Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD

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• 作者：Nadia N. Hansel (1) (2)
  Ingo Ruczinski (3)
  Nicholas Rafaels (1)
  Don D. Sin (4)
  Denise Daley (4)
  Alla Malinina (1)
  Lili Huang (1)
  Andrew Sandford (4)
  Tanda Murray (1)
  Yoonhee Kim (5)
  Candelaria Vergara (1)
  Susan R. Heckbert (28) (29)
  Bruce M. Psaty (27) (28)
  Guo Li (6)
  W. Mark Elliott (7)
  Farzian Aminuddin (4)
  Josée Dupuis (10) (8)
  George T. O’Connor (10) (9)
  Kimberly Doheny (11)
  Alan F. Scott (11)
  H. Marike Boezen (12) (15)
  Dirkje S. Postma (13) (15)
  Joanna Smolonska (14) (15)
  Pieter Zanen (16)
  Firdaus A. Mohamed Hoesein (16)
  Harry J. de Koning (17)
  Ronald G. Crystal (18)
  Toshiko Tanaka (19)
  Luigi Ferrucci (19)
  Edwin Silverman (20)
  Emily Wan (20)
  Jorgen Vestbo (21)
  David A. Lomas (22)
  John Connett (23)
  Robert A. Wise (1)
  Enid R. Neptune (1)
  Rasika A. Mathias (1)
  Peter D. Paré (4)
  Terri H. Beaty (24)
  Kathleen C. Barnes (1) (25)
  
• 刊名：Human Genetics
• 出版年：2013
• 出版时间：January 2013
• 年：2013
• 卷：132
• 期：1
• 页码：79-90
• 全文大小：729KB
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• 作者单位：Nadia N. Hansel (1) (2)
  Ingo Ruczinski (3)
  Nicholas Rafaels (1)
  Don D. Sin (4)
  Denise Daley (4)
  Alla Malinina (1)
  Lili Huang (1)
  Andrew Sandford (4)
  Tanda Murray (1)
  Yoonhee Kim (5)
  Candelaria Vergara (1)
  Susan R. Heckbert (28) (29)
  Bruce M. Psaty (27) (28)
  Guo Li (6)
  W. Mark Elliott (7)
  Farzian Aminuddin (4)
  Josée Dupuis (10) (8)
  George T. O’Connor (10) (9)
  Kimberly Doheny (11)
  Alan F. Scott (11)
  H. Marike Boezen (12) (15)
  Dirkje S. Postma (13) (15)
  Joanna Smolonska (14) (15)
  Pieter Zanen (16)
  Firdaus A. Mohamed Hoesein (16)
  Harry J. de Koning (17)
  Ronald G. Crystal (18)
  Toshiko Tanaka (19)
  Luigi Ferrucci (19)
  Edwin Silverman (20)
  Emily Wan (20)
  Jorgen Vestbo (21)
  David A. Lomas (22)
  John Connett (23)
  Robert A. Wise (1)
  Enid R. Neptune (1)
  Rasika A. Mathias (1)
  Peter D. Paré (4)
  Terri H. Beaty (24)
  Kathleen C. Barnes (1) (25)
  
  1. Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD, USA
  2. Department of Environmental Health Sciences, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA
  3. Department of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA
  4. Division of Respirology, Department of Medicine, James Hogg Research Centre, St Paul’s Hospital, University of British Columbia, Vancouver, BC, Canada
  5. Inherited Disease Research Branch, National Human Genome Research Institute, NIH, Baltimore, MD, USA
  28. Group Health Research Institute, Group Health Cooperative, Seattle, WA, USA
  29. Department of Epidemiology, Cardiovascular Health Research Unit, University of Washington, Seattle, WA, USA
  27. Departments of Medicine, Epidemiology and Health Services, Cardiovascular Health Research Unit, University of Washington, Seattle, WA, USA
  6. Department of Medicine, Cardiovascular Health Research Unit, University of Washington, Seattle, WA, USA
  7. Department of Pathology and Laboratory Medicine, James Hogg Research Centre, St Paul’s Hospital, University of British Columbia, Vancouver, BC, Canada
  10. The National Heart, Lung, and Blood Institute’s Framingham Heart Study, Framingham, MA, USA
  8. Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA
  9. Pulmonary Center, Department of Medicine, Boston University School of Medicine, Boston, MA, USA
  11. Center for Inherited Disease Research (CIDR), Johns Hopkins University, Baltimore, MD, USA
  12. Department of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
  15. Department of Genetics, GRIAC Research Institute, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
  13. Department of Pulmonology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
  14. Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
  16. Division of Heart and Lungs, University Medical Centre Utrecht, Utrecht, The Netherlands
  17. Department of Public Health, Erasmus Medical Centre, Rotterdam, The Netherlands
  18. Department of Genetic Medicine, Weill Cornell Medical College, New York, NY, USA
  19. Clinical Research Branch, National Institute on Aging, Baltimore, MD, USA
  20. Channing Laboratory, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, USA
  21. University of Copenhagen, Hvidovre Hospital, Hvidovre, Denmark
  22. Department of Medicine, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
  23. Division of Biostatistics, School of Public Health, University of Minnesota, St. Paul, MN, USA
  24. Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA
  25. The Johns Hopkins Asthma and Allergy Center, 5501 Hopkins Bayview Circle, Room 3A.62A, Baltimore, MD, 21224, USA
  
• ISSN：1432-1203

文摘

Accelerated lung function decline is a key COPD phenotype; however, its genetic control remains largely unknown. We performed a genome-wide association study using the Illumina Human660W-Quad v.1_A BeadChip. Generalized estimation equations were used to assess genetic contributions to lung function decline over a 5-year period in 4,048 European American Lung Health Study participants with largely mild COPD. Genotype imputation was performed using reference HapMap II data. To validate regions meeting genome-wide significance, replication of top SNPs was attempted in independent cohorts. Three genes (TMEM26, ANK3 and FOXA1) within the regions of interest were selected for tissue expression studies using immunohistochemistry. Two intergenic SNPs (rs10761570, rs7911302) on chromosome 10 and one SNP on chromosome 14 (rs177852) met genome-wide significance after Bonferroni. Further support for the chromosome 10 region was obtained by imputation, the most significantly associated imputed SNPs (rs10761571, rs7896712) being flanked by observed markers rs10761570 and rs7911302. Results were not replicated in four general population cohorts or a smaller cohort of subjects with moderate to severe COPD; however, we show novel expression of genes near regions of significantly associated SNPS, including TMEM26 and FOXA1 in airway epithelium and lung parenchyma, and ANK3 in alveolar macrophages. Levels of expression were associated with lung function and COPD status. We identified two novel regions associated with lung function decline in mild COPD. Genes within these regions were expressed in relevant lung cells and their expression related to airflow limitation suggesting they may represent novel candidate genes for COPD susceptibility.