Association analysis between Alzheimer's disease and the promoter polymorphism of PSEN2 gene
- VernacularTitle:PSEN2基因启动子多态性与阿尔茨海默病易患性的关联研究
- Author:
Zheng LIU
;
Jian-Ping JIA
;
- Publication Type:Journal Article
- Keywords:
Alzheimer disease;
Membrane proteins;
Promoter regions (genetics);
Polymerase chain reaction;
Polymorphism(genetics)
- From:
Chinese Journal of Neurology
2001;0(01):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective Alzheimer's disease (AD) is the most common neurodegenerative disorder of aging.Identifying novel AD genetic risk factors is important for understanding its pathogenesis.Presenilin- 2 (PSEN2) is one of the causative genes for familial AD.Polymorphism of the promoter region of PSEN2 has recently been reported to be associated with sporadic AD in a Russian population.The purpose of this study was to determine whether AD is associated with the PSEN2 gene polymorphism in a case-control study.Methods We examined PSEN2 and ApoE genotypes of 160 patients with AD and an equal number of age- and sex-matched controls from the same community by using PCR-RFLP method.Statistical analyses included a Chi-square test for homogeneity and a Logistic regression analysis.Results Examination of PSEN2 genotypes revealed no statistically significant differences in the frequency of the+A/-A polymorphism when compared with the total sample of AD patients and control individuals (P=0.11). However,subgroup of ApoE 84 non-carriers suggested significant differences of the three genotypes of PSEN2 promoter between AD and controls (P=0.038).Logistic analyses indicated ApoE genotypes were related with AD,and after stratification by e4 allele,PSEN2 genotypes were related with AD of e4 non-carriers.In addition,there was no interaction between ApoE and PSEN2 gene.Conclusion The+A/-A polymorphism of PSEN2 promoter may be a minor genetic risk factor for sporadic AD,especially in the group of AD without ApoE ?4 allele.
