Human Lung Tissue eQTL Study

Genetic risks underlying respiratory diseases (e.g. COPD and asthma) are carefully studied by large genome-wide association studies (GWAS), where many loci were identified. In the post-GWAS era, the main challenge is to find the causal genes and pathways in GWAS-nominated chromosomal regions and to characterize etiology mechanism. The Lung eQTL Consortium is an international effort to systematically capture the genetic architecture of gene expression regulation in human lung. By studying lung specimens from 1,103 individuals of mostly European ancestry, we report a large number of genetic variants affecting gene expression in the lung, or lung expression quantitative trait loci (eQTL). These lung eQTLs will serve as an important resource to aid in the understanding of the molecular underpinnings of lung biology and its disruption in disease.]]>呼吸系统疾病（如慢性阻塞性肺疾病（Chronic Obstructive Pulmonary Disease, COPD）与哮喘）的遗传风险已通过大规模全基因组关联研究（Genome-Wide Association Study, GWAS）得到系统解析，诸多染色体关联位点已被成功鉴定。在后GWAS时代，核心研究挑战在于从GWAS锁定的染色体区域中挖掘致病基因与调控通路，并阐明疾病的病因学机制。肺eQTL联盟（Lung eQTL Consortium）是一项旨在系统性解析人类肺部基因表达调控遗传架构的国际合作项目。本研究通过对1103名主要为欧洲血统个体的肺部组织样本进行分析，鉴定出大量影响肺部基因表达的遗传变异，即肺表达数量性状位点（lung expression Quantitative Trait Loci, eQTL）。这些肺eQTL将成为重要的研究资源，助力解析肺部生物学的分子基础及其在疾病状态下的失调机制。