Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population
Purpose: To investigate the association between genetic variation at the matrix metalloproteinase-9 (MMP9) locus and primary angle closure glaucoma (PACG) in an Australian Caucasian population.
Methods: A total of 107 Australian patients with PACG and 288 age and sex-matched controls were included in the current study. Tag single nucleotide polymorphisms (SNPs) were selected and genotyped to cover the majority of common variation within MMP9. Allele, genotype and haplotype association analyses were conducted using PLINK.
Results: Two SNPs from MMP9, rs3918249 and rs17576 were significantly associated under the allelic model with p values of 0.006 for both SNPs. In addition, haplotype analysis revealed a protective haplotype TACGG to be significantly more frequent in controls (69%) than in PACG cases (59%), with p=0.006.
Conclusions: This study demonstrates an association between MMP9 SNPs rs3918249 and rs17576 and PACG in the Australian population, suggesting MMP9 may be involved in the pathogenesis of this blinding disease. Further replication will be helpful in confirming this finding before future clinical translation.
Publication titleMolecular Vision
Department/SchoolMenzies Institute for Medical Research
Place of publicationLab B, 5500 Emory Eye Center, 1327 Clifton Rd, N E, Atlanta, USA, Ga, 30322
Rights statementCopyright 2011 Molecular Vision-available with a Creative Commons Attribution-NonCommercial-NoDerivatives License 3.0, or CC BY-NC-ND 3.0 (see http://creativecommons.org/licenses/by-nc-nd/3.0/ for license terms)