Elkington, Paul T. and Cooke, Graham S.
MMP12, lung function, and COPD in high-risk populations
New England Journal of Medicine, 362, (13), . (PMID:20018959).
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Hunninghake et al. (Dec. 31 issue)1 report an association between single-nucleotide polymorphisms (SNPs) in MMP12 and lung function in children with asthma and in adults who smoke, as well as an association with a reduced risk of chronic obstructive pulmonary disease (COPD) in adult smokers. However, a statistical genetic association may be observed when the implicated SNP is in strong linkage disequilibrium with another ungenotyped, but “causative,” SNP, often one that is in close proximity to the implicated SNP. To determine whether their findings could be explained by linkage disequilibrium, the authors present data for neighboring genes MMP3 and MMP13. Surprisingly, the authors did not present data for MMP1 (encoding interstitial collagenase), which is adjacent to MMP3 on chromosome 11 and is closer to MMP12 than is MMP13. Moreover, MMP1 has been strongly implicated in the pathogenesis of both COPD2 and asthma.3 It is a testable hypothesis that MMP1 encodes the protease that drives lung pathology. The association described by Hunninghake et al. could be attributable to SNPs within MMP1.
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