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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

The haplotype block structure of the tag SNPs of MMP9. The number in the box represents the r2 value. Values in light blue boxes do not reach statistical significance.
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f2: The haplotype block structure of the tag SNPs of MMP9. The number in the box represents the r2 value. Values in light blue boxes do not reach statistical significance.

Mentions: Analysis of the linkage disequilibrium structure between the five tag SNPs showed one haplotype block (Figure 2). Haplotype analysis revealed three common haplotypes in this population. The frequency of TACGG was significantly higher in controls (69%) than in PACG cases (59%), p=0.006, and remained significant after Bonferroni correction for the three haplotypes observed (p=0.018). The CGCGA haplotype was more frequent in PACG cases than controls (17% versus 11% respectively, p=0.035), but did not remain significant following multiple testing correction (corrected p=0.105) (Table 3).


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)

The haplotype block structure of the tag SNPs of MMP9. The number in the box represents the r2 value. Values in light blue boxes do not reach statistical significance.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f2: The haplotype block structure of the tag SNPs of MMP9. The number in the box represents the r2 value. Values in light blue boxes do not reach statistical significance.
Mentions: Analysis of the linkage disequilibrium structure between the five tag SNPs showed one haplotype block (Figure 2). Haplotype analysis revealed three common haplotypes in this population. The frequency of TACGG was significantly higher in controls (69%) than in PACG cases (59%), p=0.006, and remained significant after Bonferroni correction for the three haplotypes observed (p=0.018). The CGCGA haplotype was more frequent in PACG cases than controls (17% versus 11% respectively, p=0.035), but did not remain significant following multiple testing correction (corrected p=0.105) (Table 3).

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