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Myopia and polymorphisms in genes for matrix metalloproteinases.
Nigel F Hall1, Catharine R Gale, Shu Ye
1MRC Epidemiology Resource Centre, University of Southampton, Southampton General Hospital, Southampton, United Kingdom. nigel.hall@doctors.org.uk
Investigative Ophthalmology & Visual Science
|March 13, 2009
Summary
Genetic variations in matrix metalloproteinase (MMP) genes, specifically MMP-3 and MMP-9, are linked to an increased risk of myopia. These gene variations influence scleral extensibility, potentially contributing to myopia development.
Area of Science:
- Ophthalmology
- Genetics
- Biochemistry
Background:
- Myopia, or nearsightedness, is a common refractive error.
- Scleral extensibility plays a role in refractive error development.
- Matrix metalloproteinases (MMPs) are enzymes involved in extracellular matrix degradation.
Purpose of the Study:
- To investigate the association between myopia and genetic variations in MMP-1, MMP-3, and MMP-9 genes.
- To determine if MMP gene polymorphisms affect scleral extensibility and contribute to myopia.
Main Methods:
- Genotyping of 366 individuals for MMP-1 (1G/2G), MMP-3 (5A/6A), and MMP-9 (Arg/Gln) polymorphisms.
- Assessment of refractive error in study participants.
- Statistical analysis using odds ratios and confidence intervals.
Main Results:
- Homozygosity for the MMP-3 5A allele increased myopia risk (OR, 3.1; 95% CI, 1.1-9.0).
- Homozygosity for the MMP-9 Gln allele increased myopia risk (OR, 2.8; 95% CI, 1.1-7.0).
- A progressive increase in myopia risk was observed with increasing doses of these alleles, exceeding a 10-fold difference.
Conclusions:
- Common variations in MMP genes, particularly MMP-3 and MMP-9, may contribute to the pathogenesis of simple myopia.
- These genetic variations influence matrix protein breakdown in the sclera, impacting refractive error.
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