Pathogenesis of chronic obstructive pulmonary disease: understanding the contributions of gene–environment interactions across the lifespan

A Agustí, E Melén, DL DeMeo… - The Lancet …, 2022 - thelancet.com
The traditional view of chronic obstructive pulmonary disease (COPD) as a self-inflicted
disease caused by tobacco smoking in genetically susceptible individuals has been …

Genetics of chronic respiratory disease

I Sayers, C John, J Chen, IP Hall - Nature Reviews Genetics, 2024 - nature.com
Chronic respiratory diseases, such as chronic obstructive pulmonary disease (COPD),
asthma and interstitial lung diseases are frequently occurring disorders with a polygenic …

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

N Shrine, AG Izquierdo, J Chen, R Packer, RJ Hall… - Nature …, 2023 - nature.com
Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and
predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of …

Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes

JD McKay, RJ Hung, Y Han, X Zong… - Nature …, 2017 - nature.com
Although several lung cancer susceptibility loci have been identified, much of the heritability
for lung cancer remains unexplained. Here 14,803 cases and 12,262 controls of European …

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries

N Shrine, AL Guyatt, AM Erzurumluoglu, VE Jackson… - Nature …, 2019 - nature.com
Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive
pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of …

Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations

P Sakornsakolpat, D Prokopenko, M Lamontagne… - Nature …, 2019 - nature.com
Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality
worldwide. Genetic risk loci provide new insights into disease pathogenesis. We performed …

Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis

BD Hobbs, K De Jong, M Lamontagne, Y Bossé… - Nature …, 2017 - nature.com
Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality worldwide.
We performed a genetic association study in 15,256 cases and 47,936 controls, with …

[HTML][HTML] Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in …

LV Wain, N Shrine, S Miller, VE Jackson… - The Lancet …, 2015 - thelancet.com
Background Understanding the genetic basis of airflow obstruction and smoking behaviour
is key to determining the pathophysiology of chronic obstructive pulmonary disease (COPD) …

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets

LV Wain, N Shrine, MS Artigas, AM Erzurumluoglu… - Nature …, 2017 - nature.com
Chronic obstructive pulmonary disease (COPD) is characterized by reduced lung function
and is the third leading cause of death globally. Through genome-wide association …

Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel

M Mitt, M Kals, K Pärn, SB Gabriel, ES Lander… - European Journal of …, 2017 - nature.com
Genetic imputation is a cost-efficient way to improve the power and resolution of genome-
wide association (GWA) studies. Current publicly accessible imputation reference panels …