Article
An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access.
PloS one - 1 Jan 2022
Jones Amy V, Curtiss Darin, Harris Claire, Southerington Tom, Hautalahti Marco, Wihuri Pauli, Mäkelä Johanna, Kallionpää Roosa E, Makkonen Enni, Knopp Theresa, Mannermaa Arto, Mäkinen Erna, Moilanen Anne-Mari, Tezel Tongalp H, Waheed Nadia K
Abstract excerpt
PURPOSE: Advanced age-related macular degeneration (AAMD) risk is associated with rare complement Factor I (FI) genetic variants associated with low FI protein levels (termed 'Type 1'), but it is unclear how variant prevalences differ between AMD patients from different ethnicities. METHODS: Collective prevalence of Type 1 CFI rare variant genotypes were examined in four European AAMD datasets. Collective minor...
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