ArticleAmerican journal of human genetics2021
Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
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Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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43 citing papers in PubMed, 61 citations in OpenAlex.
- Extended haplotypes at the complement factor H gene locus are associated with liver transplant rejection.Hepatology communications · 2026Article
- Decoding the Factor H-Related Proteins: Gatekeepers of Complement Dysregulation in AMD.European journal of immunology · 2026Review
- Identification of novel blood-borne soluble binding partners of factor H-related proteins.Scientific reports · 2026Article
- Choriocapillaris Flow Signal Deficits Are Associated With AMD Onset and Early Progression Over Three Years: ALSTAR2 Follow-Up.Investigative ophthalmology & visual science · 2026Article
- TheOphthalmology science · 2026Article
- Urinary CFHR2 as a Biomarker for Early Diagnosis and Disease Progression Prediction in Diabetic Kidney Disease.Current molecular medicine · 2026Article
- A new perspective on AMD pathogenesis: a sequential Factor H-centered view of complement dysregulation.Frontiers in immunology · 2026Review
- CTx001 for Geographic Atrophy: A Gene Therapy Expressing Soluble, Truncated Complement Receptor 1 (Mini-CR1).Ophthalmology science · 2026Article
- Mapping the complexity of ME/CFS: Evidence for abnormal energy metabolism, altered immune profile, and vascular dysfunction.Cell reports. Medicine · 2025Article
- Modulation of retinal inflammation delays degeneration in a mouse model of geographic atrophy.Scientific reports · 2025Article
- Factor-H-related protein 1 (FHR1), a promotor of para-inflammation in age-related macular degeneration.Journal of neuroinflammation · 2025Article
- Genetic Associations of Rod- and Cone-Mediated Vision in Aging and Age-Related Macular Degeneration.Investigative ophthalmology & visual science · 2025Article
- Loss of CFHR5 function reduces the risk for age-related macular degeneration.Nature communications · 2025Article
- Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration.American journal of human genetics · 2025Article
- Factor H-related 2 levels dictate FHR dimer composition.Scientific reports · 2025Article
- Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.Investigative ophthalmology & visual science · 2025Article
- The complement system in human pregnancy and preeclampsia.Frontiers in immunology · 2025Review
- Genetic and Epigenetic Biomarkers Linking Alzheimer's Disease and Age-Related Macular Degeneration.International journal of molecular sciences · 2024Review
- Complement regulation in the eye: implications for age-related macular degeneration.The Journal of clinical investigation · 2024Review
- Drusen in AMD from the Perspective of Cholesterol Metabolism and Hypoxic Response.Journal of clinical medicine · 2024Review
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Authors and funding
18 authors at 8 institutions in 4 countries.
Laura Lorés-MottaDepartment of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525EX, the Netherlands; Roche Pharma Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, 4070, Switzerland.
Anna E van BeekDepartment of Immunopathology, Sanquin Research and Landsteiner Laboratory, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, 1066CX, the Netherlands; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, 1105 AZ, the Netherlands; Department of Medical Parasitology and Infection Biology, Swiss Tropical and Public Health Institute, Basel, 4051, Switzerland; University of Basel, Basel, 4051, Switzerland.
Esther WillemsLaboratory of Medical Immunology, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525GA, the Netherlands; Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, 6525GA, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525GA, the Netherlands.
Judith ZandstraDepartment of Immunopathology, Sanquin Research and Landsteiner Laboratory, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, 1066CX, the Netherlands; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, 1105 AZ, the Netherlands.
Gerard van MierloDepartment of Immunopathology, Sanquin Research and Landsteiner Laboratory, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, 1066CX, the Netherlands.
Alfred EinhausRoche Pharma Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, 4070, Switzerland.
Jean-Luc MaryRoche Pharma Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, 4070, Switzerland.
Corinne StuckiRoche Pharma Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, 4070, Switzerland.
Bjorn BakkerDepartment of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525EX, the Netherlands.
Carel B HoyngDepartment of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525EX, the Netherlands.
Sascha FauserRoche Pharma Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, 4070, Switzerland.
Simon J ClarkUniversity Eye Clinic, Department for Ophthalmology, University of Tübingen, 72076, Germany; Institue for Ophthalmic Research, Eberhard Karls University of Tübingen, 72076, Germany; Lydia Becker Institute of Immunology and Inflammation, Faculty of Biology, Medicine and Health, University of Manchester, M139PL, United Kingdom.
Marien I de JongeLaboratory of Medical Immunology, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525GA, the Netherlands; Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, 6525GA, the Netherlands.
Everson NogocekeRoche Pharma Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, 4070, Switzerland.
Elod KoertvelyRoche Pharma Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, 4070, Switzerland.
Ilse JongeriusDepartment of Immunopathology, Sanquin Research and Landsteiner Laboratory, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, 1066CX, the Netherlands; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, 1105 AZ, the Netherlands.
Taco W KuijpersDepartment of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, 1105 AZ, the Netherlands; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, 1066CX, the Netherlands.
Anneke I den HollanderDepartment of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525EX, the Netherlands; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, 6525GA, the Netherlands. Electronic address: Anneke.denHollander@radboudumc.nl.
Roche (Switzerland) · CHRadboud University Nijmegen · NLEmma Kinderziekenhuis · NLRadboud University Medical Center · NLSanquin · NLSTZ eyetrial · DESwiss Tropical and Public Health Institute · CHUniversity of Amsterdam · NL
Funding
International Advancing genomics through the AMD Genomics Consortium (IAMDGC)R01EY022310 · NEI · VANDERBILT UNIVERSITY · PI BLANTON, SUSAN HALLORAN, HAINES, JONATHAN L · 2012 to 2024
$4.9MMedical Research Council MR/P025838/1NEI NIH HHS R01 EY022310NHLBI NIH HHS HHSN268201200008CNHLBI NIH HHS HHSN268201200008I
Abstract
Age-related macular degeneration (AMD) is the principal cause of blindness in the elderly population. A strong effect on AMD risk has been reported for genetic variants at the CFH locus, encompassing complement factor H (CFH) and the complement-factor-H-related (CFHR) genes, but the underlying mechanisms are not fully understood. We aimed to dissect the role of factor H (FH) and FH-related (FHR) proteins in AMD in a cohort of 202 controls and 216 individuals with AMD. We detected elevated systemic levels of FHR-1 (p = 1.84 × 10
Indexed as
Genetic Predisposition to DiseaseHaplotypesPolymorphism, Single NucleotideCohort StudiesComplement C3b Inactivator ProteinsComplement Factor HComplement System ProteinsGenome-Wide Association StudyHumansMacular DegenerationCFHR2 protein, humanCFHR5 protein, humanComplement C3b Inactivator ProteinsComplement Factor HComplement System Proteinsage-related macular degenerationAMDCFHCFHR2CFHR5complement Factor Hcomplement-factor-H-relatedcomplement system
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