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P2‐081: Association Study of SORL1 GENE SNP RS1133174 with The Risk of Amnestic Mild Cognitive Impairment
Author(s) -
Jin Chunhui,
Liu Xiaowei,
Zhang Feng,
Zhu Jianzhong,
Cheng Zaohuo
Publication year - 2016
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2016.06.1286
Subject(s) - single nucleotide polymorphism , snp , allele , logistic regression , polymorphism (computer science) , han chinese , genetics , medicine , allele frequency , biology , population , gene , genotype , oncology , environmental health
Background:Alzheimer’s disease (AD) is the most common form of dementia in the elderly individuals, resulting from a complex interaction between environmental and genetic factors. Impaired brain iron homeostasis has been recognized as an important mechanism underlying the pathogenesis of this disease. Genome wide association studies (GWAS) in which hundreds of thousands of single-nucleotide polymorphisms (SNPs) are tested for association with a disease in hundreds or thousands of persons. Although there are several kinds of GWAS studies for AD with the Caucasian population, the studies for Asians, in particular Koreans are not sufficient. In this study, we identified several high-risk single nucleotide polymorphisms (SNPs) associated with AD in Korean population. Methods:The study consisted of 211 normal subjects and 357 AD patients from the Korean population. The two groups were further divided as 137 male and 220 female in the control group and 87 male and 124 female in the AD group respectively. The individuals aged above 50 were included to check the association with LOAD. Blood samples collected from those groups were SNP genotyped. Results: The highly AD-associated SNPs were rs4848905 (CNTNAP5) and rs75605691 (VPS13A-AS1). In addition, we performed the correlation analysis between these AD high-risk SNPs and the neuropsychological test scores in normal control group. Surprisingly, these two SNPs (rs4848905 and rs75605691) showed the strong correlations with COWAT neuropsychological assessments. Conclusions: These results suggest that the AD-risk genetic factors may cause the cognitive changes in the normal state. Taken together, the genetic variants identified in this study can serve as the potential diagnostic markers in the early diagnosis of Alzheimer’s disease.