title: Genetic studies of A2M and BACE1 genes in Chinese Han Alzheimer's disease patients.
abstract: We investigated insertion (Ins)/deletion(Del) polymorphism in alpha-2-macroglobulin (A2M), G/C variant in the beta-site amyloid precursor protein-cleaving enzyme 1 (BACE1) and apolipoprotein E (APOE) gene epsilon2/epsilon3/epsilon4 polymorphism in 387 Chinese Han ethnic patients with Alzheimer's disease and healthy study participants. After stratification for APOEepsilon4 status, only the BACE1-G allele with APOEepsilon4 was significantly associated with Alzheimer's disease. Through meta-analysis of the Del or G allele by pooling Asian studies, only BACE1-G allele appeared to increase risk of developing Alzheimer's disease. Through combination-analysis of the data about the A2M-I/D and the A2M-Ile1000Val variants, the A2M gene was suggested to be associated with Alzheimer's disease.
authors.affiliation: State Key Lab of Genetic Engineering, Institute of Genetics, School of Life Sciences, Fudan University, Shanghai, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Cai
authors.forename: Guomei
authors.initials: G
authors.lastname: Tang
authors.forename: Lishan
authors.initials: L
authors.lastname: Chen
authors.forename: Bosheng
authors.initials: B
authors.lastname: Zhang
authors.forename: Sanduo
authors.initials: S
authors.lastname: Jiang
authors.forename: Daming
authors.initials: D
authors.lastname: Ren
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000208:ethnology / Q000235:genetics*; D053829:Amyloid Precursor Protein Secretases; D001057:Apolipoproteins E / Q000145:classification / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D016282:Aspartic Acid Endopeptidases / Q000235:genetics*; D016009:Chi-Square Distribution; D002681:China / Q000208:ethnology; D004252:DNA Mutational Analysis; D010450:Endopeptidases; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008297:Male; D015201:Meta-Analysis as Topic; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D014633:Valine / Q000235:genetics; D000511:alpha-Macroglobulins / Q000235:genetics*
chemical_list: D001057:Apolipoproteins E; D000511:alpha-Macroglobulins; D007532:Isoleucine; D053829:Amyloid Precursor Protein Secretases; D010450:Endopeptidases; D016282:Aspartic Acid Endopeptidases; C509280:BACE1 protein, human; D014633:Valine