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<p>Diabetic retinopathy (DR) is one of the most common microvascular complications of diabetes mellitus and a leading cause of visual impairment among adults worldwide. While hyperglycemia and metabolic dysregulation are recognized contributors to DR pathogenesis, increasing attention has been directed toward the role of genetic factors. This review evaluates the association between specific single nucleotide polymorphisms (SNPs) and DR susceptibility within the Greek population, an underrepresented group in global genomic studies. The review synthesizes findings from population-specific research focused on eight genes, namely, <i>ADIPOQ</i>, <i>AGER</i>, <i>ALDH2</i>, <i>UCHL3</i>, <i>HNMT</i>, PAI-1 (<i>SERPINE1</i>), <i>SLC2A1</i>, and <i>NOS3</i>. Variants in these genes have been implicated in key pathways related to inflammation, oxidative stress, endothelial dysfunction, and glucose metabolism. Several polymorphisms, including <i>ADIPOQ</i> rs1501299, <i>AGER</i> rs1051993, <i>ALDH2</i> rs671, and <i>NOS3</i> rs1799983, were associated with increased DR risk, while others showed associations with disease progression or early onset. Importantly, some polymorphisms revealed ethnic-specific effects not observed in other populations, highlighting the importance of localized genetic studies. These findings are hypothesis-generating and further research is required to replicate these associations, clarify underlying mechanisms, and assess gene-environment interactions before considering any potential clinical translation.</p>

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Genetic risk factors for diabetic retinopathy in the Greek population: a review of key gene polymorphisms

  • 期刊论文

  • 发表日期：

    2026年7月22日

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  • Nikolaos Gouliopoulos,
  • Maria Arfara,
  • Spyros Sapounas,
  • Alexandros Rouvas,
  • Panagiotis Theodossiadis,
  • Ilias Georgalas,
  • Ioannis Datseris

摘要

Diabetic retinopathy (DR) is one of the most common microvascular complications of diabetes mellitus and a leading cause of visual impairment among adults worldwide. While hyperglycemia and metabolic dysregulation are recognized contributors to DR pathogenesis, increasing attention has been directed toward the role of genetic factors. This review evaluates the association between specific single nucleotide polymorphisms (SNPs) and DR susceptibility within the Greek population, an underrepresented group in global genomic studies. The review synthesizes findings from population-specific research focused on eight genes, namely, ADIPOQ, AGER, ALDH2, UCHL3, HNMT, PAI-1 (SERPINE1), SLC2A1, and NOS3. Variants in these genes have been implicated in key pathways related to inflammation, oxidative stress, endothelial dysfunction, and glucose metabolism. Several polymorphisms, including ADIPOQ rs1501299, AGER rs1051993, ALDH2 rs671, and NOS3 rs1799983, were associated with increased DR risk, while others showed associations with disease progression or early onset. Importantly, some polymorphisms revealed ethnic-specific effects not observed in other populations, highlighting the importance of localized genetic studies. These findings are hypothesis-generating and further research is required to replicate these associations, clarify underlying mechanisms, and assess gene-environment interactions before considering any potential clinical translation.