Genes, Telomeres, Allergies and Biomarkers, Key Pathogenic Clues of Chronic Respiratory Diseases

Abstract

The first contribution of this new issue introduces a fascinating review of the role of genetics in individual susceptibility to chronic obstructive pulmonary disease (COPD) masterly written by Sarah L O’Beirne and Ronald G Crystal, from the prestigious Department of Genetic Medicine and Division of Pulmonary and Critical Care Medicine, Weill Cornell Medical College, New York. Under the senior authorship of Ron Crystal, a legend in respiratory research since the nineteen seventies1, this paper focuses on the complex genetic architecture in COPD resulting from multifaceted interactions between environmental exposures, genetic susceptibility and gene-by-environment interactions. Although the most important risk factor for the development of COPD continues to be long-term cigarette smoking, environmental factors cannot be ignored. Only 15-20% of ever smokers develop COPD and not all of the patients with COPD have a history of tobacco smoking, which points to an individual susceptibility to environmental stress and/or factors independent of environment exposures, including genetic susceptibility and gene-by-environment interactions. All in all this backdrop contributes to disease development along with the familial aggregation observed in COPD and in monogenetic conditions, such as alpha-1 antitrypsin deficiency, hence supporting a role for genetic susceptibility in disease pathogenesis. Within this context, key issues such as exome sequencing, expression quantitative trait loci, genome-wide association study (GWAS) and single nucleotide polymorphism (SNP), along with epigenetic and integrative approaches, are attractively exposed to provide a more thorough picture of COPD hereditability.