Progress in disease progression genetics: dissecting the genetic origins of lung function decline in COPD

Lung function is a heritable trait. Heritability estimates posit that approximately30%–50% of the phenotypic variation in FEV1 is explained by genetics,1–3 and genome-wide association studies (GWAS) of lung function4–11 have discovered multiple genetic variants that are associated with cross-sectional measurements in adults of FEV1, FVC and FEV1/FVC ratio at genome-wide significance levels. Many of these same loci have also been implicated in GWAS of COPD. Additional work is required to link these loci to pathophysiology. Functional studies on GWAS loci involving HHIP,12 13 FAM13A,14 HTR4,15 AGER16 and IREB217 have already provided important insights into the biological mechanisms for genetic determinants of COPD and/or lung function. Longitudinal change in lung function (FEV1, FEV1/FVC) is also heritable,
Source: Thorax - Category: Respiratory Medicine Authors: Tags: Editorials Source Type: research