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目的探讨新疆维吾尔族血管紧张素转换酶(angiotensin-converting enzyme,ACE)、载脂蛋白E(apolipoprotein E,ApoE)基因单核苷酸多态性位点(single nucleotide polymorphism site,SNPs)与糖尿病的关系。方法采用整群抽样法抽取喀什地区不同经济水平的3个乡镇/街道居民772例,根据是否有糖尿病分为糖尿病组112例和对照组660例,应用HaPloview 4.2软件查找ACE基因、ApoE基因标签SNPs,采用PCR-高分辨率熔点曲线对ACE基因、ApoE基因SNPs标签位点进行基因分型,比较2组ACE、ApoE基因标签SNPs基因型、等位基因分布频率,分析标签位点间的连锁不平衡和单倍体型。结果 2组ACE基因6个SNPs和ApoE基因2个SNPs基因型和等位基因频率分布比较差异均无统计学意义(P>0.05);ACE基因rs4353和rs4461142位点存在较弱的连锁不平衡(D’=0.80,r~2=0.650),ApoE基因rs405509和rs769450位点存在连锁不平衡(D’=0.92,r~2=0.492);糖尿病组ApoE基因rs405509和rs769450构成的A-C单倍体型等位基因频率(33.6%)明显高于对照组(26.6%)(P<0.05),ACE基因rs4353和rs4461142构成的单倍体型等位基因频率与对照组比较差异均无统计学意义(P>0.05)。结论 ACE基因6个标签位点SNPs可能与糖尿病发病无关;ApoE基因2个标签位点SNPs基因型及等位基因频率与糖尿病发生无关,其构成的单倍体型可能与糖尿病发生有一定关系。
Objective To investigate the relationship between angiotensin-converting enzyme (ACE), apolipoprotein E (ApoE) single nucleotide polymorphism site (SNP) and diabetes mellitus relationship. Methods A total of 772 villages / townspeople with different economic levels in Kashgar region were sampled by cluster sampling method. According to whether there were diabetes mellitus, 112 cases were divided into diabetic group and 660 cases in control group. HaPloview 4.2 software was used to search ACE gene, ApoE gene tag SNPs , PCR-high resolution melting point curve was used to genotype the SNPs of ACE gene and ApoE gene. The genotype and allele frequencies of ACE and ApoE gene tag SNPs in two groups were compared to analyze the linkage between the tagged sites Balance and haplotype. Results There were no significant differences in genotype and allele frequency distribution between 6 SNPs of ACE gene and 2 SNPs of ApoE gene in two groups (P> 0.05). There was a weaker linkage disequilibrium between rs4353 and rs4461142 D ’= 0.80, r ~ 2 = 0.650). There was a linkage disequilibrium between rs405509 and rs769450 sites of ApoE gene (D’ = 0.92, r ~ 2 = 0.492); AC haplotypes such as rs405509 and rs769450 The allele frequencies of rs4353 and rs4461142 in ACE gene were significantly higher than those in control group (P <0.05) (P> 0.05). The frequency of allele in control group was significantly higher than that in control group (33.6% vs 26.6%, P <0.05) ). CONCLUSION: SNPs at 6 loci of ACE gene may not be related to the pathogenesis of diabetes. The genotypes and allele frequencies of SNPs at 2 loci in ApoE gene are independent of the occurrence of diabetes. The haplotypes may be related to the development of diabetes.