新疆地区维吾尔族与汉族阿尔茨海默病患者19号染色体代表性基因位点多态性及民族差异研究  

Polymorphisms in Alzheimer's Disease-associated Genes on Chr19 in Uygur and Han People with Alzheimer's Disease in Xinjiang:a Comparative Study

作　　者：那扎克提·努尔买买提 马衣日木·赛买提[1] 哈斯也提·依不来音[1] NAZAKETI·Nuermaimaiti;MAYIRIMU·Saimaiti;HASIYETI·Yibulaiyin(The Second Affiliated Hospital of Xinjiang Medical University,Urumqi 830063,China)

机构地区：[1]新疆医科大学第二附属医院,新疆维吾尔自治区乌鲁木齐市830063

出　　处：《实用心脑肺血管病杂志》2020年第10期66-71,共6页Practical Journal of Cardiac Cerebral Pneumal and Vascular Disease

基　　金：新疆维吾尔自治区自然科学基金资助项目(2016D01C200)。

摘　　要：背景全基因组关联分析发现,19号染色体上存在数个阿尔茨海默病(AD)相关易感基因,而分析不同民族AD患者相关易感基因多态性对深入研究AD发病机制及治疗措施具有重要意义。目的分析新疆地区维吾尔族与汉族AD患者19号染色体代表性基因位点多态性及民族差异。方法选取2016年8月—2018年6月在新疆医科大学第二附属医院临床神经诊疗中心及乌鲁木齐市六道湾医院、昌吉市人民医院诊治的AD患者131例作为病例组,另选取同期新疆医科大学第二附属医院的体检健康者128例作为对照组。采用聚合酶链式反应(PCR)扩增测序技术分析ABCA7、TOMM40、CD33、GALP基因位点rs3764650、rs2075650、rs3826656、rs3865444、rs3745833基因型及等位基因。分别比较对照组与病例组中维吾尔族、汉族受试者及维吾尔族与汉族AD患者19号染色体代表性基因位点基因型及等位基因频率。结果对照组与病例组rs3764650、rs2075650、rs3826656、rs3865444、rs3745833的基因型及等位基因频率分布符合Hardy-Weinberg遗传平衡定律(P>0.05)。对照组与病例组中汉族受试者rs3764650、rs2075650、rs3826656、rs3865444基因型、等位基因频率及rs3745833基因型频率比较,差异无统计学意义(P>0.05);但rs3745833等位基因频率比较,差异有统计学意义(P<0.05)。对照组与病例组中维吾尔族受试者rs3764650、rs2075650、rs3826656、rs3865444、rs3745833基因型、等位基因频率比较,差异无统计学意义(P>0.05)。维吾尔族与汉族AD患者rs2075650、rs3865444、rs3745833基因型、等位基因频率及rs3826656基因型频率比较,差异无统计学意义(P>0.05);但rs3764650基因型、等位基因频率及rs3826656等位基因频率比较,差异有统计学意义(P<0.05)。CD33基因rs3826656、rs3865444在汉族受试者、维吾尔族受试者及AD患者中均形成连锁不平衡,其中对照组与病例组中汉族、维吾尔族受试者rs3826656-rs3865444单体�Background Genome-wide association analysis(GWAS)revealed that,there are multiple Alzheimer's disease(AD)related susceptibility genes on Chr19.To intensively explore the pathogenesis and treatment of AD,it is essential to study polymorphisms of these genes in different ethnic groups.Objective To compare the polymorphisms in AD-associated genes on Chr19 in Uygur and Han people with AD in Xinjiang.Methods Uygur and Han participants were enrolled from August 2016 to June 2018,including 131 cases with AD(case group)recruited from Clinical Neurological Center,the Second Affiliated Hospital of Xinjiang Medical University,and Urumqi Liudaowan Hospital and Changji People's Hospital,and 128 cases health examinees(control group)from the Second Affiliated Hospital of Xinjiang Medical University.The genotypes and alleles of SNPs rs3764650,rs2075650,rs3826656,rs3865444 and rs3745833 of ABCA7,TOMM40,CD33 and GALP genes were analyzed by PCR amplification and sequencing.The genotype and allele frequency of representative AD-associated genes on Chr19 were compared in Han or Uygur participants between control group and case group,as well as between Han and Uygur participants in case group.Results The genotype and allele frequency of rs3764650,rs2075650,rs3826656,rs3865444 and rs3745833 distributed in case group and control group conformed to Hardy-Weinberg equilibrium(P>0.05).There were no significant differences of genotype and allele frequency of rs3764650,rs2075650,rs3826656,rs3865444 and genotype frequency of rs3745833 in Han participants between control group and case group(P>0.05),but the allele frequency of rs3745833 differed significantly(P<0.05).There were no significant differences of genotype and allele frequency of rs3764650,rs2075650,rs3826656,rs3865444 and rs3745833 in Uygur participants between control group and case group(P>0.05).There were no significant differences of genotype and allele frequency of rs2075650,rs3865444 and rs3745833,as well as allele frequency of rs3826656 between Han and Uygur participants with

关 键 词：阿尔茨海默病 ABCA7基因 TOMM40基因 CD33基因 GALP基因 多态性 单核苷酸 维吾尔族 汉族 新疆 

分 类 号：R745.7[医药卫生—神经病学与精神病学]