分拣蛋白相关受体1基因多态性与阿尔茨海默病的相关性研究

The study of association between genetic variants in sortilin-related receptor 1 and Alzheimer＇s disease

目的通过对阿尔茨海默病（AD）患者分拣蛋白相关受体1（SORu）基因位点进行多态性检测，探讨该基因多态性与AD的关系。方法采用单碱基多位点微测序法（SnaPshot），根据文献命名选取SNPl0、19、23、24、25、27位点检测，比较AD组（33例）和对照组（51例）的基因型和等位基因频率的分布。结果SNPsl9，23，24，25基因型两组间分布差异有统计学意义，SNPl9TT基因型为保护基因型（OR=0．089，95％CI：0．011～0．718，P〈0．01）；SNP23AT基因型（OR=3．826，95％CI：1．388～10．544，P〈0．01）、SNP24CT基因型（oR一5．935，95％CI：1．774～19．853，P〈O．01）和SNP25CT基因型（0R=5．754，95％CI：2．007～16．496，P〈O．01）与AD患病相关。结论sORLl基因的SNPsl9，23，24，254个位点的多态性与AD患病存在关联，可能增加散发性AD的患病风盼。

Objective To investigate the association between gene polymorphism of sortilin- related receptor 1 （SORL1） and Alzheimerr s disease by detecting a series of single nucleotide polymorphisms （SNPs）. Methods The Snapshot method was used to genotype 6 SNPs （SNP10, 19, 23, 24, 25,27） in SORL1 and the distributions of allele and genotype of the 6 SNPs were compared between AD patients and healthy control individuals. Results There were significant differences in the genotype distributions of SNP19, 23, 24 and 25 between AD patients and control group （all P^0.01）. Subjects with TT genotype in SNP19 had significantly lower risk for AD and was protective for AD （OR=0. 089, 95%CI： O. 011-0. 718, P^0.01）. The AT genotype in SNP23 （OR=3. 826, 95%CI：1. 388-10. 544, P〈0.01）, CT genotype in SNP24（OR=5. 935, 95%CI：1. 774-19. 853, P〈0.01）and CT genotype in SNP25（OR=5. 754, 95%CI：2. 007-16. 496, P〈0.01）had higher risks for AD. Conclusions SORL1 gene variants of SNP19, 23, 24 and 25 might be the important risk {actors for late-onset AD.