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

Acta ophthalmologica - 1 Mar 2023

Farinha Cláudia, Barreto Patricia, Coimbra Rita, Cachulo Maria Luz, Melo Joana Barbosa, Cunha-Vaz José, Lechanteur Yara, Hoyng Carel B, Silva Rufino

Abstract excerpt

PURPOSE: 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). METHODS: Participants underwent ophthalmologic examination and imaging. A centralized reading centre performed AMD staging. Genetic sequencing was carried out with the EYE-RISK assay. Sixty-nine single...

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PMID: 36036675
DOI: 10.1111/aos.15232

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