Heritability of Chronic Obstructive Pulmonary Disease and Related Phenotypes in Smokers

• DOI: 10.1164/rccm.201302-0263oc
• Publication Date: 2013-08-23T19:15:29Z
• Authors: Jin J. Zhou; Michael H. Cho; Peter J. Castaldi; Craig P. Hersh; Edwin K. Silverman; Nan M. Laird
• Keywords: Genetic Association; Genome-wide Association Study

Previous studies of chronic obstructive pulmonary disease (COPD) have suggested that genetic factors play an important role in the development disease. However, single-nucleotide polymorphisms are associated with COPD genome-wide association been shown to account for only a small percentage variance phenotypes COPD, such as spirometry and imaging variables. These highly predictive disease, family spirometric heritable.To assess heritability coheritability four major COPD-related (measurements FEV1, FEV1/FVC, percent emphysema, gas trapping), affection status smokers non-Hispanic white African American descent using population design.Single-nucleotide from chips were used calculate relatedness pairs individuals mixed model was adopted estimate covariance.In whites, estimated heritabilities FEV1 FEV1/FVC both about 37%, consistent estimates literature family-based studies. For chest computed tomography scan phenotypes, close 25%. Heritability 37.7% populations.This study suggests large portion risk is yet be discovered gives rationale additional COPD. The (genetic covariance) suggest considerable overlap causal loci.