Genetics of chronic obstructive pulmonary disease: understanding the pathobiology and heterogeneity of a complex disorder

MH Cho, BD Hobbs, EK Silverman - The Lancet Respiratory …, 2022 - thelancet.com
Chronic obstructive pulmonary disease (COPD) is a deadly and highly morbid disease.
Susceptibility to and heterogeneity of COPD are incompletely explained by environmental …

Genetics of COPD

EK Silverman - Annual review of physiology, 2020 - annualreviews.org
Although chronic obstructive pulmonary disease (COPD) risk is strongly influenced by
cigarette smoking, genetic factors are also important determinants of COPD. In addition to …

Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

W Zhou, M Kanai, KHH Wu, H Rasheed, K Tsuo… - Cell Genomics, 2022 - cell.com
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …

Race and ethnicity in pulmonary function test interpretation: an official American Thoracic Society statement

NR Bhakta, C Bime, DA Kaminsky… - American journal of …, 2023 - atsjournals.org
Current American Thoracic Society (ATS) standards promote the use of race and ethnicity-
specific reference equations for pulmonary function test (PFT) interpretation. There is rising …

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 …

Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power

EG Atkinson, AX Maihofer, M Kanai, AR Martin… - Nature …, 2021 - nature.com
Admixed populations are routinely excluded from genomic studies due to concerns over
population structure. Here, we present a statistical framework and software package, Tractor …

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 …

Eliciting priors and relaxing the single causal variant assumption in colocalisation analyses

C Wallace - PLoS genetics, 2020 - journals.plos.org
Horizontal integration of summary statistics from different GWAS traits can be used to
evaluate evidence for their shared genetic causality. One popular method to do this is a …

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 …

Whole genome association study of the plasma metabolome identifies metabolites linked to cardiometabolic disease in black individuals

UA Tahir, DH Katz, J Avila-Pachecho, AG Bick… - Nature …, 2022 - nature.com
Integrating genetic information with metabolomics has provided new insights into genes
affecting human metabolism. However, gene-metabolite integration has been primarily …