure of environmental risk factors to prevent the occurrence of CHD in offspring.