26Nov 2022
Common and rare genetic risk variants in age‐related macular degeneration and genetic risk score in the Coimbra eye study

Common and rare genetic risk variants in age‐related macular degeneration and genetic risk score in the Coimbra eye study

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.

  • #ophthalmology

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