title: The 1239G/C polymorphism in exon 5 of BACE1 gene may be associated with sporadic Alzheimer's disease in Chinese Hans.
abstract: Beta-site amyloid-precursor protein cleaving enzyme (BACE1) is a candidate risk factor for Alzheimer's disease (AD) because of involving in generating beta-amyloid peptide, which is thought to play a central role in the pathogenesis of the disease. A single nucleotide polymorphism 1239G/C in exon 5 of BACE1 gene and a weak association between this polymorphism and AD in Caucasian APOEepsilon4 allele carriers has been reported. To examine possible association of the polymorphism with sporadic AD, two Chinese Han cohorts including 257 patients and 242 age-matched controls in Guangzhou and 112 patients and 113 controls in Chengdu were genotyped using PCR-RFLP techniques. The frequency of the C allele in controls of both cohorts was 0.65, which was higher than that in Caucasian populations [0.39 by Nowotny et al. 2001: Neuroport 12:1799-1802; 0.44 by Nicolaou et al. 2001: Neurogenetics 3:203-206]. There was a significant excess of C allele among the patients in both cohorts (Guangzhou, 0.71 vs. 0.65, chi(2) = 5.20, P = 0.02; Chengdu, 0.74 vs. 0.65, chi(2) = 4.36, P = 0.04). The CC genotype was found to be associated with AD (Guangzhou cohort, OR = 1.56, 95% CI = 1.09-2.23; Chengdu cohort, OR = 1.74, 95% CI = 1.03-2.95; combined sample: OR = 1.61, 95% CI = 1.20-2.17). The association remained in non-APOE epsilon4 allele carriers when all subjects were divided on the basis of the APOEepsilon4 status. Our findings suggest that the 1239G/C polymorphism in exon 5 of BACE1 gene may be associated with sporadic AD in Chinese Hans.
authors.affiliation: Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan, and Division of Human Morbid Genomics, Key Laboratory of Biotherapy of Human Diseases, Ministry of Education, China.
authors.forename: Jiajun
authors.initials: J
authors.lastname: Shi
authors.forename: Sizhong
authors.initials: S
authors.lastname: Zhang
authors.forename: Mouni
authors.initials: M
authors.lastname: Tang
authors.forename: Xiehe
authors.initials: X
authors.lastname: Liu
authors.forename: Tao
authors.initials: T
authors.lastname: Li
authors.forename: Yingcheng
authors.initials: Y
authors.lastname: Wang
authors.forename: Haiying
authors.initials: H
authors.lastname: Han
authors.forename: Yangbo
authors.initials: Y
authors.lastname: Guo
authors.forename: Yuantao
authors.initials: Y
authors.lastname: Hao
authors.forename: Keqin
authors.initials: K
authors.lastname: Zheng
authors.forename: Xiangdong
authors.initials: X
authors.lastname: Kong
authors.forename: Zhiguang
authors.initials: Z
authors.lastname: Su
authors.forename: Yu
authors.initials: Y
authors.lastname: Tong
authors.forename: Cui
authors.initials: C
authors.lastname: Ma
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D053829:Amyloid Precursor Protein Secretases; D001057:Apolipoproteins E / Q000235:genetics; D016282:Aspartic Acid Endopeptidases / Q000235:genetics*; D002681:China; D015331:Cohort Studies; D005091:Exons / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D001057:Apolipoproteins E; D053829:Amyloid Precursor Protein Secretases; D016282:Aspartic Acid Endopeptidases