Kidney compartment specific eQTL studies highlight causal genes and pathways for renal disease development

Expression quantitative trait loci (eQTL) analyses were conducted separately on the glomerular and tubular portions of healthy human kidney samples obtained from subjects of European descent. We aimed to define genotype driven gene expression changes in the glomerular and tubular compartments of human kidneys, identifying genetic variants (eVariants) that influence the expression of genes (eGenes). Later, we integrated this information with genotype and phenotype association studies (GWAS) to identify genes for which expression in the kidney shows differences in patients with GWAS variants.本研究针对欧洲血统受试者获取的健康人类肾脏样本的肾小球与肾小管部分，分别开展了表达数量性状基因座（expression quantitative trait loci, eQTL）分析。本研究旨在明确人类肾脏肾小球与肾小管分区中由基因型驱动的基因表达变化，筛选出影响基因（eGenes）表达的遗传变异体（eVariants）。后续，我们将上述分析结果与基因型-表型关联研究（全基因组关联研究，Genome-Wide Association Studies, GWAS）进行整合，以鉴定肾脏组织中表达水平在携带GWAS变异的患者中存在差异的基因。