{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zouache MA"],"funding":["U.S. Department of Health & Human Services | NIH | National Eye Institute","NEI NIH HHS","Research to Prevent Blindness","Additional funding from philanthropic donations to the Steele Center for Translational Medicine, John A. Moran Eye Center, University of Utah."],"pagination":["443"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10781981"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["15(1)"],"pubmed_abstract":["Dysregulation of the alternative pathway (AP) of the complement system is a significant contributor to age-related macular degeneration (AMD), a primary cause of irreversible vision loss worldwide. Here, we assess the contribution of the liver-produced complement factor H-related 4 protein (FHR-4) to AMD initiation and course of progression. We show that FHR-4 variation in plasma and at the primary location of AMD-associated pathology, the retinal pigment epithelium/Bruch's membrane/choroid interface, is entirely explained by three independent quantitative trait loci (QTL). Using two distinct cohorts composed of a combined 14,965 controls and 20,741 cases, we ascertain that independent QTLs for FHR-4 are distinct from variants causally associated with AMD, and that FHR-4 variation is not i"],"journal":["Nature communications"],"pubmed_title":["Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression."],"pmcid":["PMC10781981"],"funding_grant_id":["Unrestricted Grant to the Department of Ophthalmology & Visual Sciences, University of Utah.","R24 EY017404","R24EY017404"],"pubmed_authors":["Fleckenstein M","Liu J","Schmitz-Valckenberg S","Hageman GS","Williams BL","Seager NA","Corsetti T","Thomas J","Zouache MA","Anstadt RA","Hageman JL","Hubbard WC","Richards BT","Pappas CM","Matthews S"],"additional_accession":[]},"is_claimable":false,"name":"Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression.","description":"Dysregulation of the alternative pathway (AP) of the complement system is a significant contributor to age-related macular degeneration (AMD), a primary cause of irreversible vision loss worldwide. Here, we assess the contribution of the liver-produced complement factor H-related 4 protein (FHR-4) to AMD initiation and course of progression. We show that FHR-4 variation in plasma and at the primary location of AMD-associated pathology, the retinal pigment epithelium/Bruch's membrane/choroid interface, is entirely explained by three independent quantitative trait loci (QTL). Using two distinct cohorts composed of a combined 14,965 controls and 20,741 cases, we ascertain that independent QTLs for FHR-4 are distinct from variants causally associated with AMD, and that FHR-4 variation is not i","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jan","modification":"2026-06-02T11:29:43.467Z","creation":"2024-11-09T13:40:26.526Z"},"accession":"S-EPMC10781981","cross_references":{"pubmed":["38200010"],"doi":["10.1038/s41467-023-44605-0"]}}