Age-Related Macular Degeneration and Extramacular Drusen: Genetic Associations in the Coimbra Eye Study.

ABSTRACT:

Purpose

To explore the association between the genetics of age-related macular degeneration (AMD) and extramacular drusen (EMD) in patients with and without AMD.

Methods

We included 1753 eyes (912 subjects) with phenotypic characterization regarding AMD and EMD. Genetic sequencing and the genetic risk score (GRS) for AMD were performed according to the EYE-RISK consortium methodology. To test for differences in the GRS from EMD cases, AMD cases, and controls, a clustered Wilcoxon rank-sum test was used. The association of AMD, EMD, and the GRS was evaluated using logistic regression models adjusted for age and sex. Individual associations of common risk variants for AMD with EMD were explored.

Results

EMD were found in 755 eyes: 252 (14.4%) with AMD and 503 (28.7%) wi

SUBMITTER: Farinha C 

PROVIDER: S-EPMC11127495 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature