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Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population
Awadalla, MS and Burdon, KP and Kuot, A and Hewitt, AW and Craig, JE, Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population, Molecular Vision, 17 pp. 1420-1424. ISSN 1090-0535 (2011) [Refereed Article]
Copyright 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)
Official URL: http://www.molvis.org/molvis/v17/a159
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.
|Item Type:||Refereed Article|
|Research Division:||Biomedical and Clinical Sciences|
|Research Group:||Ophthalmology and optometry|
|Objective Group:||Clinical health|
|Objective Field:||Clinical health not elsewhere classified|
|UTAS Author:||Burdon, KP (Professor Kathryn Burdon)|
|UTAS Author:||Hewitt, AW (Professor Alex Hewitt)|
|Web of Science® Times Cited:||36|
|Deposited By:||Menzies Institute for Medical Research|
|Downloads:||241 View Download Statistics|
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