非酒精性脂肪性肝炎的ACE-ID与AT1R-A1166C多态性研究

目的:研究血管紧张素转化酶(ACE)基因ID多态性和血管紧张素Ⅱ1型受体(AT1R)基因A1166C多态性与日本高知地区非酒精性脂肪性肝炎(NASH)易感性的相关性,从基因学角度探讨NASH的发生发展机制,为NASH的预防、诊断和治疗提供一定的理论依据。方法:应用聚合酶链反应-限制性片段长度多态性(PCR-PFLP)方法对日本高知地区104例NASH患者和150例正常人ACE-ID基因和AT1R-A1166C基因多态性进行分析。结果:NASH病例组D等位基因频率显著高于正常对照组(P0.01);NASH病例组的DD基因型频率显著高于正常对照组(P0.01);NASH病例组A等位基因频率与正常对照组相比差异无显著(P(0.05)。NASH病例组AA基因型频率与正常对照组相比差异无显著(P(0.05)。结论:ACE-ID基因位于内含子16上D等位基因与DD基因型与NASH的发生发展显著相关,可能是促进NASH发生的原因之一;AT1R-A1166C基因多态性与NASH的发生发展尚未显示相关性。

Association study of genetic polymorphisms of ACE-ID and AT1R-A1166C with non-alcoholic steatohepatitis

AIM: To investigate the relationship between genetic polymorphisms of angiotensin converting enzyme (ACE) and angiotensin II type 1 receptor (AT1R), and non-alcoholic steatohepatitis (NASH) in Kochi area of Japan.METHODS: In 104 patients with biopsy-proven NASH and 150 healthy volunteers, the genetic polymorphisms in ACE-ID and AT1R -A1166C were determined by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). RESULTS: The D-allele of the ACE-ID polymorphism was more significantly frequent in NASH patients than that in healthy volunteers (P<0.01). The DD-genotype of ACE-ID was more significantly frequent in NASH patients than that in healthy volunteers (P<0.01). The A-allele and the AA-genotype of AT1R -A1166C polymorphism was not significantly different in the genotype distribution in NASH patients than that in healthy volunteers (P>0.05). CONCLUSION: The D-allele and DD-genotype of ACE-ID polymorphism is associated with an increased risk of NASH. The AT1R -A1166C polymorphism of AT1R is not correlated with NASH.