Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies

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• 作者：Roby Joehanes ; Xiaoling Zhang ; Tianxiao Huan ; Chen Yao ; Sai-xia Ying…
• 刊名：Genome Biology
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：18
• 期：1
• 全文大小：1412KB
• 刊物主题：Animal Genetics and Genomics; Human Genetics; Plant Genetics & Genomics; Microbial Genetics and Genomics; Bioinformatics; Evolutionary Biology;
• 出版者：BioMed Central
• ISSN：1474-760X
• 卷排序：18

文摘

BackgroundIdentification of single nucleotide polymorphisms (SNPs) associated with gene expression levels, known as expression quantitative trait loci (eQTLs), may improve understanding of the functional role of phenotype-associated SNPs in genome-wide association studies (GWAS). The small sample sizes of some previous eQTL studies have limited their statistical power. We conducted an eQTL investigation of microarray-based gene and exon expression levels in whole blood in a cohort of 5257 individuals, exceeding the single cohort size of previous studies by more than a factor of 2.