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    This study aimed to investigate the role of functionally significant polymorphisms of the MMP-1, MMP-3, and MMP-9 genes in the development of exfoliation glaucoma (XFG) in the Caucasian population of Central Russia. The study sample consisted of 724 participants, including 328 patients with XFG and 396 individuals in the control group. The participants were of Russian ethnicity (self-reported) born in Central Russia. The participants were genotyped at eight functionally significant polymorphisms of the MMP genes (rs3918242, rs3918249, rs17576, rs3787268, rs2250889, rs17577 MMP9, rs679620 MMP3, and rs1799750 MMP1). The association analysis was performed using logistic regression. Two polymorphisms, which were associated with XFG, and 12 polymorphisms linked to them (r2≥0.8) were analyzed for their functional significance in silico. Allele C of rs3918249 MMP9 was associated with XFG according to the additive model (OR = 0.75, 95% CI 0.56-0.93, pperm = 0.015), and allele G of the rs2250889 MMP9 locus was associated with XFG according to the additive (OR = 1.59, 95% CI 1.10-2.29, pperm = 0.013) and dominant (OR = 1.68, 95% CI 1.11- 2.56, рperm = 0.016) models. Two XFG-associated loci of the MMP9 gene и 12 SNPs linked to them had a significant regulatory potential (they are located in the evolutionarily conserved regions, promoter and enhancer histone marks, the DNAase- hypersensitivity regions, a region binding to regulatory protein and a region of regulatory motifs) and may influence the expression of 13 genes and alternative splicing of four genes in various tissues and organs related to the pathogenesis of XFG. Allele C rs3918249 MMP9 decreased risk for XFG (OR = 0.75) and allele G of the rs2250889 MMP9 locus increased risk for XFG (OR = 1.59-1.68) in the Caucasian population of Central Russia. © 2020 S. Karger AG, Basel.

    Citation

    Dina Starikova, Irina Ponomarenko, Evgeny Reshetnikov, Volodymyr Dvornyk, Mikhail Churnosov. Novel data about association of the functionally significant polymorphisms of the MMP-9 gene with exfoliation glaucoma in the Caucasian population of Central Russia. Ophthalmic research. 2020 Oct 23


    PMID: 33099542

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