Assessment of the association of matrix metalloproteinases with myopia, refractive error and ocular biometric measures in an Australian cohort

PLoS One. 2012;7(10):e47181. doi: 10.1371/journal.pone.0047181. Epub 2012 Oct 15.

Abstract

Extracellular matrix proteins have been implicated in protein remodelling of the sclera in refractive error. The matrix metalloproteinases (MMPs) falling into the collagenase (MMP1, MMP8, MMP13), gelatinase (MMP2, MMP9) and stromelysin (MMP3, MMP10, MMP11) functional groups are particularly important. We wished to assess their association with myopia, refractive error and ocular biometric measures in an Australian cohort. A total of 543 unrelated individuals of Caucasian ethnicity were genotyped including 269 myopes (≤-1.0D) and 274 controls (>-1.0D). Tag single nucleotide polymorphisms (SNPs) (n = 53) were chosen to encompass these eight MMPs. Association tests were performed using linear and logistic regression analysis with age and gender as covariates. Spherical equivalent, myopia, axial length, anterior chamber depth and corneal curvature were the phenotypes of interest. Initial findings indicated that the best p values for each trait were 0.02 for myopia at rs2274755 (MMP9), 0.02 for SE at both rs3740938 (MMP8) and rs131451 (MMP11), 0.01 for axial length at rs11225395 (MMP8), 0.01 for anterior chamber depth at rs498186 (MMP1) and 0.02 at rs10488 (MMP1). However, following correction for multiple testing, none of these SNPs remained statistically significant. Our data suggests that the MMPs in the collagenase, gelatinase and stromelysin categories do not appear to be associated with myopia, refractive error or ocular biometric measures in this cohort.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Australia
  • Biometry
  • Cohort Studies
  • Eye / enzymology*
  • Eye / metabolism
  • Eye / pathology
  • Female
  • Humans
  • Male
  • Matrix Metalloproteinases / genetics*
  • Middle Aged
  • Myopia / enzymology*
  • Myopia / genetics
  • Myopia / pathology
  • Polymorphism, Single Nucleotide*
  • Refractive Errors / enzymology*
  • Refractive Errors / genetics
  • Refractive Errors / pathology

Substances

  • Matrix Metalloproteinases

Grants and funding

Funding for this work came from the National Health and Medical Research Council (NHMRC) Canberra, Australia through the Centre for Clinical Research Excellence in Translational Clinical Research in Eye Diseases (grant no.: 529923) and an NHMRC research fellowship to PNB (No. 1028444). The Centre for Eye Research Australia receives Operational Infrastructure Support from the Victorian Government. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.