title: Assessment of TREM2 rs75932628 association with Alzheimer's disease in a population-based sample: the Cache County Study.
abstract: 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.
authors.affiliation: Department of Biology, Brigham Young University, Provo, UT, USA.
authors.forename: Josue D
authors.initials: JD
authors.lastname: Gonzalez Murcia
authors.forename: Cameron
authors.initials: C
authors.lastname: Schmutz
authors.forename: Caitlin
authors.initials: C
authors.lastname: Munger
authors.forename: Ammon
authors.initials: A
authors.lastname: Perkes
authors.forename: Aaron
authors.initials: A
authors.lastname: Gustin
authors.forename: Michael
authors.initials: M
authors.lastname: Peterson
authors.forename: Mark T W
authors.initials: MT
authors.lastname: Ebbert
authors.forename: Maria C
authors.initials: MC
authors.lastname: Norton
authors.forename: Joann T
authors.initials: JT
authors.lastname: Tschanz
authors.forename: Ronald G
authors.initials: RG
authors.lastname: Munger
authors.forename: Christopher D
authors.initials: CD
authors.lastname: Corcoran
authors.forename: John S K
authors.initials: JS
authors.lastname: Kauwe
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics*; D005787:Gene Frequency; D014644:Genetic Variation / Q000235:genetics*; D005828:Genetics, Population / Q000379:methods*; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D011971:Receptors, Immunologic / Q000235:genetics*; D012307:Risk Factors; D018401:Sample Size; D014589:Utah
chemical_list: D008562:Membrane Glycoproteins; D011971:Receptors, Immunologic; C498715:TREM2 protein, human
keywords: Alzheimer's disease; Human; R47H; Rare variant; TREM2