Association between promoter polymorphisms of a disintegrin and metalloproteinase 10 gene and sporadic Alzheimer's disease
10.3760/cma.j.issn.1006-7876.2012.05.002
- VernacularTitle:去整合蛋白和金属蛋白酶10基因启动子区多态性与散发性阿尔茨海默病的关系
- Author:
Yan LIU
;
Xiumei ZUO
;
Jianping JIA
- Publication Type:Journal Article
- Keywords:
Alzheimer disease;
Membrane proteins;
ADAM proteins;
Amyloid precursor protein secretases;
Promoter regions (genetics);
Polymorphism,genetic
- From:
Chinese Journal of Neurology
2012;45(5):292-296
- CountryChina
- Language:Chinese
-
Abstract:
ObjectiveTo investigate the relationship between the polymorphisms of the promoter of a disintegrin and metalloproteinase 10(ADAM10) gene and sporadic Alzheimer's disease (SAD).Methods The promoter of ADAM10 gene in 10 controls and 10 SAD patients was sequenced.Three variations were found,then these variations in 298 SAD patients (SAD group) and 315 healthy controls (control group)were genotyped by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).ResultsThree polymorphisms were found in the promoter of ADAM10 gene: -279G/A (rs653765),- 630G/T( rs514049 ) and - 921GAGA/- ( rs33926666 ).For - 921GAGA/-,there were significant differences in genotype ( GAGA/GAGA:138 (46.3％ ),GAGA/-:155(52.0％),-/-:5(1.7％))and allele frequencies (GAGA:431 (73.6％),-:165 (27.7％) ) between SAD and control (genotype:x2 =34.130,P =0.000; allele:x2 =25.972,P =0.000). For - 279G/A,there were significant differences in genotype and allele frequencies between SAD and control in the subjects without ApoEε4 allele (genotype:x2 =8.734,P=0.013; allele:x2 =5.129,P=0.024). -279G and -921GAGA were relatively protective allele types for SAD,and they were not in linkage disequilibrium.ConclusionThe polymorphisms - 279G/A and - 921GAGA/- of ADAM10 are associated with SAD.Allele G or genotype G/G of -279G/A and the GAGA/GAGA genotype or the GAGA allele of -921GAGA/- might have a protective effect on SAD.
