SORL1、EPHA1基因多态性与新疆维吾尔族及汉族Alzheimer’s病的相关性研究  

Study on the relationship between Alzheimer’s disease and SORL1,EPHA1 polymorphism in Xinjiang Uygur and Han nationality

作　　者：王晓蓓 再图那木·麦麦提明 马衣日木·赛买提[1] 王倩[1] 哈斯也提·依不来音[1] 白睿 WANG Xiao-bei;Zaitunamu Maimaitiming;Mayirimu Saimaiti(Department of Neurology,the Second Affiliated Hospital of Xinjiang Medical University,Urumqi 830000,China)

机构地区：[1]新疆医科大学第二附属医院神经内科,乌鲁木齐830000

出　　处：《临床神经病学杂志》2020年第2期128-134,共7页Journal of Clinical Neurology

基　　金：新疆维吾尔自治区自然科学基金(2016D01C200)。

摘　　要：目的研究新疆地区汉族、维吾尔族Alzheimer’s病(AD)患者SORL1基因、EPHA1基因多态性,探讨SORL1基因及EPHA1基因多态性与AD的相关性。方法应用PCR测序技术对新疆地区131例散发AD患者(维吾尔族72例、汉族59例)以及128例对照者(维吾尔族63例、汉族65例)进行SORL1基因及EPHA1基因7个SNP位点rs1699102、rs1010159、rs2282649、rs3824968、rs11767557、rs1525119、rs10233030基因多态性分析。结果SORL1基因中rs1699102、rs1010159、rs2282649、rs3824968病例组和对照组比较差异无统计学意义(均P>0.05)。EPHA1基因型rs11767557、rs1525119、rs10233030位点分布在病例组和对照组之间差异无统计学意义(均P>0.05)。SORL1基因的rs1010159、rs2282649、rs3824968单倍体在维吾尔族AD患者与汉族AD患者比较中差异有统计学意义(均P<0.05),EPHA1基因中rs1525119、rs10233030形成单体型在维吾尔族AD患者与汉族AD患者比较中差异有统计学意义(均P<0.05)。结论SORL1基因的4个SNP位点及EPHA1基因的3个SNP位点与新疆AD患者发生无明显相关性。Objective To study the polymorphism of SORL1 gene and EPHA1 gene in the patients with Alzheimer’s disease(AD)in Uygur and Han populations in Xinjiang and to investigate the relationship between SORL1 gene and EPHA1 gene polymorphism and Alzheimer’s disease.Methods The rs1699102,rs1010159,rs2282649,rs3824968,rs11767557,rs1525119,rs10233030 gene polymorphisms of SORL1 gene and EPHA1 gene were analyzed by PCR sequencing technology in 131 sporadic AD patients(72 cases of Uygur,59 cases of Han)and 128 controls(63 cases of Uygur,65 cases of Han)in Xinjiang area.Results There was no statistically significant difference in the SORL1 gene between rs1699102,rs1010159,rs2282649,rs3824968 case group and control group(all P>0.05).There was no statistically significant difference in the distribution of EPHA1 genotype rs11767557,rs1525119,rs10233030 between case group and control group(all P>0.05).The difference of rs1010159,rs2282649 and rs3824968 of SORL1 gene in the comparison of uygur AD and han AD patients was statistically significant(all P<0.05),and the difference of EPHA1 gene in the comparison of uygur AD and han AD patients was statistically significant(all P<0.05).Conclusion Four SNPs of SORL1 gene and three SNPs of EPHA1 gene have no significant correlation with the occurrence of AD in Xinjiang.

关 键 词：Alzheimer’s病 SORL1基因 EPHA1基因 维吾尔族 汉族 

分 类 号：R749.16[医药卫生—神经病学与精神病学]