ApoE基因rs429358和rs7412位点基因多态性与喀什地区维吾尔族人群尿道结石的关系研究

Relationship between ApoE gene rs429358 and rs7412 loci gene polymorphism and urethral calculus of Uyghur population in Kashgar Prefecture

目的分析载脂蛋白E(ApoE)基因rs429358和rs7412位点基因多态性与喀什地区维吾尔族人群尿道结石的关系。方法选取喀什地区第二人民医院泌尿外科2016年6月至2018年6月收治的216例维吾尔族尿道结石患者为观察组,另选取同期体检的216例维吾尔族健康者为对照组。比较两组ApoE基因rs429358和rs7412位点基因型及等位基因频率分布情况;比较两组血脂相关指标[总胆固醇(TC)、三酰甘油(TG)、低密度脂蛋白胆固醇(LDL-C)、高密度脂蛋白胆固醇(HDL-C)、载脂蛋白A、载脂蛋白B及ApoE]水平。结果观察组ApoE基因rs429358位点TT、TC基因型频率分别为70.83%和29.17%,T、C等位基因频率分别为85.42%和14.58%,与对照组比较,差异均有统计学意义(P<0.05)。观察组ApoE基因rs7412位点TT、TC、CC基因型频率分别为1.85%、12.96%和85.19%,T、C等位基因频率分别为8.33%和91.67%,与对照组比较,差异均无统计学意义(P>0.05)。观察组TG、TC、LDL-C及ApoE水平均高于对照组,HDL-C水平低于对照组,差异有统计学意义(P<0.05)。结论喀什地区维吾尔族人群ApoE基因rs429358位点是尿道结石的易感基因位点,其可能通过影响血脂水平而使尿道结石的发生风险增加。

Objective To analyze the relationship between apolipoprotein E(ApoE)gene rs429358 and rs7412 loci gene polymorphism and urethral calculus of Uyghur population in Kashgar Prefecture.Methods From June 2016 to June 2018,216 Uyghur patients with urethral calculus admitted to the urology department of the Second People′s Hospital of Kashgar Prefecture were selected as the observation group.In addition,216 Uyghur healthy persons who underwent physical examination in the same period were selected as the control group.The genotype and allele frequency distribution of ApoE gene rs429358 and rs7412 loci were compared between the two groups.The levels of the blood lipid-related indexes[total cholesterol(TC),triacylglycerol(TG),low density lipoprotein cholesterol(LDL-C),high density lipoprotein cholesterol(HDL-C),apolipoprotein A,apolipoprotein B and ApoE]of the two groups were compared.Results The frequencies of TT and TC genotypes of ApoE gene rs429358 loci in the observation group were 70.83%and 29.17%respectively,and the frequencies of T and C alleles were 85.42%and 14.58%respectively,compared with the control group,the differences were statistically significant(P<0.05).The frequencies of TT,TC and CC genotypes of ApoE gene rs7412 loci in the observation group were 1.85%,12.96%and 85.19%respectively,and the frequencies of T and C alleles were 8.33%and 91.67%respectively,compared with the control group,the differences were not statistically significant(P>0.05).The levels of TG,TC,LDL-C and ApoE in the observation group were higher than those in the control group,and the level of HDL-C was lower than that in the control group,the differences were statistically significant(P<0.05).Conclusion The ApoE gene rs429358 loci of Uyghur population in Kashgar Prefecture is a susceptible gene loci of urethral calculus,which may increase the risk of urethral calculus through the influence on blood lipid levels.