TREM2 is associated with the risk of Alzheimer's disease in Spanish population

被引：95

作者：

Benitez, Bruno A. ^{[1
]}

Cooper, Breanna ^{[1
]}

Pastor, Pau ^{[2
,3
]}

Jin, Sheng-Chih ^{[1
]}

Lorenzo, Elena ^{[2
]}

Cervantes, Sebastian ^{[2
]}

Cruchaga, Carlos ^{[1
,4
]}

机构：

[1] Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA

[2] Univ Navarra, Ctr Appl Med Res, Div Neurosci, Neurogenet Lab, E-31080 Pamplona, Spain

[3] Univ Navarra Clin, Sch Med, Dept Neurol, Pamplona, Spain

[4] Washington Univ, Sch Med, Hope Ctr Program Prot Aggregat & Neurodegenerat, St Louis, MO USA

来源：

NEUROBIOLOGY OF AGING | 2013年 / 34卷 / 06期

基金：

美国国家卫生研究院;

关键词：

TREM2; Alzheimer; Spanish; rs75932628; Association; Replication; VARIANTS; DEMENTIA;

D O I：

10.1016/j.neurobiolaging.2012.12.018

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Two recent studies have reported the association of rs75932628-T in the TREM2 gene with the risk for Alzheimer's disease (AD). Rs75932628-T is a rare nonsynonymous variant (p.R47H) that confers a high risk of AD with an effect size similar to that of the APOE epsilon 4 allele. However, this association has not been replicated in any independent studies to date. The allelic frequency of rs75932628 varies according to the population from 0.02% to 0.63% among healthy controls. In an attempt to replicate the association between rs75932628-T and AD risk, we genotyped rs75932628 in a cohort of 504 AD subjects and 550 healthy controls from a Spanish population. Rs75932628-T showed a minor allele frequency of 0.3% among this cohort. Interestingly, in our study, rs75932628-T was found exclusively in 1.4% of AD cases (7/504), including 4 early-onset AD cases, and in none of the controls (n = 0/550). Here, we report the first positive replication study in a Spanish population and confirm that TREM2 rs75932628-T is associated with the risk for AD. (C) 2013 Elsevier Inc. All rights reserved.

引用

页码：1711.e15 / 1711.e17

页数：3

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