학술논문
Variations in the APPgene promoter region and risk of Alzheimer disease
Document Type
Article
Author
Source
Neurology (Ovid); February 2007, Vol. 68 Issue: 9 p684-687, 4p
Subject
Language
ISSN
00283878; 1526632X
Abstract
We genotyped five polymorphisms, including two polymorphisms with known effects on transcriptional activity, in a large cohort of 427 Alzheimer disease (AD) cases and 472 control subjects. An association between rs463946 (−3102 G/C) and AD was found and was confirmed in a replication sample of a similar size. By contrast, analysis of three recently described rare mutations influencing APPtranscription did not confirm their association with AD risk.