Genética Molecular, Hospital Universitario Central Asturias, Oviedo, Spain.
Brain Res. 2011 Apr 6;1383:252-6. doi: 10.1016/j.brainres.2011.01.054. Epub 2011 Jan 27.
A recent genome-wide association study (GWA) reported a significant association between single nucleotide polymorphisms (SNPs) at the PCDH11X gene and late-onset Alzheimer's disease (LOAD). Our research was designated to replicate this association, including non previously analyzed PCDH11X and PCDH11Y SNPs. We genotyped four PCDH11X and one PCDH11Y SNPs in a total of 420 LOAD patients and 350 healthy controls from Spain. Allele and genotype frequencies did not differ between patients and controls for the five SNPs, even after correcting by gender, age, and APOE-ε4 status. Our data were in agreement with recent reports that failed to confirm the association between PCDH11X polymorphisms and LOAD, and extended the lack of association to common PCDH11Y variants.
最近的全基因组关联研究（GWA）报道了 PCDH11X 基因中单核苷酸多态性（SNP）与晚发性阿尔茨海默病（LOAD）之间的显著关联。我们的研究旨在复制这种关联，包括之前未分析的 PCDH11X 和 PCDH11Y SNP。我们在西班牙共对 420 名 LOAD 患者和 350 名健康对照者进行了四个 PCDH11X 和一个 PCDH11Y SNP 的基因分型。在考虑了性别、年龄和 APOE-ε4 状态后，五个 SNP 的等位基因和基因型频率在患者和对照组之间没有差异。我们的数据与最近的报道一致，这些报道未能证实 PCDH11X 多态性与 LOAD 之间的关联，并将缺乏关联扩展到常见的 PCDH11Y 变体。
