Metabolic and Genetic Alterations in Early and Exudative Age-Related Macular Degeneration: Inosine, Amino Acids, and COL2A1 Gene Variant.

doi:10.3390/ijms27083697

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Metabolic and Genetic Alterations in Early and Exudative Age-Related Macular Degeneration: Inosine, Amino Acids, and COL2A1 Gene Variant.

International journal of molecular sciences - 21 Apr 2026

Bruzaite Akvile, Vilkeviciute-Petraite Alvita, Cebatoriene Dzastina, Zaliuniene Dalia, Ciapiene Ieva, Smalinskiene Alina, Kriauciuniene Loresa, Liutkeviciene Rasa

Abstract excerpt

Age-related macular degeneration (AMD) is a complex retinal disease influenced by genetic and metabolic factors. Genetic variants impact disease susceptibility, while alterations in amino acid and purine metabolism are involved in AMD development. This study aimed to examine the association between the COL2A1 rs1635529 polymorphism and AMD, as well as its relation to specific metabolites. The study comprised 919...

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PMID: 42074336
DOI: 10.3390/ijms27083697
PMCID: PMC13116423

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COL2A1

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