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Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration

Johanna M. Seddon, Bernard Rosner, Dikha De, Tianxiao Huan, Anuja Java, John P. Atkinson

2022Ophthalmology Science13 citationsDOIOpen Access PDF

Abstract

Purpose: ) genetic variant status and progression to advanced age-related macular degeneration (AAMD), geographic atrophy (GA), and neovascular disease (NV). Design: Prospective, longitudinal study. Participants: variants were categorized using genotyping and sequencing platforms. Methods: rare variants and progression, independent of other genetic variants and covariates. Main Outcome Measures: Progression to AAMD, GA, or NV. Results: carriers (body mass index ≥ 25 vs. < 25; OR = 5.8; 95% CI 1.5, 22.3) but not for noncarriers (OR = 1.1; 95% CI = 0.9, 1.3), with P_interaction = 0.011. Conclusions: variants are at higher risk for progression to AAMD with GA. Financial Disclosures: Proprietary or commercial disclosure may be found after the references.

Topics & Concepts

Macular degenerationDysfunctional familyDegeneration (medical)Factor HComplement (music)Complement systemMedicineComplement factor IGeneticsBiologyOphthalmologyPhenotypeGeneClinical psychologyComplementationAntibodyRetinal Diseases and TreatmentsOphthalmology and Visual Impairment StudiesComplement system in diseases