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Disease Markers
Volume 27 (2009), Issue 5, Pages 211-215
http://dx.doi.org/10.3233/DMA-2009-0665

Endothelin-Converting Enzyme-1 Promoter Polymorphisms and Susceptibility to Sporadic Late-Onset Alzheimer's Disease in a Chinese Population

Zhao Jin,1,3 Chi Luxiang,2 Zhou Huadong,1 Wang Yanjiang,1 Xu Zhiqiang,1 Cao Hongyuan,1 Huang Lihua,1 and Yi Xu1

1Department of Neurology, Daping Hospital, Third Military Medical University, Chongqing 400042, China
2Department of Cardiology, Southwest Hospital, Third Military Medical University, Chongqing 400038, China
3Department of Haematology, Daping Hospital, Third Military Medical University, Chongqing 400042, China

Received 18 December 2009; Accepted 18 December 2009

Copyright © 2009 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Endothelin converting enzyme (ECE-1) is a candidate Alzheimer disease susceptibility gene. It was previously reported that western individuals homozygous for the C-338A polymorphism (AA) within the ECE1 gene promoter region are at reduced risk of developing late onset Alzheimer disease (LOAD). A further polymorphism, T-839G, is present within the ECE1 promoter region but a potential association with LOAD has not been studied. We therefore studied possible associations between these ECE1 polymorphisms and LOAD in a Chinese population. Subjects comprised 376 Chinese LOAD patients and 376 age- and sex-matched controls; all subjects were typed for the ECE1 C-338A and the T-839G polymorphisms. We report that the frequency of the 338A allele was decreased in LOAD patients compared to controls (adjusted OR =0.73; 95% CI=0.54–0.98; P=0.03). There was no significant association between T-839G genotype and LOAD, however the combined 839T/338A haplotype was significantly associated with decreased risk of LOAD (OR=0.73; 95% CI=0.57–0.93; P=0.01). This study argues that the ECE1 338A allele is protective against LOAD in a Chinese population.