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目的探讨内皮素转化酶1(ECE1)基因C338A和T839G多态性位点对散发型先天性心脏病(CHD)易感性的影响。方法采用Taqman探针法检测1290例CHD患者和1323例正常对照人群ECE1C338A和T839G基因型,并分析其与散发型CHD发病风险间的相关性。结果与ECE1C338ACC基因型相比,AC、AA+AC基因型的散发型CHD发病风险增加(OR=1.47、1.43,95%CI=1.24~1.76、1.21~1.69)。与ECE1T839GTT基因型相比,GG+TG基因型的散发型CHD发病风险增加(OR=1.27,95%CI=1.08~1.51)。女性患者(OR=1.67,95%CI=1.30~2.16)携带2~4个危险等位基因比男性患者(OR=1.43,95%CI=1.15~1.77)更与散发型CHD发病风险相关。携带2~4个危险等位基因的人群与法洛四联征(OR=2.01,95%CI=1.28~3.14)、膜周部室间隔缺损(OR=1.66,95%CI=1.34~2.06)和动脉导管未闭(OR=1.68,95%CI=1.01~2.81)发病风险有关。结论在中国人群中,ECE1基因C338A和T839G多态性位点可能导致散发型CHD发病风险的增加。
Objective To investigate the effect of endothelin converting enzyme 1 (ECE1) gene C338A and T839G polymorphisms on susceptibility to sporadic congenital heart disease (CHD). Methods The genotypes of ECE1C338A and T839G in 1290 CHD patients and 1323 normal controls were detected by Taqman probe and their correlation with the risk of sporadic CHD was analyzed. Results Compared with ECE1C338ACC genotype, the incidence of sporadic CHD was increased in AC, AA + AC genotypes (OR = 1.47, 1.43, 95% CI = 1.24-1.72, 1.21-1.69). Compared with the ECE1T839GTT genotype, the GG + TG genotype had an increased risk of sporadic CHD (OR = 1.27, 95% CI = 1.08-1.51). Female patients (OR = 1.67, 95% CI = 1.30-2.16) had 2-4 risk alleles associated with the risk of sporadic CHD compared with male patients (OR = 1.43,95% CI = 1.15-1.77). Patients with 2-4 risk alleles were associated with tetralogy of Fallot (OR = 2.01, 95% CI = 1.28-3.14), perimembranous ventricular septal defect (OR = 1.66, 95% CI = Patent ductus arteriosus (OR = 1.68,95% CI = 1.01 ~ 2.81) risk of onset. Conclusion The C338A and T839G polymorphisms of ECE1 gene may lead to the increased risk of sporadic CHD in Chinese population.