Nowotny P, Kwon J M, Chakraverty S, Nowotny V, Morris J C, Goate A M
Department of Psychiatry (B8134), Washington University School of Medicine, 660 S. Euclid, St. Louis, MO 63110-1093, USA.
Neuroreport. 2001 Jul 3;12(9):1799-802. doi: 10.1097/00001756-200107030-00008.
The release of amyloid-beta peptide (Abeta) from beta-amyloid precursor protein (APP) requires cleavage by beta- and gamma-secretases. Several groups have identified a candidate for the beta-site APP-cleaving enzyme, BACE1, and its homologue BACE2. We sequenced the genes for BACE1 and BACE2 and found several polymorphisms in both genes. Genotyping a large cohort of AD cases and controls has shown no association between AD and the intronic polymorphism in BACE2 while there was a weak association between the BACE1 polymorphism in exon 5 and AD in those carrying the APOE epsilon4 allele.
从β-淀粉样前体蛋白（APP）释放淀粉样β肽（Aβ）需要β-和γ-分泌酶进行切割。多个研究小组已鉴定出β位点APP切割酶的一个候选物，即β-分泌酶1（BACE1）及其同源物BACE2。我们对BACE1和BACE2的基因进行了测序，发现这两个基因中都存在几种多态性。对大量AD病例和对照进行基因分型显示，BACE2的内含子多态性与AD之间无关联，而在携带APOEε4等位基因的个体中，外显子5中的BACE1多态性与AD之间存在弱关联。
