CALHM1 P86L 多态性是阿尔茨海默病发病年龄的遗传修饰因子：一项荟萃分析研究。
The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study.
机构信息
Unité INSERM 744, Institut Pasteur de Lille BP 245,1, rue du professeur Calmette, F59019Lille cedex, France.
出版信息
J Alzheimers Dis. 2010;22(1):247-55. doi: 10.3233/JAD-2010-100933.
Abstract
The only established genetic determinant of non-Mendelian forms of Alzheimer's disease (AD) is the ε4 allele of the apolipoprotein E gene (APOE). Recently, it has been reported that the P86L polymorphism of the calcium homeostasis modulator 1 gene (CALHM1) is associated with the risk of developing AD. In order to independently assess this association, we performed a meta-analysis of 7,873 AD cases and 13,274 controls of Caucasian origin (from a total of 24 centers in Belgium, Finland, France, Italy, Spain, Sweden, the UK, and the USA). Our results indicate that the CALHM1 P86L polymorphism is likely not a genetic determinant of AD but may modulate age of onset by interacting with the effect of the ε4 allele of the APOE gene.
摘要
唯一已确定的非孟德尔形式阿尔茨海默病（AD）的遗传决定因素是载脂蛋白 E 基因（APOE）的 ε4 等位基因。最近，有报道称钙稳态调节剂 1 基因（CALHM1）的 P86L 多态性与 AD 发病风险相关。为了独立评估这种关联，我们对来自比利时、芬兰、法国、意大利、西班牙、瑞典、英国和美国的 24 个中心的 7873 例 AD 病例和 13274 例对照进行了荟萃分析。我们的结果表明，CALHM1 P86L 多态性可能不是 AD 的遗传决定因素，但可能通过与 APOE 基因的 ε4 等位基因的作用相互作用来调节发病年龄。
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