Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis
Introduction Idiopathic pulmonary fibrosis (IPF) is a chronic interstitial pneumonia marked by progressive lung fibrosis and a poor prognosis. Recent studies have highlighted the potential role of infection in the pathogenesis of IPF, and a prior association of the HLA-DQB1 gene with idiopathic fibr...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2023 |
| País: | España |
| Institución: | Universidad de Barcelona |
| Repositorio: | Dipòsit Digital de la UB |
| OAI Identifier: | oai:diposit.ub.edu:2445/212227 |
| Acceso en línea: | https://hdl.handle.net/2445/212227 |
| Access Level: | acceso abierto |
| Palabra clave: | Fibrosi pulmonar Antígens CD Pulmonary fibrosis CD antigens |
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Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosisGuillén Guió, BeatrizPaynton, Megan L.Allen, Richard J.Chin, Daniel P. W.Donoghue, Lauren J.Stockwell, AmyLeavy, Olivia C.Hernández Beeftink, TamaraReynolds, CarlCullinan, PaulMartínez, FernandoBooth, Helen L.Fahy, William A.Hall, Ian P.Hart, Simon P.Hill, Mike R.Hirani, NikHubbard, Richard B.Mcanulty, Robin J.Millar, Ann B.Navaratnam, VidyaOballa, EuniceParfrey, HelenSaini, GauriSayers, IanTobin, Martin D.Whyte, Moira K. B.Adegunsoye, AyodejiKaminski, NaftaliMa, Shwu-FanStrek, Mary E.Zhang, YingzeFingerlin, Tasha E.Molina Molina, MaríaNeighbors, MargaretSheng, X. RebeccaOldham, Justin M.Maher, Toby M.Molyneaux, Philip L.Flores, CarlosNoth, ImreSchwartz, David A.Yaspan, Brian L.Jenkins, R. GisliWain, Louise V.Hollox, Edward J.Fibrosi pulmonarAntígens CDPulmonary fibrosisCD antigensIntroduction Idiopathic pulmonary fibrosis (IPF) is a chronic interstitial pneumonia marked by progressive lung fibrosis and a poor prognosis. Recent studies have highlighted the potential role of infection in the pathogenesis of IPF, and a prior association of the HLA-DQB1 gene with idiopathic fibrotic interstitial pneumonia (including IPF) has been reported. Owing to the important role that the human leukocyte antigen (HLA) region plays in the immune response, here we evaluated if HLA genetic variation was associated specifically with IPF risk. Methods We performed a meta-analysis of associations of the HLA region with IPF risk in individuals of European ancestry from seven independent case-control studies of IPF (comprising 5159 cases and 27 459 controls, including a prior study of fibrotic interstitial pneumonia). Single nucleotide polymorphisms, classical HLA alleles and amino acids were analysed and signals meeting a region-wide association threshold of p<4.5x10-4 and a posterior probability of replication >90% were considered significant. We sought to replicate the previously reported HLA-DQB1 association in the subset of studies independent of the original report. Results The meta-analysis of all seven studies identified four significant independent single nucleotide polymorphisms associated with IPF risk. However, none met the posterior probability for replication criterion. The HLA-DQB1 association was not replicated in the independent IPF studies. Conclusion Variation in the HLA region was not consistently associated with risk in studies of IPF. However, this does not preclude the possibility that other genomic regions linked to the immune response may be involved in the aetiology of IPF.European Respiratory Society (ERS)2023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/212227Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1183/23120541.00553-2023ERJ Open Research, 2023, vol. 10, num. 1https://doi.org/10.1183/23120541.00553-2023cc by (c) Guillén Guió, Beatriz et al, 2023http://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/2122272026-05-27T06:46:51Z |
| dc.title.none.fl_str_mv |
Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis |
| title |
Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis |
| spellingShingle |
Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis Guillén Guió, Beatriz Fibrosi pulmonar Antígens CD Pulmonary fibrosis CD antigens |
| title_short |
Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis |
| title_full |
Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis |
| title_fullStr |
Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis |
| title_full_unstemmed |
Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis |
| title_sort |
Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis |
| dc.creator.none.fl_str_mv |
Guillén Guió, Beatriz Paynton, Megan L. Allen, Richard J. Chin, Daniel P. W. Donoghue, Lauren J. Stockwell, Amy Leavy, Olivia C. Hernández Beeftink, Tamara Reynolds, Carl Cullinan, Paul Martínez, Fernando Booth, Helen L. Fahy, William A. Hall, Ian P. Hart, Simon P. Hill, Mike R. Hirani, Nik Hubbard, Richard B. Mcanulty, Robin J. Millar, Ann B. Navaratnam, Vidya Oballa, Eunice Parfrey, Helen Saini, Gauri Sayers, Ian Tobin, Martin D. Whyte, Moira K. B. Adegunsoye, Ayodeji Kaminski, Naftali Ma, Shwu-Fan Strek, Mary E. Zhang, Yingze Fingerlin, Tasha E. Molina Molina, María Neighbors, Margaret Sheng, X. Rebecca Oldham, Justin M. Maher, Toby M. Molyneaux, Philip L. Flores, Carlos Noth, Imre Schwartz, David A. Yaspan, Brian L. Jenkins, R. Gisli Wain, Louise V. Hollox, Edward J. |
| author |
Guillén Guió, Beatriz |
| author_facet |
Guillén Guió, Beatriz Paynton, Megan L. Allen, Richard J. Chin, Daniel P. W. Donoghue, Lauren J. Stockwell, Amy Leavy, Olivia C. Hernández Beeftink, Tamara Reynolds, Carl Cullinan, Paul Martínez, Fernando Booth, Helen L. Fahy, William A. Hall, Ian P. Hart, Simon P. Hill, Mike R. Hirani, Nik Hubbard, Richard B. Mcanulty, Robin J. Millar, Ann B. Navaratnam, Vidya Oballa, Eunice Parfrey, Helen Saini, Gauri Sayers, Ian Tobin, Martin D. Whyte, Moira K. B. Adegunsoye, Ayodeji Kaminski, Naftali Ma, Shwu-Fan Strek, Mary E. Zhang, Yingze Fingerlin, Tasha E. Molina Molina, María Neighbors, Margaret Sheng, X. Rebecca Oldham, Justin M. Maher, Toby M. Molyneaux, Philip L. Flores, Carlos Noth, Imre Schwartz, David A. Yaspan, Brian L. Jenkins, R. Gisli Wain, Louise V. Hollox, Edward J. |
| author_role |
author |
| author2 |
Paynton, Megan L. Allen, Richard J. Chin, Daniel P. W. Donoghue, Lauren J. Stockwell, Amy Leavy, Olivia C. Hernández Beeftink, Tamara Reynolds, Carl Cullinan, Paul Martínez, Fernando Booth, Helen L. Fahy, William A. Hall, Ian P. Hart, Simon P. Hill, Mike R. Hirani, Nik Hubbard, Richard B. Mcanulty, Robin J. Millar, Ann B. Navaratnam, Vidya Oballa, Eunice Parfrey, Helen Saini, Gauri Sayers, Ian Tobin, Martin D. Whyte, Moira K. B. Adegunsoye, Ayodeji Kaminski, Naftali Ma, Shwu-Fan Strek, Mary E. Zhang, Yingze Fingerlin, Tasha E. Molina Molina, María Neighbors, Margaret Sheng, X. Rebecca Oldham, Justin M. Maher, Toby M. Molyneaux, Philip L. Flores, Carlos Noth, Imre Schwartz, David A. Yaspan, Brian L. Jenkins, R. Gisli Wain, Louise V. Hollox, Edward J. |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
Fibrosi pulmonar Antígens CD Pulmonary fibrosis CD antigens |
| topic |
Fibrosi pulmonar Antígens CD Pulmonary fibrosis CD antigens |
| description |
Introduction Idiopathic pulmonary fibrosis (IPF) is a chronic interstitial pneumonia marked by progressive lung fibrosis and a poor prognosis. Recent studies have highlighted the potential role of infection in the pathogenesis of IPF, and a prior association of the HLA-DQB1 gene with idiopathic fibrotic interstitial pneumonia (including IPF) has been reported. Owing to the important role that the human leukocyte antigen (HLA) region plays in the immune response, here we evaluated if HLA genetic variation was associated specifically with IPF risk. Methods We performed a meta-analysis of associations of the HLA region with IPF risk in individuals of European ancestry from seven independent case-control studies of IPF (comprising 5159 cases and 27 459 controls, including a prior study of fibrotic interstitial pneumonia). Single nucleotide polymorphisms, classical HLA alleles and amino acids were analysed and signals meeting a region-wide association threshold of p<4.5x10-4 and a posterior probability of replication >90% were considered significant. We sought to replicate the previously reported HLA-DQB1 association in the subset of studies independent of the original report. Results The meta-analysis of all seven studies identified four significant independent single nucleotide polymorphisms associated with IPF risk. However, none met the posterior probability for replication criterion. The HLA-DQB1 association was not replicated in the independent IPF studies. Conclusion Variation in the HLA region was not consistently associated with risk in studies of IPF. However, this does not preclude the possibility that other genomic regions linked to the immune response may be involved in the aetiology of IPF. |
| publishDate |
2023 |
| dc.date.none.fl_str_mv |
2023 |
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info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
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article |
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publishedVersion |
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https://hdl.handle.net/2445/212227 |
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https://hdl.handle.net/2445/212227 |
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Inglés |
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Inglés |
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Reproducció del document publicat a: https://doi.org/10.1183/23120541.00553-2023 ERJ Open Research, 2023, vol. 10, num. 1 https://doi.org/10.1183/23120541.00553-2023 |
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cc by (c) Guillén Guió, Beatriz et al, 2023 http://creativecommons.org/licenses/by/3.0/es/ info:eu-repo/semantics/openAccess |
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cc by (c) Guillén Guió, Beatriz et al, 2023 http://creativecommons.org/licenses/by/3.0/es/ |
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openAccess |
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application/pdf |
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European Respiratory Society (ERS) |
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European Respiratory Society (ERS) |
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Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) reponame:Dipòsit Digital de la UB instname:Universidad de Barcelona |
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Universidad de Barcelona |
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