paperKB
coga / coga-kb
Help
Sign in

Chunk #52 — Online Methods — Implication of causal genes

Source
Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.
Embedded
yes

Text

At each signal, the sentinel SNP and top proxies with r2>0.4 and within 2Mb, no limit on number of proxies, were used to query 3 eQTL resources; lung eQTL23,24,59, blood eQTL60 and GTEx61 (artery (aorta and tibia), adrenal gland, colon sigmoid, esophagus (gastroesophageal junction and mucosa), transformed fibroblasts, lung, spleen, skin (sun exposed lower leg), stomach, testis, thyroid, whole blood). A False Discovery Rate (FDR) of 10% was used as a threshold for significance in the lung and blood eQTL datasets and 5% in GTEx (due to large number of different tissues and cells, and small sample size). A gene was classified as a potential causal gene if the sentinel SNP or proxy (r2>0.4) showed significant evidence of being an eQTL signal for that gene. Genes were further classified as high-priority genes if the variant most strongly associated with the lung function traits (or a proxy with r2>0.9) was also the variant most strongly associated with expression of the gene in one or more of the eQTL datasets (i.e. there was co-localisation of the lung function associated SNP and the