脑啡肽酶
单核苷酸多态性
阿尔茨海默病
连锁不平衡
SNP公司
等位基因
基因型
内科学
遗传关联
生物
疾病
遗传学
内分泌学
医学
基因
酶
生物化学
作者
Linda Wood,Eve H. Pickering,Duncan P. McHale,Bryan Dechairo
标识
DOI:10.1016/j.neulet.2007.09.019
摘要
The deposition of amyloid beta peptide (Abeta) in the form of plaques in the brain is a hallmark of Alzheimer's disease (AD). Neprilysin is the major Abeta-degradating enzyme and reduction in neprilysin activity could contribute to Alzheimer's by increasing the steady-state level of Abeta. To provide further evidence for the role of neprilysin in AD we genotyped 22 polymorphisms, 21 SNPs and the GT repeat in the promoter region, across the neprilysin gene in 298 Caucasian sporadic Alzheimer's patients and 298 age-matched controls. Several SNPs showed genotypic and allelic association to AD. SNP rs1836915, in linkage disequilibrium block 2, showed the greatest extent of genotypic association with AD (p=0.0076). We were unable to replicate any of the SNPs that were previously reported as putatively associated with AD. However, these novel findings add to the weight of evidence supporting the involvement of neprilysin in the aetiology of Alzheimer's disease.
科研通智能强力驱动
Strongly Powered by AbleSci AI