Department of Neurology, Xuan Wu Hospital, Capital Medical University, 45 Changchun Street, Xuanwu District, Beijing 100053, China.
J Clin Neurosci. 2010 Oct;17(10):1276-9. doi: 10.1016/j.jocn.2010.01.008. Epub 2010 Jun 3.
The deposition of amyloid beta peptides (Abeta) in the brain is crucial in the pathogenesis of Alzheimer's disease (AD). A disintegrin and metalloproteinase (ADAM) 17 cleaves the amyloid precursor protein (APP) within the Abeta sequence and, therefore, precludes the formation of neurotoxic Abeta. To explore the correlation between the ADAM17 promoter and sporadic AD (SAD), a case-control study was conducted in a Northern Chinese Han population. The ADAM17 gene promoter region was screened, resulting in five known and one novel single nucleotide polymorphisms (SNP): -1672C/T (rs11689958), -1638T/G (rs1524668), -1437T/C (rs11684747), -1333C/T (rs12474969), -172T/C (rs12692386) and -154C/A. Using direct sequencing, genotypes were determined in 403 patients who had SAD and 323 control participants. No association was observed between these polymorphisms and SAD. These data indicated that, in a Northern Chinese Han population, SNP in the ADAM17 promoter do not influence the risk of SAD.
淀粉样β肽 (Abeta) 在大脑中的沉积在阿尔茨海默病 (AD) 的发病机制中至关重要。解整合素金属蛋白酶 17 (ADAM17) 在 Abeta 序列内切割淀粉样前体蛋白 (APP)，从而阻止神经毒性 Abeta 的形成。为了探讨 ADAM17 启动子与散发性 AD (SAD) 之间的相关性，在中国北方汉族人群中进行了病例对照研究。筛选了 ADAM17 基因启动子区域，发现了五个已知和一个新的单核苷酸多态性 (SNP)：-1672C/T(rs11689958)、-1638T/G(rs1524668)、-1437T/C(rs11684747)、-1333C/T(rs12474969)、-172T/C(rs12692386)和-154C/A。通过直接测序，在 403 名患有 SAD 的患者和 323 名对照参与者中确定了基因型。这些多态性与 SAD 之间没有观察到关联。这些数据表明，在中国北方汉族人群中，ADAM17 启动子中的 SNP 不影响 SAD 的风险。
