SORL1基因变异与晚发型阿尔茨海默病风险
SORL1 variants and risk of late-onset Alzheimer's disease.
作者信息
Li Yonghong, Rowland Charles, Catanese Joseph, Morris John, Lovestone Simon, O'Donovan Michael C, Goate Alison, Owen Michael, Williams Julie, Grupe Andrew
机构信息
Celera, 1401 Harbor Bay Parkway, Alameda, CA, USA.
出版信息
Neurobiol Dis. 2008 Feb;29(2):293-6. doi: 10.1016/j.nbd.2007.09.001. Epub 2007 Sep 16.
A recent study reported significant association of late-onset Alzheimer's disease (LOAD) with multiple single nucleotide polymorphisms (SNPs) and haplotypes in SORL1, a neuronal sortilin-related receptor protein known to be involved in the trafficking and processing of amyloid precursor protein. Here we attempted to validate this finding in three large, well characterized case-control series. Approximately 2000 samples from the three series were individually genotyped for 12 SNPs, including the 10 reported significant SNPs and 2 that constitute the reported significant haplotypes. A total of 25 allelic and haplotypic association tests were performed. One SNP rs2070045 was marginally replicated in the three sample sets combined (nominal P=0.035); however, this result does not remain significant when accounting for multiple comparisons. Further validation in other sample sets will be required to assess the true effects of SORL1 variants in LOAD.
最近一项研究报告称,迟发性阿尔茨海默病(LOAD)与SORL1基因中的多个单核苷酸多态性(SNP)和单倍型存在显著关联。SORL1是一种神经元sortilin相关受体蛋白,已知其参与淀粉样前体蛋白的运输和加工。在此,我们试图在三个大型、特征明确的病例对照系列中验证这一发现。对这三个系列中约2000个样本分别进行了12个SNP的基因分型,包括10个已报道的显著SNP和2个构成已报道显著单倍型的SNP。总共进行了25次等位基因和单倍型关联测试。一个SNP rs2070045在合并的三个样本集中得到了微弱的重复验证(名义P = 0.035);然而,在考虑多重比较时,这一结果不再显著。需要在其他样本集中进行进一步验证,以评估SORL1变体在LOAD中的真实作用。