CALHM1基因多态性与晚发型阿尔茨海默病无关。
CALHM1 polymorphism is not associated with late-onset Alzheimer disease.
作者信息
Beecham Gary W, Schnetz-Boutaud Nathalie, Haines Jonathan L, Pericak-Vance Margaret A
机构信息
Miami Institute for Human Genomics, University of Miami, Miami, FL, USA.
出版信息
Ann Hum Genet. 2009 May;73(Pt 3):379-81. doi: 10.1111/j.1469-1809.2009.00509.x.
Data suggests that the P86L polymorphism (rs2986017) in the calcium homeostasis modulator 1 (CALHM1) gene interferes with CALHM1 functionality, increases Abeta levels, and is associated with late-onset Alzheimer's disease (LOAD). Previous studies have demonstrated association with P86L and LOAD in three of five case-control cohorts, and a joint analysis of all datasets showed association with a p-value of 2 x 10(-10) and an allele-specific odds ratio of 1.44 (2,043 cases, 1,361 controls total). In this short communication we attempt to replicate these results in our case-control cohort (510 cases, 524 controls). We show no association between P86L and LOAD despite having sufficient power to detect at the reported odds ratios, and briefly discuss potential reasons for the discrepancy.
数据表明，钙稳态调节剂1（CALHM1）基因中的P86L多态性（rs2986017）会干扰CALHM1的功能，增加β淀粉样蛋白水平，并与晚发性阿尔茨海默病（LOAD）相关。先前的研究已在五个病例对照队列中的三个队列中证明了P86L与LOAD之间的关联，并且对所有数据集的联合分析显示，其关联的p值为2×10⁻¹⁰，等位基因特异性比值比为1.44（总共2043例病例，1361例对照）。在本简短通讯中，我们试图在我们的病例对照队列（510例病例，524例对照）中重复这些结果。尽管有足够的能力按照报告的比值比进行检测，但我们并未发现P86L与LOAD之间存在关联，并简要讨论了差异存在的潜在原因。
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