title: Endothelin-converting enzyme-1 promoter polymorphisms and susceptibility to sporadic late-onset Alzheimer's disease in a Chinese population.
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.
authors.affiliation: Department of Neurology, Daping Hospital, Third Military Medical University, Chongqing, China. zhaojin78@126.com
authors.forename: Zhao
authors.initials: Z
authors.lastname: Jin
authors.forename: Chi
authors.initials: C
authors.lastname: Luxiang
authors.forename: Zhou
authors.initials: Z
authors.lastname: Huadong
authors.forename: Wang
authors.initials: W
authors.lastname: Yanjiang
authors.forename: Xu
authors.initials: X
authors.lastname: Zhiqiang
authors.forename: Cao
authors.initials: C
authors.lastname: Hongyuan
authors.forename: Huang
authors.initials: H
authors.lastname: Lihua
authors.forename: Yi
authors.initials: Y
authors.lastname: Xu
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000201:enzymology / Q000235:genetics*; D016282:Aspartic Acid Endopeptidases / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D000072396:Endothelin-Converting Enzymes; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008666:Metalloendopeptidases / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic
chemical_list: D016282:Aspartic Acid Endopeptidases; D008666:Metalloendopeptidases; C000606923:ECE1 protein, human; D000072396:Endothelin-Converting Enzymes