新疆维吾尔族PCSK9基因多态性与冠心病的相关性探讨  

Relationship between E670G Polymorphism of PCSK9 Gene and Susceptibility to Coronary Heart Disease of Uygur Population in Xinjiang Uygur Autonomous Region

作　　者：单雪峰[1] 刘成[1] 孙清超[1] 晋小闯[1] 马松峰[1] 

机构地区：[1]新疆医科大学第一附属医院,乌鲁木齐830054

出　　处：《中西医结合心脑血管病杂志》2016年第17期1953-1958,共6页Chinese Journal of Integrative Medicine on Cardio-Cerebrovascular Disease

基　　金：新疆维吾尔自治区自然科学基金(No.2014211C076)

摘　　要：目的探讨新疆维吾尔族人类前蛋白转化酶枯草溶菌素9(PCSK9)基因E670G多态性位点与冠心病(CHD)的相关性。方法选择2013年1月—2014年12月在新疆医科大学第一附属医院冠心病科住院的CHD病人368例(维吾尔族176例,汉族192例)作为CHD组,同期在新疆医科大学第一附属医院体检的健康体检者372名(维吾尔族167名,汉族205名)作为对照组。应用聚合酶链反应测定E670G基因的多态性,并采用基因测序法验证。结果 1CHD组总胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)水平显著高于健康对照组,高密度脂蛋白胆固醇(HDL-C)水平显著低于健康对照组,差异有统计学意义(P<0.05)。2CHD组和对照组各基因型间三酰甘油(TG)、HDL-C水平比较差异无统计学意义;而CHD组和对照组AG基因型TC水平比较差异有统计学意义(P<0.05),LDL-C水平差异有统计学意义(P<0.05);CHD组AA基因型TC及LDL-C水平明显高于对照组AA基因型(P<0.05),CHD组AG基因型TC及LDL-C水平明显高于对照组AG基因型,差异有统计学意义(P<0.05)。3CHD组与对照组PCSK9基因的AG基因型及G等位基因频率增多,AA基因型减少,AA基因型、AG基因型及G等位基因分布差异有统计学意义(P<0.05)。4新疆维吾尔族AG基因型及G等位基因频率均高于汉族,新疆维吾尔族AA基因型及A等位基因频率均低于汉族,两民族间基因型和等位基因频率分布差异有统计学意义(P<0.05)。5新疆维吾尔族CHD组AG基因型、G等位基因频率均高于对照组,CHD组AA基因型及A等位基因频率均低于对照组,差异有统计学意义(P<0.05)。结论 PCSK9基因E670G多态性位点主要以AA和AG基因型存在,CHD病人PCSK9基因E670G多态性与TC、LDL-C水平升高相关,新疆维、汉两民族E670G多态性存在差异,PCSK9基因E670G多态性对维吾尔族CHD的发生发展存在影响,G等位基因可能是维吾尔族CHD病人的危险因素。Objective To investigate the frequency distribution of proprotein convertase subtilisin/kexin 9 （ PCSK9）gene E670G poly -morphism and their relationship with coronary heart disease （ CHD）between of Uygur population in Xinjiang Uygur Autonomous Re -gion.Methods The E670G polymorphism was identified by polymerase chain reaction restriction fragment length polymorphism in368 patients with CHD （ including 176 Uygurs and 192 Han population）and 372 health controls （ including 167 Uygurs healthy individ -uals and 205 Han healthy individuals） , and some specimens were sequenced.Results The levels of total cholesterol （ TC）and lowdensity lipoprotein cholesterol （ LDL C）in CHD group were significantly higher than that in control group, high density lipoproteincholesterol （ HDL C）level in CHD group was significantly lower than that in control group（ P 〈0.05） .There was no difference in thelevels of HDL C and triglyceride （ TG）between CHD group and control group genotypes.There was difference in the levels of TC,LDL C between CHD group and the control group AG genotype（ P 〈0.05） .TC levels and LDL C levels of CHD group AA genotypewas significantly higher than that of control group AA genotype （ P 〈0.05） .The levels of TC and LDL C in CHD group AG genotypewas significantly higher than that of control group AG genotype（ P 〈0.05） .CHD group ATG genotypes and G allele frequency in thecontrol group increased PCSK9 gene, AA genotype reduction,AA genotype differences AG genotype and G allele was statisticallysignificant （ P 〈0.05） .Xinjiang Uygur AG genotype and G allele were higher than the Han, Uygur AA genotypes and A allele frequen -cies were lower than the Han nationality, the distribution of genotypes and allele frequencies between the two groups was statisticallysignificant （ P 〈0.05） .AG genotype, G allele frequencies in Xinjiang Uygur CHD group were higher,AA genotypes and A allele fre -quencies in CHD group were lower than that in control group, the diffe

关 键 词：冠心病 维吾尔族 多态性 人类前蛋白转化酶枯草溶菌素9 总胆固醇 低密度脂蛋白胆固醇 高密度脂蛋白胆固醇 三酰甘油 

分 类 号：R541.4[医药卫生—心血管疾病] R256.2[医药卫生—内科学]