A novel signal on chromosome 20 (rs72448466, intronic in ZGPAT), which showed association with FVC almost as strong as its association with FEV1, is an eQTL for the telomere gene, RTEL1. Although rs72448466:->GT was not the strongest eQTL for RTEL1 (r2=0.6 with the top eQTL variant), RTEL1 is of interest as it has recently been implicated in familial pulmonary fibrosis40. Variant rs72448466 has also been associated with inflammatory bowel disease, prostate cancer and atopic dermatitis.
