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CALHM1、2 和 3 多态性与日本人群阿尔茨海默病的遗传关联。

Genetic association between CALHM1, 2, and 3 polymorphisms and Alzheimer's disease in a Japanese population.

机构信息

Department of Psychiatry, Juntendo University School of Medicine, Tokyo, Japan.

出版信息

J Alzheimers Dis. 2010;20(2):417-21. doi: 10.3233/JAD-2010-1380.

Abstract

A recent paper reported that a variant (rs2986017) of the calcium homeostasis modulator 1 (CALHM1) gene affects risk for late-onset Alzheimer's disease (AD). This study aims to investigate whether single nucleotide polymorphisms (SNPs) of the CALHM1 gene are associated with AD. SNPs in the genes of two other CALHM subtypes, CALHM2 and CALHM3, were also studied. Our study failed to detect any association between the SNPs of the three genes and AD. Although rs729211 showed marginal association in the APOE4 negative group, the linkage disequilibrium analysis results suggest this to be a false positive.

摘要

最近的一篇论文报道称,钙稳态调节剂 1(CALHM1)基因的一个变体(rs2986017)会影响迟发性阿尔茨海默病(AD)的发病风险。本研究旨在探究钙稳态调节剂 1 基因的单核苷酸多态性(SNP)是否与 AD 相关。同时也研究了另外两种 CALHM 亚型(CALHM2 和 CALHM3)的基因中的 SNP。我们的研究未能发现这三个基因的 SNP 与 AD 之间存在任何关联。尽管 APOE4 阴性组中的 rs729211 表现出边缘关联,但连锁不平衡分析结果表明这是一个假阳性。

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