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Analysis of Associations of Polymorphic Loci of the LOXL1 Gene with the Development of Primary Open-Angle Glaucoma in Women of the Central Chernozem Region of Russia

Abstract

A replicative study of associations of the LOXL1 gene polymorphism with primary open-angle glaucoma (POAG) in the female population of the Central Chernozem region of Russia was performed. The work was done in the design “patients–control.” The study sample consisted of 290 women with POAG and 220 women in the control group. Three polymorphic loci of the LOXL1 gene (rs2165241, rs4886776, rs893818) were genotyped by PCR (Tag-Man probe technology). The study revealed that SNPs of the LOXL1 gene (rs2165241, rs4886776, rs893818) are associated with POAG in women of the Central Chernozem region of Russia: allele C of rs2165241 (OR = 0.33–0.45 at pperm ≤ 0.0005), alleles A of rs4886776 (OR = 0.62–0.63 at pperm ≤ 0.031) and rs893818 (OR = 0.53–0.62 at pperm ≤ 0.007), and the CAA haplotype of rs2165241–rs4886776–rs893818 (OR = 0.56 at pperm = 0.022) are protective for the development of the disease, and the TGG haplotype (OR = 2.19 at pperm = 0.001) is associated with an increased risk of developing POAG in women.

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Correspondence to M. I. Churnosov.

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Eliseeva, N.V., Ponomarenko, I.V. & Churnosov, M.I. Analysis of Associations of Polymorphic Loci of the LOXL1 Gene with the Development of Primary Open-Angle Glaucoma in Women of the Central Chernozem Region of Russia. Russ J Genet 58, 205–210 (2022). https://doi.org/10.1134/S1022795422020041

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Keywords:

  • LOXL1
  • associations
  • primary open-angle glaucoma
  • polymorphism
  • women