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.
|Journal||Neurobiology of Aging|
|State||Published - Dec 2013|
Bibliographical noteFunding Information:
This work was supported by grants from NIH ( R01AG11380 , R01AG21136 , R01AG31272 , R01AG042611 ), the Alzheimer's Association ( MNIRG-11-205368 ), the Charleston Conference on Alzheimer's Disease and the Brigham Young University Gerontology Program . The authors thank the participants and staff of the Dementia Progression Study, the Utah Population Database, and the Cache County Study on Memory Health and Aging for their important contributions to this work. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
- Alzheimer's disease
- Rare variant
ASJC Scopus subject areas
- Neuroscience (all)
- Developmental Biology
- Clinical Neurology
- Geriatrics and Gerontology