期刊
NEUROBIOLOGY OF AGING
卷 34, 期 12, 页码 -出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2013.06.004
关键词
Alzheimer's disease; Human; TREM2; Rare variant; R47H
资金
- NIH [R01AG11380, R01AG21136, R01AG31272, R01AG042611]
- Alzheimer's Association [MNIRG-11-205368]
- Charleston Conference on Alzheimer's Disease
- Brigham Young University Gerontology Program
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. (C) 2013 Elsevier Inc. All rights reserved.
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