Chen J, Xia Y, Gao C L, Wang R X, Lu Z N
Department of Neurology, Renmin Hospital of Wuhan University, Wuhan 430060, China.
Zhonghua Yi Xue Za Zhi. 2018 May 8;98(17):1322-1326. doi: 10.3760/cma.j.issn.0376-2491.2018.17.008.
To investigate the polymorphism of BIN1 and ApoE genes in amnestic mild cognitive impairment (aMCI) patients in Tujia minority area of Enshi, Hubei. A total of 107 patients with aMCI (aMCI group) and 150 healthy people (healthy control group) during the same period were included between December 2016 and October 2017 in Affiliated Minda Hospital of Hubei University for Nationalities, who were all the Tujia nationality. Three single nucleotide polymorphic site of BIN1 gene rs744373, rs7561528, rs6733839, and two single nucleotide polymorphic site of ApoE gene rs429358, rs7412, and Genotyping and sub-genotyping of ApoE genes were tested using ligase detection reaction technique(LDR), and gene polymorphisms of BIN1 and ApoE were analyzed with Logistic regression analysis. The basic information was not statistically significan different between healthy control group and aMCI group (>0.05); there were no statistically significant in genotype distribution among the 3 SNPs of BIN1 gene(rs744373, rs7561528, rs6733839) and between the 2 SNPs of ApoE gene(rs429358, rs7412) and its allelic profile (>0.05), which conformed to Hardy-Weinberg balance; BIN1 gene rs744373 polymorphic site allele C was the risk factor of aMCI ( 2.33, 95% 1.09-4.98, =0.029), especially BIN1 gene rs744373 polymorphic site recessive model CC/CT+ TT increased the risk of aMCI disease ( 2.29, 95% 1.15-4.59, =0.019). The difference in genotype distribution of ApoE sub-genotype ε2/2, ε2/3, ε2/4, ε3/3, ε3/4, ε4/4 and allele ε2, ε3, ε4 genes between two groups were significantly different (<0.05), Carrying ApoEε2 may be a protective factor for aMCI ( 0.46, 95% 0.22-0.96, =0.039) and carrying ApoE ε4 may be a risk factor for aMCI ( 2.13, 95% 1.18-3.83, =0.012). The incidence of aMCI in Tujia region of Enshi may be related to the rs744373 polymorphic site of BIN1 gene, ApoEε2 is the protective factor and ApoEε4 is the risk factor for aMCI in Tujia region of Enshi, but it still needs to be further verified by a large sample population.
为研究湖北恩施土家族地区遗忘型轻度认知障碍（aMCI）患者中BIN1和载脂蛋白E（ApoE）基因的多态性。2016年12月至2017年10月期间，在湖北民族大学附属民大医院纳入了107例aMCI患者（aMCI组）和同期150名健康人（健康对照组），均为土家族。采用连接酶检测反应技术（LDR）检测BIN1基因rs744373、rs7561528、rs6733839三个单核苷酸多态性位点以及ApoE基因rs429358、rs7412两个单核苷酸多态性位点，并对ApoE基因进行基因分型和亚基因分型，采用Logistic回归分析方法分析BIN1和ApoE基因多态性。健康对照组与aMCI组基本信息差异无统计学意义（>0.05）；BIN1基因3个单核苷酸多态性位点（rs744373、rs7561528、rs6733839）及ApoE基因2个单核苷酸多态性位点（rs429358、rs7412）及其等位基因的基因型分布差异无统计学意义（>0.05），符合Hardy-Weinberg平衡；BIN1基因rs744373多态性位点等位基因C是aMCI的危险因素（2.33，95%可信区间1.09 - 4.98，P = 0.029），尤其BIN1基因rs744373多态性位点隐性模型CC/CT + TT增加了aMCI疾病的发病风险（2.29，95%可信区间1.15 - 4.59，P = 0.019）。两组间ApoE亚基因分型ε2/2、ε2/3、ε2/4、ε3/3、ε3/4、ε4/4及等位基因ε2、ε3、ε4基因的基因型分布差异有统计学意义（<0.05），携带ApoEε2可能是aMCI的保护因素（0.46，95%可信区间0.22 - 0.96，P = 0.039），携带ApoEε4可能是aMCI的危险因素（2.13，95%可信区间1.18 - 3.83，P = 0.012）。恩施土家族地区aMCI的发病可能与BIN1基因rs744373多态性位点有关，ApoEε2是恩施土家族地区aMCI的保护因素，ApoEε4是危险因素，但仍需大样本量人群进一步验证。
