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Published ahead of print on April 7, 2005, doi:10.1165/rcmb.2005-0073OC

Am. J. Respir. Cell Mol. Biol., Volume 33, Number 1, July 2005, 71-78

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Submitted on February 18, 2005
Revised on April 7, 2005

Attempted Replication of Reported Chronic Obstructive Pulmonary Disease Candidate Gene Associations

Craig P Hersh1, Dawn L DeMeo1, Christoph Lange2, Augusto A Litonjua3, John J Reilly4, David Kwiatkowski5, Nan Laird2, Jody S Sylvia6, David Sparrow7, Frank E Speizer3, Scott T Weiss3, and Edwin K Silverman1*

1 Channing Laboratory, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA; Pulmonary and Critical Care Division, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA, 2 Department of Biostatistics, Harvard School of Public Health, Boston, MA, USA, 3 Channing Laboratory, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA, 4 Pulmonary and Critical Care Division, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA, 5 Hematology/Oncology Division, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA, 6 Channing Laboratory, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA, 7 Channing Laboratory, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Veterans Affairs Medical Center, Boston, MA, USA

* To whom correspondence should be addressed. E-mail: ed.silverman{at}channing.harvard.edu.

Case-control studies have successfully identified many significant genetic associations for complex diseases, but lack of replication has been a criticism of case-control genetic association studies in general. We selected 12 candidate genes with reported associations to chronic obstructive pulmonary disease (COPD) and genotyped 19 polymorphisms in a family-based study and in a case-control study. In the Boston Early-Onset COPD Study families, significant associations with quantitative and qualitative COPD-related phenotypes were found for the Tumor Necrosis Factor alpha (TNF) -308G>A promoter polymorphism (p<0.02), a coding variant in Surfactant Protein B (SFTPB Thr131Ile) (p=0.03), and the (GT)31 allele of the Heme Oxygenase (HMOX1) promoter short tandem repeat (p=0.02). In the case-control study, the SFTPB Thr131Ile polymorphism was associated with COPD, but only in the presence of a gene-by-environment interaction term (p=0.01 for both main effect and interaction). The 30-repeat, but not the 31-repeat, allele of HMOX1 was associated (p=0.04). The TNF -308G>A polymorphism was not significant. In addition, the Microsomal Epoxide Hydrolase "fast" allele (EPHX1 His139Arg) was significantly associated only in the case-control study (p=0.03). Although some evidence for replication was found for SFTPB and HMOX1, none of the previously published COPD genetic associations was convincingly replicated across both study designs.




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