Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China.
J Alzheimers Dis. 2011;25(1):111-7. doi: 10.3233/JAD-2011-101917.
Alzheimer's disease (AD) is the most common form of senile dementia, and the overall prevalence increases exponentially with age. It is well known that genetic variants may play an important role in the pathogenesis of this disorder. Recently, two independent large-scale genome-wide association studies (GWAS) identified 3 novel single nucleotide polymorphisms (SNPs) (rs11136000 within CLU, rs3851179 within PICALM and rs6656401 within CR1) that are associated with late-onset AD (LOAD), and these results have been replicated by other studies performed in the Caucasian population. Recently, an independent study failed to verify the association for the SNP within CLU in a Han Chinese population, indicating that there may be genetic heterogeneity in this association. In the present study, we studied the SNPs within PICALM and CR1 in 474 sporadic AD patients (SAD) and 591 unrelated age- and sex-matched healthy controls of Han Chinese descent. Our data revealed that the frequencies of both of these SNPs were not significantly difference between the SAD and control groups. Thus, the association between SNPs within PICALM, CR1, and SAD should be studied further in different ethnic groups.
阿尔茨海默病（AD）是最常见的老年痴呆症形式，其总体患病率随年龄呈指数增长。众所周知，遗传变异可能在这种疾病的发病机制中起重要作用。最近，两项独立的大规模全基因组关联研究（GWAS）发现了 3 个新的单核苷酸多态性（SNP）（CLU 内的 rs11136000、PICALM 内的 rs3851179 和 CR1 内的 rs6656401）与晚发性 AD（LOAD）相关，这些结果已被其他在白种人群中进行的研究复制。最近，一项独立研究未能在汉族人群中验证 CLU 内 SNP 的相关性，表明这种相关性可能存在遗传异质性。在本研究中，我们研究了 474 例散发性 AD 患者（SAD）和 591 名无血缘关系的年龄和性别匹配的汉族健康对照者中 PICALM 和 CR1 内的 SNPs。我们的数据显示，这两个 SNP 的频率在 SAD 组和对照组之间没有显著差异。因此，应在不同种族群体中进一步研究 PICALM、CR1 内的 SNP 与 SAD 之间的关联。
