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Pregled bibliografske jedinice broj: 1252376

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

(SpiroMeta Consortium ; Int COPD Genetics Consortium ; Understanding Soc Sci Grp) 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 et al.
Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations // Nature Genetics, 51 (2019), 3; 494-505 doi:10.1038/s41588-018-0342-2 (međunarodna recenzija, članak, znanstveni)

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

Autori
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. ; Shrine, Nick ; Guyatt, Anna L. ; Batini, Chiara ; Zhao, Jing Hua ; Wielscher, Matthias ; Weiss, Stefan ; Kentistou, Katherine A. ; Cook, James P. ; Hui, Jennie ; Karrasch, Stefan ; Imboden, Medea ; Harris, Sarah E. ; Marten, Jonathan ; Enroth, Stefan ; Kerr, Shona M. ; Surakka, Ida ; Vitart, Veronique ; Lehtimäki, Terho ; Ewert, Ralf ; Gieger, Christian ; Homuth, Georg ; Joshi, Peter K. ; Langenberg, Claudia ; Lind, Lars ; Luan, Jian’an ; Mahajan, Anubha ; Murray, Alison ; Porteous, David J. ; Rawal, Rajesh ; Smith, Blair H. ; Timmers, Paul R. H. J. ; Raitakari, Olli T. ; Kähönen, Mika ; Polasek, Ozren ; Gyllensten, Ulf ; Rudan, Igor ; Deary, Ian J. ; Probst-Hensch, Nicole M. ; Schulz, Holger ; James, Alan L. ; Wilson, James F. ; Stubbe, Beate ; Zeggini, Eleftheria ; Jarvelin, Marjo-Riitta ; Wareham, Nick ; Hayward, Caroline ; Morris, Andrew P. ; Strachan, David P. ; Hall, Ian P. ; Tobin, Martin D. ; Wain, Louise V. ; Agusti, Alvar ; Anderson, Wayne ; Bakerly, Nawar ; Bakke, Per ; Bals, Robert ; Barnes, Kathleen C. ; Barr, R. Graham ; Beaty, Terri H. ; Bleecker, Eugene R. ; Boezen, H. Marike ; Bossé, Yohan ; Bowler, Russell ; Brightling, Christopher ; de Bruijne, Marleen ; Castaldi, Peter J. ; Celli, Bartolome ; Cho, Michael H. ; Coxson, Harvey O. ; Crapo, James D. ; Crystal, Ron ; de Jong, Pim ; Dirksen, Asger ; Dy, Jennifer ; Foreman, Marilyn ; Garcia-Aymerich, Judith ; Gevenois, Pierre ; Ghosh, Soumitra ; Gietema, Hester ; Gulsvik, Amund ; Hall, Ian P. ; Hansel, Nadia ; Hersh, Craig P. ; Hobbs, Brian D. ; Hoffman, Eric ; Kalsheker, Noor ; Kauczor, Hans-Ulrich ; Kim, Woo Jin ; Kim, Deog Kyeom ; Laitinen, Tarja ; Lambrechts, Diether ; Lee, Sang-Do ; Litonjua, Augusto A. ; Lomas, David A. ; London, Stephanie J. ; Loth, Daan W. ; Lutz, Sharon M. ; Lynch, David ; MacNee, William ; McDonald, Merry-Lynn ; Meyers, Deborah A. ; Newell, John D. ; Nordestgaard, Borge G. ; O’Connor, George T. ; Obeidat, Ma’en ; Oh, Yeon-Mok ; Paré, Peter D. ; Pistolesi, Massimo ; Postma, Dirkje S. ; Puhan, Milo ; Regan, Elizabeth ; Rich, Stephen S. ; Seo, Joon Beom ; Short, Andrea ; Silverman, Edwin K. ; Sparrow, David ; Stoel, Berend ; Strachan, David P. ; Sverzellati, Nicola ; Tal-Singer, Ruth ; ter Riet, Gerben ; Tesfaigzi, Yohannes ; Tobin, Martin D. ; Van Beek, Edwin J. R. ; van Ginneken, Bram ; Vestbo, Jørgen ; Vogelmeier, Claus F. ; Wain, Louise V. ; Wanner, Adam ; Washko, George ; Wauters, Els ; Wouters, Emiel F. M. ; Young, Robert P. ; Zeigler-Heitbrock, Loems ; SpiroMeta Consortium ; Understanding Society Scientific Group ; International COPD Genetics Consortium

Kolaboracija
SpiroMeta Consortium ; Int COPD Genetics Consortium ; Understanding Soc Sci Grp

Izvornik
Nature Genetics (1061-4036) 51 (2019), 3; 494-505

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
GENOME-WIDE ASSOCIATION ; ACIDIC-MAMMALIAN-CHITINASE ; LD SCORE REGRESSION ; LUNG-FUNCTION ; EXTRACELLULAR-MATRIX ; PREDOMINANT EMPHYSEMA ; CONNECTIVITY MAP ; ATOPIC ASTHMA ; RISK LOCI ; GWAS

Sažetak
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 x 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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Split

Profili:

Avatar Url Ozren Polašek (autor)

Avatar Url Igor Rudan (autor)

Poveznice na cjeloviti tekst rada:

doi

Citiraj ovu publikaciju:

(SpiroMeta Consortium ; Int COPD Genetics Consortium ; Understanding Soc Sci Grp) 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 et al.
Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations // Nature Genetics, 51 (2019), 3; 494-505 doi:10.1038/s41588-018-0342-2 (međunarodna recenzija, članak, znanstveni)
(SpiroMeta Consortium ; Int COPD Genetics Consortium ; Understanding Soc Sci Grp) (SpiroMeta Consortium, Int COPD Genetics Consortium, Understanding Soc Sci Grp) Sakornsakolpat, P., Prokopenko, D., Lamontagne, M., Reeve, N., Guyatt, A., Jackson, V., Shrine, N., Qiao, D., Bartz, T. & Kim, D. (2019) Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. Nature Genetics, 51 (3), 494-505 doi:10.1038/s41588-018-0342-2.
@article{article, author = {Sakornsakolpat, Phuwanat and Prokopenko, Dmitry and Lamontagne, Maxime and Reeve, Nicola F. and Guyatt, Anna L. and Jackson, Victoria E. and Shrine, Nick and Qiao, Dandi and Bartz, Traci M. and Kim, Deog Kyeom and Lee, Mi Kyeong and Latourelle, Jeanne C. and Li, Xingnan and Morrow, Jarrett D. and Obeidat, Ma’en and Wyss, Annah B. and Bakke, Per and Barr, R. Graham and Beaty, Terri H. and Belinsky, Steven A. and Brusselle, Guy G. and Crapo, James D. and de Jong, Kim and DeMeo, Dawn L. and Fingerlin, Tasha E. and Gharib, Sina A. and Gulsvik, Amund and Hall, Ian P. and Hokanson, John E. and Kim, Woo Jin and Lomas, David A. and London, Stephanie J. and Meyers, Deborah A. and O’Connor, George T. and Rennard, Stephen I. and Schwartz, David A. and Sliwinski, Pawel and Sparrow, David and Strachan, David P. and Tal-Singer, Ruth and Tesfaigzi, Yohannes and Vestbo, J\orgen and Vonk, Judith M. and Yim, Jae-Joon and Zhou, Xiaobo and Boss\'{e}, Yohan and Manichaikul, Ani and Lahousse, Lies and Silverman, Edwin K. and Boezen, H. Marike and Wain, Louise V. and Tobin, Martin D. and Hobbs, Brian D. and Cho, Michael H. and Shrine, Nick and Guyatt, Anna L. and Batini, Chiara and Zhao, Jing Hua and Wielscher, Matthias and Weiss, Stefan and Kentistou, Katherine A. and Cook, James P. and Hui, Jennie and Karrasch, Stefan and Imboden, Medea and Harris, Sarah E. and Marten, Jonathan and Enroth, Stefan and Kerr, Shona M. and Surakka, Ida and Vitart, Veronique and Lehtim\"{a}ki, Terho and Ewert, Ralf and Gieger, Christian and Homuth, Georg and Joshi, Peter K. and Langenberg, Claudia and Lind, Lars and Luan, Jian’an and Mahajan, Anubha and Murray, Alison and Porteous, David J. and Rawal, Rajesh and Smith, Blair H. and Timmers, Paul R. H. J. and Raitakari, Olli T. and K\"{a}h\"{o}nen, Mika and Polasek, Ozren and Gyllensten, Ulf and Rudan, Igor and Deary, Ian J. and Probst-Hensch, Nicole M. and Schulz, Holger and James, Alan L. and Wilson, James F. and Stubbe, Beate and Zeggini, Eleftheria and Jarvelin, Marjo-Riitta and Wareham, Nick and Hayward, Caroline and Morris, Andrew P. and Strachan, David P. and Hall, Ian P. and Tobin, Martin D. and Wain, Louise V. and Agusti, Alvar and Anderson, Wayne and Bakerly, Nawar and Bakke, Per and Bals, Robert and Barnes, Kathleen C. and Barr, R. Graham and Beaty, Terri H. and Bleecker, Eugene R. and Boezen, H. Marike and Boss\'{e}, Yohan and Bowler, Russell and Brightling, Christopher and de Bruijne, Marleen and Castaldi, Peter J. and Celli, Bartolome and Cho, Michael H. and Coxson, Harvey O. and Crapo, James D. and Crystal, Ron and de Jong, Pim and Dirksen, Asger and Dy, Jennifer and Foreman, Marilyn and Garcia-Aymerich, Judith and Gevenois, Pierre and Ghosh, Soumitra and Gietema, Hester and Gulsvik, Amund and Hall, Ian P. and Hansel, Nadia and Hersh, Craig P. and Hobbs, Brian D. and Hoffman, Eric and Kalsheker, Noor and Kauczor, Hans-Ulrich and Kim, Woo Jin and Kim, Deog Kyeom and Laitinen, Tarja and Lambrechts, Diether and Lee, Sang-Do and Litonjua, Augusto A. and Lomas, David A. and London, Stephanie J. and Loth, Daan W. and Lutz, Sharon M. and Lynch, David and MacNee, William and McDonald, Merry-Lynn and Meyers, Deborah A. and Newell, John D. and Nordestgaard, Borge G. and O’Connor, George T. and Obeidat, Ma’en and Oh, Yeon-Mok and Par\'{e}, Peter D. and Pistolesi, Massimo and Postma, Dirkje S. and Puhan, Milo and Regan, Elizabeth and Rich, Stephen S. and Seo, Joon Beom and Short, Andrea and Silverman, Edwin K. and Sparrow, David and Stoel, Berend and Strachan, David P. and Sverzellati, Nicola and Tal-Singer, Ruth and ter Riet, Gerben and Tesfaigzi, Yohannes and Tobin, Martin D. and Van Beek, Edwin J. R. and van Ginneken, Bram and Vestbo, J\orgen and Vogelmeier, Claus F. and Wain, Louise V. and Wanner, Adam and Washko, George and Wauters, Els and Wouters, Emiel F. M. and Young, Robert P. and Zeigler-Heitbrock, Loems}, year = {2019}, pages = {494-505}, DOI = {10.1038/s41588-018-0342-2}, keywords = {GENOME-WIDE ASSOCIATION, ACIDIC-MAMMALIAN-CHITINASE, LD SCORE REGRESSION, LUNG-FUNCTION, EXTRACELLULAR-MATRIX, PREDOMINANT EMPHYSEMA, CONNECTIVITY MAP, ATOPIC ASTHMA, RISK LOCI, GWAS}, journal = {Nature Genetics}, doi = {10.1038/s41588-018-0342-2}, volume = {51}, number = {3}, issn = {1061-4036}, title = {Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations}, keyword = {GENOME-WIDE ASSOCIATION, ACIDIC-MAMMALIAN-CHITINASE, LD SCORE REGRESSION, LUNG-FUNCTION, EXTRACELLULAR-MATRIX, PREDOMINANT EMPHYSEMA, CONNECTIVITY MAP, ATOPIC ASTHMA, RISK LOCI, GWAS} }
@article{article, author = {Sakornsakolpat, Phuwanat and Prokopenko, Dmitry and Lamontagne, Maxime and Reeve, Nicola F. and Guyatt, Anna L. and Jackson, Victoria E. and Shrine, Nick and Qiao, Dandi and Bartz, Traci M. and Kim, Deog Kyeom and Lee, Mi Kyeong and Latourelle, Jeanne C. and Li, Xingnan and Morrow, Jarrett D. and Obeidat, Ma’en and Wyss, Annah B. and Bakke, Per and Barr, R. Graham and Beaty, Terri H. and Belinsky, Steven A. and Brusselle, Guy G. and Crapo, James D. and de Jong, Kim and DeMeo, Dawn L. and Fingerlin, Tasha E. and Gharib, Sina A. and Gulsvik, Amund and Hall, Ian P. and Hokanson, John E. and Kim, Woo Jin and Lomas, David A. and London, Stephanie J. and Meyers, Deborah A. and O’Connor, George T. and Rennard, Stephen I. and Schwartz, David A. and Sliwinski, Pawel and Sparrow, David and Strachan, David P. and Tal-Singer, Ruth and Tesfaigzi, Yohannes and Vestbo, J\orgen and Vonk, Judith M. and Yim, Jae-Joon and Zhou, Xiaobo and Boss\'{e}, Yohan and Manichaikul, Ani and Lahousse, Lies and Silverman, Edwin K. and Boezen, H. Marike and Wain, Louise V. and Tobin, Martin D. and Hobbs, Brian D. and Cho, Michael H. and Shrine, Nick and Guyatt, Anna L. and Batini, Chiara and Zhao, Jing Hua and Wielscher, Matthias and Weiss, Stefan and Kentistou, Katherine A. and Cook, James P. and Hui, Jennie and Karrasch, Stefan and Imboden, Medea and Harris, Sarah E. and Marten, Jonathan and Enroth, Stefan and Kerr, Shona M. and Surakka, Ida and Vitart, Veronique and Lehtim\"{a}ki, Terho and Ewert, Ralf and Gieger, Christian and Homuth, Georg and Joshi, Peter K. and Langenberg, Claudia and Lind, Lars and Luan, Jian’an and Mahajan, Anubha and Murray, Alison and Porteous, David J. and Rawal, Rajesh and Smith, Blair H. and Timmers, Paul R. H. J. and Raitakari, Olli T. and K\"{a}h\"{o}nen, Mika and Polasek, Ozren and Gyllensten, Ulf and Rudan, Igor and Deary, Ian J. and Probst-Hensch, Nicole M. and Schulz, Holger and James, Alan L. and Wilson, James F. and Stubbe, Beate and Zeggini, Eleftheria and Jarvelin, Marjo-Riitta and Wareham, Nick and Hayward, Caroline and Morris, Andrew P. and Strachan, David P. and Hall, Ian P. and Tobin, Martin D. and Wain, Louise V. and Agusti, Alvar and Anderson, Wayne and Bakerly, Nawar and Bakke, Per and Bals, Robert and Barnes, Kathleen C. and Barr, R. Graham and Beaty, Terri H. and Bleecker, Eugene R. and Boezen, H. Marike and Boss\'{e}, Yohan and Bowler, Russell and Brightling, Christopher and de Bruijne, Marleen and Castaldi, Peter J. and Celli, Bartolome and Cho, Michael H. and Coxson, Harvey O. and Crapo, James D. and Crystal, Ron and de Jong, Pim and Dirksen, Asger and Dy, Jennifer and Foreman, Marilyn and Garcia-Aymerich, Judith and Gevenois, Pierre and Ghosh, Soumitra and Gietema, Hester and Gulsvik, Amund and Hall, Ian P. and Hansel, Nadia and Hersh, Craig P. and Hobbs, Brian D. and Hoffman, Eric and Kalsheker, Noor and Kauczor, Hans-Ulrich and Kim, Woo Jin and Kim, Deog Kyeom and Laitinen, Tarja and Lambrechts, Diether and Lee, Sang-Do and Litonjua, Augusto A. and Lomas, David A. and London, Stephanie J. and Loth, Daan W. and Lutz, Sharon M. and Lynch, David and MacNee, William and McDonald, Merry-Lynn and Meyers, Deborah A. and Newell, John D. and Nordestgaard, Borge G. and O’Connor, George T. and Obeidat, Ma’en and Oh, Yeon-Mok and Par\'{e}, Peter D. and Pistolesi, Massimo and Postma, Dirkje S. and Puhan, Milo and Regan, Elizabeth and Rich, Stephen S. and Seo, Joon Beom and Short, Andrea and Silverman, Edwin K. and Sparrow, David and Stoel, Berend and Strachan, David P. and Sverzellati, Nicola and Tal-Singer, Ruth and ter Riet, Gerben and Tesfaigzi, Yohannes and Tobin, Martin D. and Van Beek, Edwin J. R. and van Ginneken, Bram and Vestbo, J\orgen and Vogelmeier, Claus F. and Wain, Louise V. and Wanner, Adam and Washko, George and Wauters, Els and Wouters, Emiel F. M. and Young, Robert P. and Zeigler-Heitbrock, Loems}, year = {2019}, pages = {494-505}, DOI = {10.1038/s41588-018-0342-2}, keywords = {GENOME-WIDE ASSOCIATION, ACIDIC-MAMMALIAN-CHITINASE, LD SCORE REGRESSION, LUNG-FUNCTION, EXTRACELLULAR-MATRIX, PREDOMINANT EMPHYSEMA, CONNECTIVITY MAP, ATOPIC ASTHMA, RISK LOCI, GWAS}, journal = {Nature Genetics}, doi = {10.1038/s41588-018-0342-2}, volume = {51}, number = {3}, issn = {1061-4036}, title = {Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations}, keyword = {GENOME-WIDE ASSOCIATION, ACIDIC-MAMMALIAN-CHITINASE, LD SCORE REGRESSION, LUNG-FUNCTION, EXTRACELLULAR-MATRIX, PREDOMINANT EMPHYSEMA, CONNECTIVITY MAP, ATOPIC ASTHMA, RISK LOCI, GWAS} }

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    • Science Citation Index Expanded (SCI-EXP)
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