Assessment of TREM2 rs75932628 association with Alzheimer's disease in a population-based sample: the Cache County Study
详细信息 查看全文
- 作者：Josue D. Gonzalez Murcia ; Cameron Schmutz ; Caitlin Munger ; Ammon Perkes ; Aaron Gustin ; Michael Peterson ; Mark T.W. Ebbert ; Maria C. Norton ; JoAnn T. Tschanz ; Ronald G. Munger ; Christopher D. Corcoran ; John S.K. Kauwe
- 关键词：Alzheimer's disease ; Human ; TREM2 ; Rare variant ; R47H
- 刊名：Neurobiology of Aging
- 出版年：2013
- 出版时间：December, 2013
- 年：2013
- 卷：34
- 期：12
- 页码：2889.e11-2889.e13
- 全文大小：172 K
文摘
Recent studies have identified the rs75932628 (R47H) variant in TREM2 as an Alzheimer's disease risk factor with estimated odds ratio ranging from 2.9 to 5.1. The Cache County Memory Study is a large, population-based sample designed for the study of memory and aging. We genotyped R47H in 2974 samples (427 cases and 2540 control subjects) from the Cache County study using a custom TaqMan assay. We observed 7 heterozygous cases and 12 heterozygous control subjects with an odds ratio of 3.5 (95 % confidence interval, 1.3-8.8; p?= 0.0076). The minor allele frequency and population attributable fraction for R47H were 0.0029 and 0.004, respectively. This study replicates the association between R47H and Alzheimer's disease risk in a large, population-based sample, and estimates the population frequency and attributable risk of this rare variant.