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Retina

Research reveals genetic links to AMD severity and key high-risk characteristics

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Genetic risk factors play a significant role in predicting the severity of age-related macular degeneration (AMD) and its high-risk features, according to a study.

The study included 4016 participants aged >50 of European descent. The researchers analyzed genetic risk scores (GRS) and pathway-specific subscores derived from a large genome-wide association study on AMD. These subscores were categorized based on gene-pathways related to complement, extracellular matrix (ECM) remodeling, and lipid metabolism. Logistic and multinomial regression methods were used to evaluate associations with AMD stages and features such as reticular pseudodrusen (RPD) and large drusen area (LDA).

Findings revealed that a higher GRS correlated with more severe AMD stages and specific high-risk features. The overall GRS was linked to both RPD and LDA. Complement and ECM subscores were associated with RPD, but only the complement subscore showed a significant relationship with LDA.

Reference
Garzone D, Imtiaz MA, Mauschitz MM, et al. Age-Related Macular Degeneration and Its Genetic Risk: A Population-based Study. Curr Eye Res. 2024;1-5. doi: 10.1080/02713683.2024.2388692. Epub ahead of print. PMID: 39155542.

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