Murphy T, Yip A, Brayne C, Easton D, Evans J G, Xuereb J, Cairns N, Esiri M M, Rubinsztein D C
Department of Medical Genetics, Wellcome Trust Centre for Molecular Mechanisms in Disease, Cambridge Institute for Medical Research, UK.
Neuroreport. 2001 Mar 5;12(3):631-4. doi: 10.1097/00001756-200103050-00040.
Alzheimer's disease (AD) pathology is characterized by beta-amyloid plaques and neurofibrillary tangles. Studies of autosomal dominant early-onset AD mutations suggest that beta-amyloid overproduction is sufficient to cause AD. Recently, the BACE gene, which encodes beta-secretase, the rate limiting enzyme in beta-amyloid formation, has been identified. Since this gene is a strong candidate gene for late-onset AD because of its function, we have characterized its genomic organization and identified two polymorphisms. Neither of these polymorphisms were associated with AD risk in genetic association studies comparing autopsy-confirmed late-onset AD cases and age-matched non-demented controls. Thus, we find no evidence that this locus influences risk for late-onset AD.
阿尔茨海默病（AD）的病理特征是β-淀粉样蛋白斑块和神经纤维缠结。对常染色体显性早发性AD突变的研究表明，β-淀粉样蛋白产生过多足以导致AD。最近，已鉴定出编码β-分泌酶（β-淀粉样蛋白形成中的限速酶）的BACE基因。由于该基因的功能，它是晚发性AD的一个强有力的候选基因，我们已经对其基因组结构进行了表征并鉴定出两种多态性。在比较经尸检确诊的晚发性AD病例和年龄匹配的非痴呆对照的遗传关联研究中，这些多态性均与AD风险无关。因此，我们没有发现该基因座影响晚发性AD风险的证据。
