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Age-related macular degeneration (AMD) is a prevalent degenerative retinal disease characterized by a multifactorial epidemiology and etiology encompassing genetic, environmental, demographic, and geographical influences. Genetic risk variants associated with AMD have been extensively studied, revealing that the overall disease risk is modulated by the combined effects of multiple common genetic variants. In this study, we aimed to analyze the association of genetic risk variations included in the 22-variant polygenic risk score (PRS) model with the retinal thickness of control patients without AMD. The study analyzed genetic data from 334 subjects (237 patients with AMD and 97 controls) to calculate PRS values. Next, the percentage of each genotype was calculated to select specific variants. Good-quality 3D OCT scans from 75 selected subjects in the control group were used for total retinal thickness (TRT) and retinal pigment epithelium (RPE) thickness calculations. The PRS model significantly differentiates patients with AMD from the control group by selecting 22 risk-modifying variants. Seven of those were chosen for further analysis. From them, rs2274700, rs4151667, and rs482934 variants yielded significantly different TRT in tested genotypes. Moreover, variants rs10490924 and rs2736911 showed significant differences in RPE thickness according to compared genotypes. The results showed a potential relationship between retinal thickness and single nucleotide variants in specific genes in individuals from the control group. It indicates the genotype-phenotype association connected with the risk of AMD.

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Retinal Thickness Analysis for Genotype-Phenotype Associations in Age-Related Macular Degeneration Risk Assessment

  • 会议论文

  • 发表日期：

    2025年

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  • Anna Wąsowska,
  • Adam Sendecki,
  • Daniel Ledwoń,
  • Patrycja Romaniszyn-Kania,
  • Aleksandra Tuszy,
  • Julia Nycz,
  • Wojciech Więcławek,
  • Anna Boguszewska-Chachulska,
  • Andrzej W. Mitas,
  • Edward Wylęgała,
  • Sławomir Teper

摘要

Age-related macular degeneration (AMD) is a prevalent degenerative retinal disease characterized by a multifactorial epidemiology and etiology encompassing genetic, environmental, demographic, and geographical influences. Genetic risk variants associated with AMD have been extensively studied, revealing that the overall disease risk is modulated by the combined effects of multiple common genetic variants. In this study, we aimed to analyze the association of genetic risk variations included in the 22-variant polygenic risk score (PRS) model with the retinal thickness of control patients without AMD. The study analyzed genetic data from 334 subjects (237 patients with AMD and 97 controls) to calculate PRS values. Next, the percentage of each genotype was calculated to select specific variants. Good-quality 3D OCT scans from 75 selected subjects in the control group were used for total retinal thickness (TRT) and retinal pigment epithelium (RPE) thickness calculations. The PRS model significantly differentiates patients with AMD from the control group by selecting 22 risk-modifying variants. Seven of those were chosen for further analysis. From them, rs2274700, rs4151667, and rs482934 variants yielded significantly different TRT in tested genotypes. Moreover, variants rs10490924 and rs2736911 showed significant differences in RPE thickness according to compared genotypes. The results showed a potential relationship between retinal thickness and single nucleotide variants in specific genes in individuals from the control group. It indicates the genotype-phenotype association connected with the risk of AMD.