PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility.
PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility.
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DOI：
10.1097/ypg.0b013e32833b635d
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发表时间：
2010-12
影响因子：
0.9
通讯作者：
Pericak-Vance MA
中科院分区：
文献类型：
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作者：
Beecham GW;Naj AC;Gilbert JR;Haines JL;Buxbaum JD;Pericak-Vance MA
最近的一项全基因组关联研究和随访显示与原钙粘蛋白11x连锁（PCDH11X）基因有显著关联。在7个队列中的5个中显示与4个PCDH11X多态性（rss5984894, rs2573905, rss5941047, rs4568761）有统计学关联。2356例病例和2384例对照的联合分析显示，在rs5984894多态性下，等位基因特异性优势比为1.30 (95% CI, 1.18-1.43)， p值为2.2 × 10-7，相关性最强。我们在两个独立的数据集中测试了这四个snp的关联，然后进行了联合分析。虽然我们有足够的能力通过报道的优势比来检测效应大小，但在我们的889例病例和850例对照的数据集中，我们没有检测到LOAD和PCDH11X多态性之间的关联，这表明PCDH11X的关联，如果不是假阳性，也不像之前假设的那样强烈或普遍。
A recent genome-wide association study and follow-up shows significant association with the protocadherin 11 X-linked (PCDH11X) gene. show statistical association with four PCDH11X polymorphisms (rs5984894, rs2573905, rs5941047, rs4568761) in five of seven cohorts. The combined analysis of 2,356 cases and 2,384 controls showed the strongest association with a p-value of 2.2 × 10-7 with an allele specific odds ratio of 1.30 (95% CI, 1.18–1.43) at the rs5984894 polymorphism. We tested for association at these four SNPs in two independent datasets and then performed a joint analysis. Though we had adequate power to detect effects sizes with the reported odds ratios, we did not detect association between LOAD and the PCDH11X polymorphisms in our dataset of 889 cases and 850 controls, indicating that the PCDH11X association, if not a false positive, is not as strong or generalized as previously hypothesized.