Human Genetics

, Volume 131, Issue 7, pp 1105–1114

Genetic association between human chitinases and lung function in COPD

  • F. Aminuddin
  • L. Akhabir
  • D. Stefanowicz
  • P. D. Paré
  • J. E. Connett
  • N. R. Anthonisen
  • J. V. Fahy
  • M. A. Seibold
  • E. G. Burchard
  • C. Eng
  • A. Gulsvik
  • P. Bakke
  • M. H. Cho
  • A. Litonjua
  • D. A. Lomas
  • W. H. Anderson
  • T. H. Beaty
  • J. D. Crapo
  • E. K. Silverman
  • A. J. Sandford
Original Investigation

DOI: 10.1007/s00439-011-1127-1

Cite this article as:
Aminuddin, F., Akhabir, L., Stefanowicz, D. et al. Hum Genet (2012) 131: 1105. doi:10.1007/s00439-011-1127-1

Abstract

Two primary chitinases have been identified in humans—acid mammalian chitinase (AMCase) and chitotriosidase (CHIT1). Mammalian chitinases have been observed to affect the host’s immune response. The aim of this study was to test for association between genetic variation in the chitinases and phenotypes related to chronic obstructive pulmonary disease (COPD). Polymorphisms in the chitinase genes were selected based on previous associations with respiratory diseases. Polymorphisms that were associated with lung function level or rate of decline in the Lung Health Study (LHS) cohort were analyzed for association with COPD affection status in four other COPD case–control populations. Chitinase activity and protein levels were also related to genotypes. In the caucasian LHS population, the baseline forced expiratory volume in one second (FEV1) was significantly different between the AA and GG genotypic groups of the AMCase rs3818822 polymorphism. Subjects with the GG genotype had higher AMCase protein and chitinase activity compared with AA homozygotes. For CHIT1 rs2494303, a significant association was observed between rate of decline in FEV1 and the different genotypes. In the African American LHS population, CHIT1 rs2494303 and AMCase G339T genotypes were associated with rate of decline in FEV1. Although a significant effect of chitinase gene alleles was found on lung function level and decline in the LHS, we were unable to replicate the associations with COPD affection status in the other COPD study groups.

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • F. Aminuddin
    • 1
  • L. Akhabir
    • 1
  • D. Stefanowicz
    • 1
  • P. D. Paré
    • 1
  • J. E. Connett
    • 2
  • N. R. Anthonisen
    • 3
  • J. V. Fahy
    • 4
  • M. A. Seibold
    • 5
  • E. G. Burchard
    • 6
  • C. Eng
    • 6
  • A. Gulsvik
    • 7
  • P. Bakke
    • 7
  • M. H. Cho
    • 8
  • A. Litonjua
    • 8
  • D. A. Lomas
    • 9
  • W. H. Anderson
    • 10
  • T. H. Beaty
    • 11
  • J. D. Crapo
    • 5
  • E. K. Silverman
    • 12
  • A. J. Sandford
    • 1
  1. 1.James Hogg Research Centre, Providence Heart and Lung Institute, St. Paul’s HospitalThe University of British ColumbiaVancouverCanada
  2. 2.Division of BiostatisticsUniversity of MinnesotaMinneapolisUSA
  3. 3.Faculty of MedicineUniversity of ManitobaWinnipegCanada
  4. 4.Department of Medicine, Howard Hughes Medical InstituteUniversity of CaliforniaSan FranciscoUSA
  5. 5.Department of MedicineNational Jewish HealthDenverUSA
  6. 6.Department of Bioengineering and Therapeutic Sciences, Lung Biology Center, Institute for Human GeneticsUniversity of CaliforniaSan FranciscoUSA
  7. 7.Haukeland University Hospital and Institute of MedicineUniversity of BergenBergenNorway
  8. 8.Channing Laboratory and Division of Pulmonary and Critical Care Medicine, Department of MedicineBrigham and Women’s Hospital and Harvard Medical SchoolBostonUSA
  9. 9.Cambridge Institute for Medical ResearchUniversity of CambridgeCambridgeUK
  10. 10.GlaxoSmithKline Research and DevelopmentDurhamUSA
  11. 11.Johns Hopkins School of Public HealthBaltimoreUSA
  12. 12.Channing Laboratory and Pulmonary and Critical Care Division, Brigham and Women’s HospitalHarvard Medical SchoolBostonUSA

Personalised recommendations