ArticleJournal of medical genetics2006
Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 1 of them a synthesis that pooled it.
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Who cites it
104 citing papers in PubMed, 1 synthesis or guideline pooled it, 215 citations in OpenAlex.
- Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.Human molecular genetics · 2013Pooled it
- Eculizumab for dense deposit disease and C3 glomerulonephritis.Clinical journal of the American Society of Nephrology : CJASN · 2012Trial
- Truncated complement factor H Y402 gene therapy rescues C3 glomerulonephritis.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- The complement factor H-related protein-5 (CFHR5) exacerbates pathological bone formation in ankylosing spondylitis.Journal of molecular medicine (Berlin, Germany) · 2024Article
- Genetic investigation of Nordic patients with complement-mediated kidney diseases.Frontiers in immunology · 2023Article
- Kidney diseases.Immunological reviews · 2023Review
- Common and rare variants in patients with early onset drusen maculopathy.Clinical genetics · 2022Article
- Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations.American journal of human genetics · 2022Article
- C3 Glomerulopathy: A Review with Emphasis on Ultrastructural Features.Glomerular diseases · 2022Review
- Poor allograft outcome in Indian patients with post-transplant C3 glomerulopathy.Clinical kidney journal · 2021Article
- FHR-5 Serum Levels andFrontiers in immunology · 2021Article
- Outcome of C3 glomerulopathy patients: largest single-centre experience from South Asia.Journal of nephrology · 2020Article
- Review
- Function and Dysfunction of Complement Factor H During Formation of Lipid-Rich Deposits.Frontiers in immunology · 2020Review
- Increased risk of central serous chorioretinopathy following end-stage renal disease: A nationwide population-based study.Medicine · 2019Article
- Complement Inhibitors in Clinical Trials for Glomerular Diseases.Frontiers in immunology · 2019Review
- Impact of a Complement Factor H Gene Variant on Renal Dysfunction, Cardiovascular Events, and Response to ACE Inhibitor Therapy in Type 2 Diabetes.Frontiers in genetics · 2019Article
- Regulation of the Complement System by Pentraxins.Frontiers in immunology · 2019Review
- A rare case of Alport syndrome, atypical hemolytic uremic syndrome and Pauci-immune crescentic glomerulonephritis.BMC nephrology · 2018Article
- Outcome of membranoproliferative glomerulonephritis and C3-glomerulopathy in children and adolescents.Pediatric nephrology (Berlin, Germany) · 2018Article
44 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionMembranoproliferative glomerulonephritis type II or dense deposit disease (MPGN II/DDD) causes chronic renal dysfunction that progresses to end stage renal disease in about half of patients within 10 years of diagnosis. Deficiency of and mutations in the complement factor H (CFH) gene are associated with the development of MPGN II/DDD, suggesting that dysregulation of the alternative pathway of the complement cascade is important in disease pathophysiology. SUBJECTS: Patients with MPGN II/DDD were studied to determine whether specific allele variants of CFH and CFHR5 segregate preferentially with the MPGN II/DDD disease phenotype. The control group was compromised of 131 people in whom age related macular degeneration had been excluded.
resultsAllele frequencies of four single nucleotide polymorphisms in CFH and three in CFHR5 were significantly different between MPGN II/DDD patients and controls.
conclusionWe have identified specific allele variants of CFH and CFHR5 associated with the MPGN II/DDD disease phenotype. While our data can be interpreted to further implicate complement in the pathogenesis of MPGN II/DDD, these associations could also be unrelated to disease pathophysiology. Functional studies are required to resolve this question.
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