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

Awadalla MS, Burdon KP, Kuot A, Hewitt AW, Craig JE - Mol. Vis. (2011)

Bottom Line: A total of 107 Australian patients with PACG and 288 age and sex-matched controls were included in the current study.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.Further replication will be helpful in confirming this finding before future clinical translation.

View Article: PubMed Central - PubMed

Affiliation: Ophthalmology Department, Flinders University, Adelaide, South Australia, Australia.

ABSTRACT

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.

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Related in: MedlinePlus

MMP9 gene schematic representation, indicating tag SNP location. Exons are indicated by boxes and joined by introns indicated by solid lines. Figure adapted from the HapMap website.
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f1: MMP9 gene schematic representation, indicating tag SNP location. Exons are indicated by boxes and joined by introns indicated by solid lines. Figure adapted from the HapMap website.

Mentions: Three hundred-ninety five Australian participants, consisting of 107 PACG cases with a mean age of 76±8.2 (females 67% and males 33%), and 288 healthy controls with mean age 69±11.2 (females 53% and males 47%) were genotyped. A total of five SNPs were genotyped at the MMP9 locus, with the physical location presented in Figure 1. All five SNPs conformed to Hardy–Weinberg equilibrium (p>0.05).


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

Awadalla MS, Burdon KP, Kuot A, Hewitt AW, Craig JE - Mol. Vis. (2011)

MMP9 gene schematic representation, indicating tag SNP location. Exons are indicated by boxes and joined by introns indicated by solid lines. Figure adapted from the HapMap website.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3108894&req=5

f1: MMP9 gene schematic representation, indicating tag SNP location. Exons are indicated by boxes and joined by introns indicated by solid lines. Figure adapted from the HapMap website.
Mentions: Three hundred-ninety five Australian participants, consisting of 107 PACG cases with a mean age of 76±8.2 (females 67% and males 33%), and 288 healthy controls with mean age 69±11.2 (females 53% and males 47%) were genotyped. A total of five SNPs were genotyped at the MMP9 locus, with the physical location presented in Figure 1. All five SNPs conformed to Hardy–Weinberg equilibrium (p>0.05).

Bottom Line: A total of 107 Australian patients with PACG and 288 age and sex-matched controls were included in the current study.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.Further replication will be helpful in confirming this finding before future clinical translation.

View Article: PubMed Central - PubMed

Affiliation: Ophthalmology Department, Flinders University, Adelaide, South Australia, Australia.

ABSTRACT

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.

Show MeSH
Related in: MedlinePlus