Abstract

Haplotype associations of 894 DNA samples of elderly people from the Russian population of Tomsk were analyzed using 49 SNPs (single nucleotide polymorphisms). As the analyzed markers, SNPs were selected that showed an association with Alzheimer’s disease or variability of cognitive abilities in genome-wide association studies. As a result of the analysis, blocks on chromosomes 1, 2, 6, 8, 11, 19, and 20 were identified. Significant associations were shown, taking into account 50 000 permutations, for haplotypes localized on chromosomes 1 and 19 in the genes CR1 and APOE, APOC1, respectively. Our results confirm the role of the APOE and CR1 genes in the pathogenesis of Alzheimer’s disease in the Russian population.

中文翻译：

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俄罗斯人口中单倍型与阿尔茨海默氏病和轻度认知障碍的关联分析

摘要

使用49个SNP（单核苷酸多态性）分析了来自俄罗斯托木斯克人口的894个老年人的DNA样本的单体型关联。作为分析标记，选择在全基因组关联研究中显示与阿尔茨海默氏病或​​认知能力变异相关的SNP。作为分析的结果，鉴定出1、2、6、8、11、19和20号染色体上的区块。显示了重要的关联，考虑到5万个排列，分别位于基因CR1和APOE和APOC1中的1号和19号染色体上的单倍型。我们的结果证实了APOE和CR1的作用 俄罗斯人群阿尔茨海默氏病发病机理中的一些基因。