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.
Highlights
Refractive errors such as myopia are a group of common ocular disorders that result in blurred vision
This definition of myopia was used to reflect that used in the Hall et al study (2009) which is currently the only other study that assessed matrix metalloproteinases (MMPs) for an association with myopia
Our study has undertaken a detailed genetic analysis into the association of the gelatinase, collagenase and stromelysin groups of MMPs in myopia and refractive error. More importantly this is the first study to assess associations of these MMPs in the ocular biometric measures of axial length, anterior chamber depth and corneal curvature. To date this is the most comprehensive study into this group of MMPs that has been undertaken whereas previous studies were more limited, in that only selected variants were chosen or there was no analysis of endophenotypes
Summary
Refractive errors such as myopia are a group of common ocular disorders that result in blurred vision. SE is commonly used, both in the clinic and academia, to define the overall refractive status of the eye and determine the nature and degree of refractive error [1]. The overall refractive status of the eye is influenced by a number of underlying components including ocular axial length, corneal curvature and lens thickness [2]. Assessment of the determinants of refractive errors must include SE measures and ocular biometric measures if we are to gain a better overall understanding of refractive error [3]. Often, such measures are lacking in many studies
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