基于人群样本的 TREM2 rs75932628 与阿尔茨海默病相关性评估：Cache 县研究。
Assessment of TREM2 rs75932628 association with Alzheimer's disease in a population-based sample: the Cache County Study.
机构信息
Department of Biology, Brigham Young University, Provo, UT, USA.
出版信息
Neurobiol Aging. 2013 Dec;34(12):2889.e11-3. doi: 10.1016/j.neurobiolaging.2013.06.004. Epub 2013 Jul 12.
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.
摘要
最近的研究发现 TREM2 中的 rs75932628（R47H）变体是阿尔茨海默病的风险因素，其估计优势比范围为 2.9 至 5.1。Cache 县记忆研究是一个大型的、基于人群的样本，旨在研究记忆和衰老。我们使用定制的 TaqMan 测定法对 Cache 县研究中的 2974 个样本（427 例病例和 2540 例对照）进行了 R47H 基因分型。我们观察到 7 个杂合病例和 12 个杂合对照，优势比为 3.5（95%置信区间，1.3-8.8；p=0.0076）。R47H 的次要等位基因频率和人群归因分数分别为 0.0029 和 0.004。这项研究在一个大型的、基于人群的样本中复制了 R47H 与阿尔茨海默病风险之间的关联，并估计了这种罕见变异的人群频率和归因风险。
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