Department of Biochemistry, Li Ka Shing Faculty of Medicine, the University of Hong Kong, Hong Kong, People's Republic of China.
Neurobiol Aging. 2012 Jan;33(1):210.e1-7. doi: 10.1016/j.neurobiolaging.2011.09.016. Epub 2011 Oct 19.
In this case-controlled study, we tested susceptible genetic variants for Alzheimer's disease (AD) in CR1, CLU and PICALM from genome-wide association studies (GWAS) in a southern Chinese population. Eight hundred twelve participants consisting of 462 late-onset Alzheimer's disease (LOAD) patients and 350 nondemented control subjects were recruited. We found by multivariate logistic regression analysis, that single nucleotide polymorphisms (SNPs) in CR1 (rs6656401 adjusted allelic p = 0.035; adjusted genotypic p = 0.043) and CLU (rs2279590 adjusted allelic p = 0.035; adjusted genotypic p = 0.006; rs11136000 adjusted allelic p = 0.038; adjusted genotypic p = 0.009) were significantly different between LOAD patients and nondemented controls. For PICALM, LOAD association was found only in the APOE ε4 (-) subgroup (rs3851179 adjusted allelic p = 0.028; adjusted genotypic p = 0.013). Our findings showed evidence of CR1, CLU, and PICALM and LOAD susceptibility in an independent southern Chinese population, which provides additional evidence for LOAD association apart from prior genome-wide association studies in Caucasian populations.
在这项病例对照研究中，我们在一个中国南方人群的全基因组关联研究（GWAS）中测试了 CR1、CLU 和 PICALM 中易患阿尔茨海默病（AD）的易感遗传变异。共招募了 812 名参与者，包括 462 名迟发性阿尔茨海默病（LOAD）患者和 350 名非痴呆对照。通过多变量逻辑回归分析，我们发现 CR1（rs6656401 调整后的等位基因 p=0.035；调整后的基因型 p=0.043）和 CLU（rs2279590 调整后的等位基因 p=0.035；调整后的基因型 p=0.006；rs11136000 调整后的等位基因 p=0.038；调整后的基因型 p=0.009）中的单核苷酸多态性（SNP）在 LOAD 患者和非痴呆对照之间存在显著差异。对于 PICALM，仅在 APOE ε4（-）亚组中发现 LOAD 相关性（rs3851179 调整后的等位基因 p=0.028；调整后的基因型 p=0.013）。我们的研究结果表明 CR1、CLU 和 PICALM 与 LOAD 易感性在独立的中国南方人群中存在相关性，这为除了之前在白种人群中的全基因组关联研究之外，提供了 LOAD 相关性的额外证据。
