作者：包瑞婷，吐玛热斯·塔外库力，哈斯也提·依不来音

单位：

830000新疆维吾尔自治区乌鲁木齐市，新疆医科大学第二附属医院神经内科 通信作者：哈斯也提·依不来音，E-mail：3236321936@qq.com

Units：

Department of Neurology, Second Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China Corresponding author: HASIYETI·Yibulaiyin, E-mail: 3236321936@qq.com

关键词：

阿尔茨海默病; 聚集素; 基因; 多态性,单核苷酸;

Keywords：

Alzheimer disease; Clusterin; Genes; Polymorphism, single nucleotide

CLC：

DOI：

10.12114/j.issn.1008-5971.2022.00.163

Funds：

新疆维吾尔自治区自然科学基金资助项目（2016D01C200）

摘要：

目的 探讨聚集素(CLU)基因多态性与散发性阿尔茨海默病(AD)的关联性。方法 选取2017年8月至2019年6月在新疆医科大学第二附属医院、新疆医科大学第七附属医院、乌鲁木齐市六道湾医院就诊的散发性AD患者131例为病例组,选取同期在新疆医科大学第二附属医院进行体检的非AD患者或健康志愿者128例为对照组。检测两组受试者CLU基因多态性;汉族受试者发生散发性AD的影响因素分析采用加性模型分析;采用Haploview软件计算CLU基因上rs11136000-rs1532278单体型基因型(TT和CC)频率。结果 病例组汉族受试者rs11136000、rs1532278位点TC基因型占比低于对照组,CC基因型占比高于对照组(P <0.05)。加性模型分析结果显示,rs11136000[OR=0.424,95%CI(0.192,0.935)]、rs1532278[OR=0.424,95%CI(0.192,0.935)]位点等位基因T是汉族受试者发生AD的保护因素(P<0.05)。病例组汉族受试者rs11136000、rs1532278位点TT、TC基因型占比低于维吾尔族,CC基因型占比高于维吾尔族(P<0.05)。病例组汉族受试者rs11136000、rs1532278位点等位基因T频率低于维吾尔族(P<0.05)。病例组汉族受试者CLU基因上rs11136000-rs1532278单体型TT基因型频率高于维吾尔族(P<0.05)。结论 CLU基因rs11136000、rs1532278位点多态性与新疆汉族人群发生散发性AD有关,其中携带等位基因T可降低其散发性AD发生风险;此外,rs11136000、rs1532278位点多态性在新疆汉族与维吾尔族散发性AD患者中存在明显差异。

Abstract：

【Abstract】　Objective To investigate the association between clusterin (CLU) gene polymorphism and sporadicAlzheimer's disease (AD) . Methods A total of 131 sporadic AD patients who were treated in Second Affiliated Hospital ofXinjiang Medical University, the Seventh Affiliated Hospital of Xinjiang Medical University, and Liudaowan Hospital in UrumqiCity from August 2017 to June 2019 were selected as the case group, and a total of 128 non-AD patients or healthy volunteers whounderwent physical examination in Second Affiliated Hospital of Xinjiang Medical University during the same period were selectedas the control group. The CLU gene polymorphisms in the two groups were detected; additive model analysis was used to analyzethe influencing factors of AD in Han subjects; Haploview software was used to calculate the rs11136000-rs1532278 haplotypegenotype (TT and CC) frequencies on the CLU gene. Results The proportion of TC genotypes at rs11136000 and rs1532278 lociin Han subjects in the case group was lower than that in the control group, and the proportion of CC genotypes was higher than thatin the control group (P <0.05) . Additive model analysis showed that allele T at rs11136000 [OR=0.424, 95%CI (0.192, 0.935) ]and rs1532278 [OR=0.424, 95%CI (0.192, 0.935) ] was protective factor for AD in Han subjects (P <0.05) . In the case group ,the proportion of TT and TC genotypes at rs11136000 and rs1532278 in Han subjects was lower than that of Uygur subjects, andthe proportion of CC genotypes was higher than that of Uygur subjects (P <0.05) . The frequency of T alleles at rs11136000 andrs1532278 loci in the Han subjects in the case group was lower than that in the Uygur subjects (P <0.05) . The frequency of thers11136000-rs1532278 haplotype TT genotype in the CLU gene of the Han subjects in the case group was higher than that of theUygur subjects (P <0.05) .Conclusion CLU gene rs11136000 and rs1532278 loci polymorphisms are associated with sporadicAD in Xinjiang Han population, and carrying allele T can reduce the risk of sporadic AD. In addition, rs11136000 and rs1532278loci polymorphisms are significantly different between Xinjiang Han and Uygur sporadic AD patients.

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