意大利散发性和家族性阿尔茨海默病中的α2-巨球蛋白多态性

Alpha2-macroglobulin polymorphisms in Italian sporadic and familial Alzheimer's disease.

作者信息

Nacmias B, Tedde A, Cellini E, Forleo P, Orlacchio A, Guarnieri B M, Petruzzi C, D'Andrea F, Serio A, Sorbi S

机构信息

Department of Neurological and Psychiatric Sciences, University of Florence, Viale Morgagni 85, 50134 Florence, Italy.

出版信息

Neurosci Lett. 2001 Feb 16;299(1-2):9-12. doi: 10.1016/s0304-3940(00)01758-4.

DOI:10.1016/s0304-3940(00)01758-4

PMID:11166925

Abstract

A 5-bp deletion and a Val1000 polymorphism at the alpha(2)-macroglobulin (A2M) gene have recently been reported to be associated with late onset Alzheimer's disease (AD). As recently it has been suggested that the effect of the A2M gene on AD susceptibility may be limited to certain populations or families, we analyzed the segregation of A2M and apolipoprotein E polymorphisms in Italian sporadic and familial AD. We analyzed the two polymorphisms in a total of 346 subjects including 98 controls by polymerase chain reaction-restriction fragment length polymorphism method. Our data do not confirm these associations, in particular we found a significant decrease of the deletion allele in AD with respect to controls. Our data do not support a role for the A2M gene as genetic risk factor for AD.

摘要

最近有报道称，α2-巨球蛋白（A2M）基因上的一个5碱基对缺失和一个Val1000多态性与晚发性阿尔茨海默病（AD）相关。由于最近有人提出，A2M基因对AD易感性的影响可能仅限于某些人群或家族，我们分析了意大利散发性和家族性AD中A2M和载脂蛋白E多态性的分离情况。我们采用聚合酶链反应-限制性片段长度多态性方法，对总共346名受试者（包括98名对照）中的这两种多态性进行了分析。我们的数据并未证实这些关联，特别是我们发现，与对照组相比，AD患者中缺失等位基因显著减少。我们的数据不支持A2M基因作为AD遗传风险因素的作用。