Publications
Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.
Sakornsakolpat P, et al.
Sakornsakolpat P, et al.
Nat Genet. 2019 Mar;51(3):494-505. doi: 10.1038/s41588-018-0342-2
Phenotypes
- chronic obstructive pulmonary disease (COPD)
Subjects
| Cases | Controls | Cohort | Ancestry |
|---|---|---|---|
| 21,081 | 179,711 | UK Biobank | European |
| 1,060 | 6,164 | Atherosclerosis Risk in Communities (ARIC) | Caucasian |
| 736 | 1,586 | Cardiovascular Health Study European (CHS EA) | European |
| 3,068 | 2,110 | COPDGene NHW | Non-Hispanic White |
| 1,741 | 149 | Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-points (ECLIPSE) | European |
| 394 | 495 | Boston Early-Onset COPD Study (BEOCOPD | European |
| 1,852 | 557 | International COPD Genetics Network (ICGN) | European |
| 252 | 224 | Expression Quantitative Trait Loci – Lung (eQTL) | European |
| 701 | 5,110 | Framingham Heart Study (FHS) | European |
| 466 | 9,863 | LifeLines Cohort Study (LifeLines) | European |
| 259 | 641 | Lovelace Smokers Cohort (LSC) | Caucasian |
| 167 | 754 | Multi-Ethnic Study of Atherosclerosis (MESA) Caucasian | Caucasian |
| 376 | 435 | National Emphysema Treatment Trial and Normative Aging Study (NETT-NAS) | European |
| 846 | 695 | Norwegian Genetics of Chronic Obstructive Lung Disease (Norway/GenKOLS) | European |
| 112 | 815 | Rotterdam Study Cohort 1 (RS1) | European |
| 94 | 811 | Rotterdam Study Cohort 2 (RS2) | European |
| 106 | 1596 | Rotterdam Study Cohort 3 (RS3) | European |
| 571 | 175 | Subpopulations and intermediate outcome measures in COPD study (SPIROMICS) | European |
| 307 | 311 | Transcontinental COPD Genetics Study (TCGS) Poland | European |
| 138 | 292 | Cardiovascular Health Study African American (CHS AA) | African American |
| 910 | 1,556 | COPDGene AA | African American |
| 199 | 6,741 | Korean Association Resource project (KARE) | East Asian |
| 94 | 532 | Multi-Ethnic Study of Atherosclerosis (MESA) AA | African American |
| 52 | 548 | Multi-Ethnic Study of Atherosclerosis (MESA) Hispanic | Hispanic |
| 153 | 205 | Transcontinental COPD Genetics Study (TCGS) Korea | East Asian |
Experiment summary
This study is a meta-analysis of chronic obstructive pulmonary disease (COPD) associations from 25 studies. COPD was defined by using prebronchodilator spirometry according to modified GOLD criteria for moderate to very severe airflow limitation: FEV1 less than 80% of the predicted value and a ratio between FEV1 and FVC of less than 0.7.
Dataset ID
GWAS_UKBiobankModLeic