CALHM1 P86L 常见变异与意大利早发性和晚发性阿尔茨海默病无关。

Lack of implication for CALHM1 P86L common variation in Italian patients with early and late onset Alzheimer's disease.

机构信息

Department of Neurological and Psychiatric Sciences, University of Florence, Firenze, Italy.

出版信息

J Alzheimers Dis. 2010;20(1):37-41. doi: 10.3233/JAD-2010-1345.

DOI:10.3233/JAD-2010-1345

PMID:20164602

Abstract

A recent study identified a polymorphism (Pro86Leu) in the Calcium homeostasis modulator 1 (CALHM1) gene whose minor Leucine allele showed a higher frequency in Alzheimer's disease (AD) patients compared to controls (29% in AD and 22% in controls). Further studies provided conflicting results in different ethnic groups. In order to assess the involvement of the CALHM1 genetic variant on the risk of developing AD, we analyzed the genotype and allele distributions of the Pro86Leu polymorphism in 758 Italian subjects. Our results did not confirm an association between the CALHM1 variation and AD, thus suggesting a genetic heterogeneity among the various populations.

摘要

最近的一项研究确定了钙稳态调节剂 1（CALHM1）基因中的一个多态性（Pro86Leu），其次要的亮氨酸等位基因在阿尔茨海默病（AD）患者中的频率高于对照组（AD 患者中为 29%，对照组中为 22%）。进一步的研究在不同的种族群体中提供了相互矛盾的结果。为了评估 CALHM1 基因变异与 AD 发病风险的关系，我们分析了 758 名意大利受试者中 Pro86Leu 多态性的基因型和等位基因分布。我们的结果没有证实 CALHM1 变异与 AD 之间存在关联，因此表明不同人群之间存在遗传异质性。