Nature genetics, 2019-03, Vol.51 (3), p.494-505
- Sakornsakolpat, Phuwanat
- Prokopenko, Dmitry
- Lamontagne, Maxime
- Reeve, Nicola F.
- Guyatt, Anna L.
- Jackson, Victoria E.
- Shrine, Nick
- Qiao, Dandi
- Bartz, Traci M.
- Kim, Deog Kyeom
- Lee, Mi Kyeong
- Latourelle, Jeanne C.
- Li, Xingnan
- Morrow, Jarrett D.
- Obeidat, Ma’en
- Wyss, Annah B.
- Bakke, Per
- Barr, R. Graham
- Beaty, Terri H.
- Belinsky, Steven A.
- Brusselle, Guy G.
- Crapo, James D.
- de Jong, Kim
- DeMeo, Dawn L.
- Fingerlin, Tasha E.
- Gharib, Sina A.
- Gulsvik, Amund
- Hall, Ian P.
- Hokanson, John E.
- Kim, Woo Jin
- Lomas, David A.
- London, Stephanie J.
- Meyers, Deborah A.
- O’Connor, George T.
- Rennard, Stephen I.
- Schwartz, David A.
- Sliwinski, Pawel
- Sparrow, David
- Strachan, David P.
- Tal-Singer, Ruth
- Tesfaigzi, Yohannes
- Vestbo, Jørgen
- Vonk, Judith M.
- Yim, Jae-Joon
- Zhou, Xiaobo
- Bossé, Yohan
- Manichaikul, Ani
- Lahousse, Lies
- Silverman, Edwin K.
- Boezen, H. Marike
- Wain, Louise V.
- Tobin, Martin D.
- Hobbs, Brian D.
- Cho, Michael H.
2019
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- Autor(en) / Beteiligte
- Sakornsakolpat, Phuwanat
- Prokopenko, Dmitry
- Lamontagne, Maxime
- Reeve, Nicola F.
- Guyatt, Anna L.
- Jackson, Victoria E.
- Shrine, Nick
- Qiao, Dandi
- Bartz, Traci M.
- Kim, Deog Kyeom
- Lee, Mi Kyeong
- Latourelle, Jeanne C.
- Li, Xingnan
- Morrow, Jarrett D.
- Obeidat, Ma’en
- Wyss, Annah B.
- Bakke, Per
- Barr, R. Graham
- Beaty, Terri H.
- Belinsky, Steven A.
- Brusselle, Guy G.
- Crapo, James D.
- de Jong, Kim
- DeMeo, Dawn L.
- Fingerlin, Tasha E.
- Gharib, Sina A.
- Gulsvik, Amund
- Hall, Ian P.
- Hokanson, John E.
- Kim, Woo Jin
- Lomas, David A.
- London, Stephanie J.
- Meyers, Deborah A.
- O’Connor, George T.
- Rennard, Stephen I.
- Schwartz, David A.
- Sliwinski, Pawel
- Sparrow, David
- Strachan, David P.
- Tal-Singer, Ruth
- Tesfaigzi, Yohannes
- Vestbo, Jørgen
- Vonk, Judith M.
- Yim, Jae-Joon
- Zhou, Xiaobo
- Bossé, Yohan
- Manichaikul, Ani
- Lahousse, Lies
- Silverman, Edwin K.
- Boezen, H. Marike
- Wain, Louise V.
- Tobin, Martin D.
- Hobbs, Brian D.
- Cho, Michael H.
- Titel
- Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations
- Ist Teil von
- Nature genetics, 2019-03, Vol.51 (3), p.494-505
- Ort / Verlag
- New York: Nature Publishing Group US
- Erscheinungsjahr
- 2019
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic risk loci provide new 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 associated with P < 5 × 10 −8 ; 47 of these were previously described in association with either COPD or population-based measures of lung function. Of the remaining 35 new loci, 13 were associated with lung function in 79,055 individuals from the SpiroMeta consortium. Using gene expression and regulation data, we identified functional enrichment of COPD risk 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 based on associations with quantitative imaging features and comorbidities. Our analyses provide further support for the genetic susceptibility and heterogeneity of COPD. 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1061-4036, 1546-1718eISSN: 1546-1718DOI: 10.1038/s41588-018-0342-2Titel-ID: cdi_pubmed_primary_30804561
- Format
- –
- Schlagworte
- 45, 45/43, 631/208/205/2138, 692/699/1785, Adult, Aged, Agriculture, Animal Genetics and Genomics, Asthma, Asthma - genetics, Biochemistry, Bioinformatics, Biomedical and Life Sciences, Biomedicine, Cancer Research, Care and treatment, Case-Control Studies, Chronic obstructive lung disease, Chronic obstructive pulmonary disease, Comorbidity, Consortia, Disease, Disease susceptibility, Female, Fibrosis, Gene expression, Gene Expression - genetics, Gene Function, Gene loci, Genes, Genetic aspects, Genetic Loci - genetics, Genetic Predisposition to Disease - genetics, Genetic research, Genetic susceptibility, Genetics, Genome-wide association studies, Genome-Wide Association Study - methods, Genomes, Genomics, Health risk assessment, Heterogeneity, Human Genetics, Humans, Lung - physiopathology, Lung diseases, Male, Medical schools, Middle Aged, Mortality, Muscles, Obstructive lung disease, Pathogenesis, Patient outcomes, Phenotype, Phenotypes, Polymorphism, Single Nucleotide - genetics, Population, Pulmonary Disease, Chronic Obstructive - genetics, Pulmonary fibrosis, Pulmonary Fibrosis - genetics, Respiratory function, Respiratory tract diseases, Risk, Smoking, Smoking - genetics, Smooth muscle, Studies, Telomerase