The Association of Single-Nucleotide Polymorphisms in the MMP-9 Gene with Normal Tension Glaucoma and Primary Open-Angle Glaucoma

ABSTRACT

Purpose: To evaluate the association of matrix metalloproteinases (MMP)-9 gene polymorphisms with normal tension glaucoma (NTG) and primary open-angle glaucoma (POAG) in the South Korean population.

Materials and Methods: A total of 700 South Korean subjects were recruited: 146 patients with NTG, 174 patients with POAG, and 380 healthy adults. Five single-nucleotide polymorphisms (SNPs; rs3918429, rs2274755, rs3787268, rs3918261, and rs3918270) of MMP-9 were analyzed in all subjects. The association with each disease was tested using an allelic χ² test and p values were corrected by permutation tests with 100 000 permutations.

Results: Among the five SNPs, rs2274755 showed a significant association with NTG (p = 0.021). The T allele of rs2274755 had an allelic odds ratio of 1.67 (95% confidence interval, 1.12–2.50). The association remained significant after correction using permutation tests (p = 0.039). It was also significant in an association analysis for genotype frequency (p = 0.011). The SNP was predicted to be found within a splicing site and a conserved region. No SNPs analyzed were significantly associated with POAG (p > 0.05).

Conclusions: The rs2274755 SNP in the MMP-9 gene was significantly associated with NTG. This supports a possible role of the MMP-9 gene in NTG pathogenesis.

KEYWORDS:

• Glaucoma
• gene
• intraocular pressure
• matrix metalloproteinases
• allele

Acknowledgments

Not applicable.

Supplemental data

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Funding

The study was funded by grants from the Samsung Biomedical Research Institute (#SBRI CB02072) and the National Research Foundation of Korea (NRF) funded by the Korean government (MSIP) (No. 2016R1C1B2007920).

Competing interests

The authors indicate no financial support or financial conflicts of interest.

Additional information

Funding

The study was funded by grants from the Samsung Biomedical Research Institute (#SBRI CB02072) and the National Research Foundation of Korea (NRF) funded by the Korean government (MSIP) (No. 2016R1C1B2007920).