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Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations
- Source :
- International COPD Genetics Consortium & Vestbo, J 2019, ' Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations ', Nature Genetics . https://doi.org/10.1038/s41588-018-0342-2, Nature Genetics, 51, 494, Nature Genetics, 51(3), 494-505. Nature Publishing Group, Nat. Genet. 51, 494-505 (2019), Nature genetics, 51(3), 494-505. Nature Publishing Group, Nature Genetics, 51(3), 494-+. NATURE PUBLISHING GROUP, Nature Genetics, 51, 3, pp. 494, Nature Genetics, 51(3), 494-+. Nature Publishing Group, NATURE GENETICS, Nature genetics, 2019, ' Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations ', Nature Genetics, vol. 51, no. 3, pp. 494-+ . https://doi.org/10.1038/s41588-018-0342-2
- Publication Year :
- 2019
-
Abstract
- Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic risk loci provide novel insights into disease pathogenesis. We performed a genome-wide association study in 35,735 cases and 222,076 controls from the UK Biobank and additional studies from the International COPD Genetics Consortium. We identified 82 loci with P-value < 5 × 10−8; 47 were previously described in association with either COPD or population-based lung function. Of the remaining 35 novel loci, 13 were associated with lung function in 79,055 individuals from the SpiroMeta consortium. Using gene expression and regulation data, we identified enrichment for loci in lung tissue, smooth muscle and several lung cell types. We found 14 COPD loci shared with either asthma or pulmonary fibrosis. COPD genetic risk loci clustered into groups of quantitative imaging features and comorbidity associations. Our analyses provide further support to the genetic susceptibility and heterogeneity of COPD.<br />Editorial summary Genome-wide analysis of chronic obstructive pulmonary disease identifies 82 loci, 35 of which are new. Integration of gene expression and genomic annotation data shows enrichment of signals in lung tissue, smooth muscle and several lung cell types.
- Subjects :
- Male
Lydia Becker Institute
Pulmonary Fibrosis
LD SCORE REGRESSION
Gene Expression
Genome-wide association study
Pulmonary Disease, Chronic Obstructive
0302 clinical medicine
Pulmonary fibrosis
GWAS
Lung
GENOME-WIDE ASSOCIATION
ACIDIC-MAMMALIAN-CHITINASE
LUNG-FUNCTION
EXTRACELLULAR-MATRIX
PREDOMINANT EMPHYSEMA
CONNECTIVITY MAP
ATOPIC ASTHMA
RISK LOCI
0303 health sciences
COPD
education.field_of_study
Smoking
1184 Genetics, developmental biology, physiology
Middle Aged
3. Good health
Phenotype
medicine.anatomical_structure
Medical genetics
Female
Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
Adult
medicine.medical_specialty
Population
Biology
Polymorphism, Single Nucleotide
Article
03 medical and health sciences
All institutes and research themes of the Radboud University Medical Center
ResearchInstitutes_Networks_Beacons/lydia_becker_institute_of_immunology_and_inflammation
Genetics
medicine
Genetic predisposition
Humans
Genetic Predisposition to Disease
education
Aged
030304 developmental biology
Asthma
medicine.disease
respiratory tract diseases
Genetic Loci
Case-Control Studies
Immunology
3111 Biomedicine
030217 neurology & neurosurgery
Genome-Wide Association Study
Subjects
Details
- Language :
- English
- ISSN :
- 10614036
- Database :
- OpenAIRE
- Journal :
- International COPD Genetics Consortium & Vestbo, J 2019, ' Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations ', Nature Genetics . https://doi.org/10.1038/s41588-018-0342-2, Nature Genetics, 51, 494, Nature Genetics, 51(3), 494-505. Nature Publishing Group, Nat. Genet. 51, 494-505 (2019), Nature genetics, 51(3), 494-505. Nature Publishing Group, Nature Genetics, 51(3), 494-+. NATURE PUBLISHING GROUP, Nature Genetics, 51, 3, pp. 494, Nature Genetics, 51(3), 494-+. Nature Publishing Group, NATURE GENETICS, Nature genetics, 2019, ' Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations ', Nature Genetics, vol. 51, no. 3, pp. 494-+ . https://doi.org/10.1038/s41588-018-0342-2
- Accession number :
- edsair.doi.dedup.....ec099389f4fe41f794ef3134769ca9f2