Open AccessEmerging genetics of COPD
Author(s) -
Berndt Annerose,
Leme Adriana S.,
Shapiro Steven D.
Publication year - 2012
Publication title -
embo molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.923
H-Index - 107
eISSN - 1757-4684
pISSN - 1757-4676
DOI - 10.1002/emmm.201100627
Subject(s) - copd , genome wide association study , pulmonary disease , candidate gene , computational biology , genetic association , genetic variants , pathogenesis , biology , phenotype , genetics , bioinformatics , disease , gene , medicine , single nucleotide polymorphism , immunology , genotype , pathology
Abstract Since the discovery of alpha‐1 antitrypsin in the early 1960s, several new genes have been suggested to play a role in chronic obstructive pulmonary disease (COPD) pathogenesis. Yet, in spite of those advances, much about the genetic basis of COPD still remains to be discovered. Unbiased approaches, such as genome‐wide association (GWA) studies, are critical to identify genes and pathways and to verify suggested genetic variants. Indeed, most of our current understanding about COPD candidate genes originates from GWA studies. Experiments in form of cross‐study replications and advanced meta‐analyses have propelled the field towards unravelling details about COPD's pathogenesis. Here, we review the discovery of genetic variants in association with COPD phenotypes by discussing the available approaches and current findings. Limitations of current studies are considered and future directions provided.