Applied Chest Imaging Laboratory

Using Integrative Genomics To Identify and Characterize Emphysema-Associated eQTL

Grant Support: NIH/NHLBI R01HL124233

PI: Dr. Peter Castaldi

Project Information:

The goal of this project is to identify genomic regions associated with emphysema susceptibility and to functionally characterize a subset of these regions.  The approach is to combine GWAS and eQTL data to identify a likely set of disease-associated functional variants.  Then, by integrating these data with ENCODE and Roadmap project transcriptional regulatory data, detailed functional hypotheses for emphysema-associated loci are generated and subsequently explored via cell-based assays.

People Involved:

Dr. Peter Castaldi, Dr. George R Washko, Dr. Raúl San José Estépar


Castaldi PJ, Cho MH, Zhou X, Qiu W, McGeachie M, Celli B, Bakke P, Gulsvik A, Lomas DA, Crapo JD, Beaty TH, Rennard S, Harshfield B, Lange C, Singh D, Tal-Singer R, Riley JH, Quackenbush J, Raby BA, Carey VJ, Silverman EK, Hersh CP. Genetic control of gene expression at novel and established chronic obstructive pulmonary disease loci. Hum Mol Genet 2015;24(4):1200-10. Abstract