
To determine the contribution of common and rare genetic variants in age‐related macular degeneration (AMD) in a Portuguese population from the Coimbra Eye Study (CES) and the genetic risk score (GRS). In case-control analysis (237 cases/640 controls), variants associated with risk of disease were: ARMS2 rs10490924, ARMS2_HTRA1 rs3750846, CFH rs35292876, SLC16A8 rs8135665, TGFBR1 rs1626340. Both standard and rare variants were associated with AMD, but a CFH rare variant conferred the highest disease risk. In contrast, three major risk variants had a lower‐than‐expected AF in our population originary from a geographic region with a lower prevalence of AMD. GRS was still significantly higher in AMD patients. Damaging CFH rare variants were cumulatively more common in AMD cases.
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