Emerging genetics of COPD
Abstract Since the discovery of alpha‐1 antitrypsin in the early 1960s, several new genes have been suggested to play a role in chronic obstructive pulmonary disease (COPD) pathogenesis. Yet, in spite of those advances, much about the genetic basis of COPD still remains to be discovered. Unbiased ap...
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| Format: | Article |
| Language: | English |
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Springer Nature
2012-10-01
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| Series: | EMBO Molecular Medicine |
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| Online Access: | https://doi.org/10.1002/emmm.201100627 |
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| author | Annerose Berndt Adriana S. Leme Steven D. Shapiro |
| author_facet | Annerose Berndt Adriana S. Leme Steven D. Shapiro |
| author_sort | Annerose Berndt |
| collection | DOAJ |
| description | Abstract Since the discovery of alpha‐1 antitrypsin in the early 1960s, several new genes have been suggested to play a role in chronic obstructive pulmonary disease (COPD) pathogenesis. Yet, in spite of those advances, much about the genetic basis of COPD still remains to be discovered. Unbiased approaches, such as genome‐wide association (GWA) studies, are critical to identify genes and pathways and to verify suggested genetic variants. Indeed, most of our current understanding about COPD candidate genes originates from GWA studies. Experiments in form of cross‐study replications and advanced meta‐analyses have propelled the field towards unravelling details about COPD's pathogenesis. Here, we review the discovery of genetic variants in association with COPD phenotypes by discussing the available approaches and current findings. Limitations of current studies are considered and future directions provided. |
| format | Article |
| id | doaj-art-e6d8cff13b9941acaf49f8b68bcc4d7f |
| institution | OA Journals |
| issn | 1757-4676 1757-4684 |
| language | English |
| publishDate | 2012-10-01 |
| publisher | Springer Nature |
| record_format | Article |
| series | EMBO Molecular Medicine |
| spelling | doaj-art-e6d8cff13b9941acaf49f8b68bcc4d7f2025-08-20T02:18:25ZengSpringer NatureEMBO Molecular Medicine1757-46761757-46842012-10-014111144115510.1002/emmm.201100627Emerging genetics of COPDAnnerose Berndt0Adriana S. Leme1Steven D. Shapiro2Division of Pulmonary, Allergy and Critical Care Medicine, Department of Medicine, University of Pittsburgh Medical Center, University of Pittsburgh School of MedicineDivision of Pulmonary, Allergy and Critical Care Medicine, Department of Medicine, University of Pittsburgh Medical Center, University of Pittsburgh School of MedicineDivision of Pulmonary, Allergy and Critical Care Medicine, Department of Medicine, University of Pittsburgh Medical Center, University of Pittsburgh School of MedicineAbstract Since the discovery of alpha‐1 antitrypsin in the early 1960s, several new genes have been suggested to play a role in chronic obstructive pulmonary disease (COPD) pathogenesis. Yet, in spite of those advances, much about the genetic basis of COPD still remains to be discovered. Unbiased approaches, such as genome‐wide association (GWA) studies, are critical to identify genes and pathways and to verify suggested genetic variants. Indeed, most of our current understanding about COPD candidate genes originates from GWA studies. Experiments in form of cross‐study replications and advanced meta‐analyses have propelled the field towards unravelling details about COPD's pathogenesis. Here, we review the discovery of genetic variants in association with COPD phenotypes by discussing the available approaches and current findings. Limitations of current studies are considered and future directions provided.https://doi.org/10.1002/emmm.201100627COPDgenesgeneticsgenome‐wide association studiesobstructive pulmonary disease |
| spellingShingle | Annerose Berndt Adriana S. Leme Steven D. Shapiro Emerging genetics of COPD EMBO Molecular Medicine COPD genes genetics genome‐wide association studies obstructive pulmonary disease |
| title | Emerging genetics of COPD |
| title_full | Emerging genetics of COPD |
| title_fullStr | Emerging genetics of COPD |
| title_full_unstemmed | Emerging genetics of COPD |
| title_short | Emerging genetics of COPD |
| title_sort | emerging genetics of copd |
| topic | COPD genes genetics genome‐wide association studies obstructive pulmonary disease |
| url | https://doi.org/10.1002/emmm.201100627 |
| work_keys_str_mv | AT anneroseberndt emerginggeneticsofcopd AT adrianasleme emerginggeneticsofcopd AT stevendshapiro emerginggeneticsofcopd |