Journal Article

The COPD genetic association compendium: a comprehensive online database of COPD genetic associations

Peter J. Castaldi, Michael H. Cho, Matthew Cohn, Fawn Langerman, Sienna Moran, Nestor Tarragona, Hala Moukhachen, Radhika Venugopal, Delvina Hasimja, Esther Kao, Byron Wallace, Craig P. Hersh, Sachin Bagade, Lars Bertram, Edwin K. Silverman and Thomas A. Trikalinos

in Human Molecular Genetics

Volume 19, issue 3, pages 526-534
Published in print February 2010 | ISSN: 0964-6906
Published online November 2009 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddp519
The COPD genetic association compendium: a comprehensive online database of COPD genetic associations

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Chronic obstructive pulmonary disease (COPD) is a major cause of morbidity and mortality worldwide. COPD is thought to arise from the interaction of environmental exposures and genetic susceptibility, and major research efforts are underway to identify genetic determinants of COPD susceptibility. With the exception of SERPINA1, genetic associations with COPD identified by candidate gene studies have been inconsistently replicated, and this literature is difficult to interpret. We conducted a systematic review and meta-analysis of all population-based, case–control candidate gene COPD studies indexed in PubMed before 16 July 2008. We stored our findings in an online database, which serves as an up-to-date compendium of COPD genetic associations and cumulative meta-analysis estimates. On the basis of our systematic review, the vast majority of COPD candidate gene era studies are underpowered to detect genetic effect odds ratios of 1.2–1.5. We identified 27 genetic variants with adequate data for quantitative meta-analysis. Of these variants, four were significantly associated with COPD susceptibility in random effects meta-analysis, the GSTM1 null variant (OR 1.45, CI 1.09–1.92), rs1800470 in TGFB1 (0.73, CI 0.64–0.83), rs1800629 in TNF (OR 1.19, CI 1.01–1.40) and rs1799896 in SOD3 (OR 1.97, CI 1.24–3.13). In summary, most COPD candidate gene era studies are underpowered to detect moderate-sized genetic effects. Quantitative meta-analysis identified four variants in GSTM1, TGFB1, TNF and SOD3 that show statistically significant evidence of association with COPD susceptibility.

Journal Article.  4643 words.  Illustrated.

Subjects: Genetics and Genomics

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