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Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population

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posted on 2023-05-17, 23:49 authored by Awadalla, MS, Kathryn BurdonKathryn Burdon, Kuot, A, Alexander HewittAlexander Hewitt, Craig, JE

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.

History

Publication title

Molecular Vision

Volume

17

Pagination

1420-1424

ISSN

1090-0535

Department/School

Menzies Institute for Medical Research

Publisher

Molecular Vision

Place of publication

Lab B, 5500 Emory Eye Center, 1327 Clifton Rd, N E, Atlanta, USA, Ga, 30322

Rights statement

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)

Repository Status

  • Open

Socio-economic Objectives

Clinical health not elsewhere classified

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