Functional polymorphisms in pigmentation-related genes <i>MC1R</i> and <i>DCT</i> display population-specific association with wet age-related macular degeneration.

ABSTRACT: Age-related macular degeneration (AMD) is among the leading causes of vision loss. Factors increasing the risk of AMD include aging, smoking, cardiovascular diseases and heritability. Although melanin pigment is known to protect retinal homeostasis, the link between pigmentation-related genes and AMD is unclear. We investigated associations between 26 variations in six pigmentation-related genes and wet AMD risk in a Finnish population, followed by replication in the United Kingdom (UK), Hungarian and Polish cohorts, totaling 775 patients and 959 controls. Associations of genetic components with smoking and body mass index (BMI) were tested in the Finnish and UK cohorts. The functionality of candidate variants in human retinal pigment epithelial (RPE) cells was evaluated using gene promote

SUBMITTER: Reinisalo M 

PROVIDER: S-EPMC12905695 | biostudies-literature | 2026 Mar

REPOSITORIES: biostudies-literature