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The 1239G/C polymorphism in exon 5 of BACE1 gene may be associated with sporadic Alzheimer's disease in Chinese Hans
Author(s) -
Shi Jiajun,
Zhang Sizhong,
Tang Mouni,
Liu Xiehe,
Li Tao,
Wang Yingcheng,
Han Haiying,
Guo Yangbo,
Hao Yuantao,
Zheng Keqin,
Kong Xiangdong,
Su Zhiguang,
Tong Yu,
Ma Cui
Publication year - 2003
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.20087
Subject(s) - exon , genetics , disease , polymorphism (computer science) , gene , biology , medicine , genotype
Abstract Beta‐site amyloid‐precursor protein cleaving enzyme (BACE1) is a candidate risk factor for Alzheimer's disease (AD) because of involving in generating β‐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 APOEε4 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, χ 2 = 5.20, P = 0.02; Chengdu, 0.74 vs. 0.65, χ 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 ε4 allele carriers when all subjects were divided on the basis of the APOEε4 status. Our findings suggest that the 1239G/C polymorphism in exon 5 of BACE1 gene may be associated with sporadic AD in Chinese Hans. © 2003 Wiley‐Liss, Inc.