Additional file 3 of Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease
Additional file 3: Supplementary Figures.
Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease
Abstract Background Advanced age-related macular degeneration (AMD) is a leading cause of blindness. While around half of the genetic contribution to advanced AMD has been uncovered, little is known about the genetic architecture of early AMD. Methods To identify genetic factors for early AMD, we conducted a genome-wide association study (GWAS) meta-analysis (14,034 cases, 91,214 controls, 11 sources of data including the International AMD Genomics Consortium, IAMDGC, and UK Biobank, UKBB). We ascertained early AMD via color fundus photographs by manual grading for 10 sources and via an automated machine learning approach for > 170,000 photographs from UKBB. We searched for early AMD loc…
Additional file 2 of Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease
Additional file 2: Supplementary Note.
The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association
Loss-of-function mutations in the gene encoding FAM161A were recently discovered as the cause for RP28, an autosomal recessive form of retinitis pigmentosa. To initiate the characterization of the cellular role of FAM161A in the retina, we focused on its subcellular localization and conducted in vitro studies to identify FAM161A-interacting proteins and associated cellular structures. Immunohistochemistry revealed the presence of mouse FAM161A in the photoreceptor inner segments, the synaptic regions of the outer and inner plexiform layers and the ganglion cells. In mouse and human retinal sections from unfixed eyes, FAM161A localized to the ciliary region linking photoreceptor outer and in…
Additional file 1 of Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease
Additional file 1: Supplementary Tables.