全基因组关联研究表明12号染色体上存在一个与晚发性阿尔茨海默病相关的风险基因座。

Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.

作者信息

Beecham Gary W, Martin Eden R, Li Yi-Ju, Slifer Michael A, Gilbert John R, Haines Jonathan L, Pericak-Vance Margaret A

机构信息

Miami Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33101, USA.

出版信息

Am J Hum Genet. 2009 Jan;84(1):35-43. doi: 10.1016/j.ajhg.2008.12.008.

Abstract

Only Apolipoprotein E polymorphisms have been consistently associated with the risk of late-onset Alzheimer disease (LOAD), but they represent only a minority of the underlying genetic effect. To identify additional LOAD risk loci, we performed a genome-wide association study (GWAS) on 492 LOAD cases and 498 cognitive controls using Illumina's HumanHap550 beadchip. An additional 238 cases and 220 controls were used as a validation data set for single-nucleotide polymorphisms (SNPs) that met genome-wide significance. To validate additional associated SNPs (p < 0.0001) and nominally associated candidate genes, we imputed SNPs from our GWAS using a previously published LOAD GWAS(1) and the IMPUTE program. Association testing was performed with the Cochran-Armitage trend test and logistic regression, and genome-wide significance was determined with the False Discovery Rate-Beta Uniform Mixture method. Extensive quality-control methods were performed at both the sample and the SNP level. The GWAS confirmed the known APOE association and identified association with a 12q13 locus at genome-wide significance; the 12q13 locus was confirmed in our validation data set. Four additional highly associated signals (1q42, 4q28, 6q14, 19q13) were replicated with the use of the imputed data set, and six candidate genes had SNPs with nominal association in both the GWAS and the joint imputated data set. These results help to further define the genetic architecture of LOAD.

摘要

只有载脂蛋白E基因多态性一直与晚发型阿尔茨海默病(LOAD)的风险相关,但它们仅占潜在遗传效应的一小部分。为了识别其他LOAD风险基因座,我们使用Illumina公司的HumanHap550基因芯片,对492例LOAD患者和498名认知对照进行了全基因组关联研究(GWAS)。另外238例患者和220名对照被用作满足全基因组显著性的单核苷酸多态性(SNP)的验证数据集。为了验证其他相关SNP(p < 0.0001)和名义上相关的候选基因,我们使用先前发表的LOAD GWAS(1)和IMPUTE程序,对我们GWAS中的SNP进行了推算。使用 Cochr an-Armitage趋势检验和逻辑回归进行关联测试,并使用错误发现率-β均匀混合方法确定全基因组显著性。在样本和SNP水平都进行了广泛的质量控制方法。GWAS证实了已知的APOE关联,并在全基因组显著性水平上鉴定出与12q13位点的关联;12q13位点在我们的验证数据集中得到了证实。使用推算数据集复制了另外四个高度相关的信号(1q42、4q28、6q14、19q13),并且六个候选基因在GWAS和联合推算数据集中都有具有名义关联的SNP。这些结果有助于进一步定义LOAD的遗传结构。

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