CFHR3

Summary

Gene Symbol: CFHR3
Description: complement factor H related 3
Alias: CFHL3, DOWN16, FHR-3, FHR3, HLF4, complement factor H-related protein 3, H factor-like 4, H factor-like protein 3
Species: human
Products:     CFHR3

Top Publications

  1. Hughes A, Orr N, Esfandiary H, Diaz Torres M, Goodship T, Chakravarthy U. A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Nat Genet. 2006;38:1173-7 pubmed
    ..We found that this haplotype carried a deletion of CFHR1 and CFHR3, and the proteins encoded by these genes were absent in serum of homozygotes...
  2. Zhao J, Wu H, Khosravi M, Cui H, Qian X, Kelly J, et al. Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility. PLoS Genet. 2011;7:e1002079 pubmed publisher
    ..Within this block, the deletion of CFHR3 and CFHR1 (CFHR3-1?), a likely causal variant measured using multiplex ligation-dependent probe amplification, was ..
  3. Hellwage J, Jokiranta T, Koistinen V, Vaarala O, Meri S, Zipfel P. Functional properties of complement factor H-related proteins FHR-3 and FHR-4: binding to the C3d region of C3b and differential regulation by heparin. FEBS Lett. 1999;462:345-52 pubmed
    ..A C-terminal construct of factor H showed similar binding characteristics. The interaction of FHR-3, but not of FHR4, with opsonised pneumococci was inhibited by heparin. ..
  4. Skerka C, Kuhn S, Gunther K, Lingelbach K, Zipfel P. A novel short consensus repeat-containing molecule is related to human complement factor H. J Biol Chem. 1993;268:2904-8 pubmed
    We have identified a novel factor H-related cDNA, which was isolated from a human liver cDNA library. The DOWN16 clone is 1269 base pairs in size and hybridized to a mRNA of 1.4 kilobases...
  5. Kubista K, Tosakulwong N, Wu Y, Ryu E, Roeder J, Hecker L, et al. Copy number variation in the complement factor H-related genes and age-related macular degeneration. Mol Vis. 2011;17:2080-92 pubmed
    ..A multiplex ligation-dependent probe amplification assay was developed to quantify the number of copies of CFH, CFHR3, CFHR1, CFHR4, CFHR2, and CFHR5 in humans...
  6. Zipfel P, Skerka C. Complement factor H and related proteins: an expanding family of complement-regulatory proteins?. Immunol Today. 1994;15:121-6 pubmed
    ..Here, Peter Zipfel and Christine Skerka review these similarities and suggest a new nomenclature to identify members of the factor-H-related family. ..
  7. Male D, Ormsby R, Ranganathan S, Giannakis E, Gordon D. Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes. Mol Immunol. 2000;37:41-52 pubmed
  8. Zipfel P, Edey M, Heinen S, Jozsi M, Richter H, Misselwitz J, et al. Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. PLoS Genet. 2007;3:e41 pubmed
    ..deletion of two closely related genes, complement factor H-related 1 (CFHR1) and complement factor H-related 3 (CFHR3), increases the risk of aHUS...
  9. Raychaudhuri S, Ripke S, Li M, Neale B, Fagerness J, Reynolds R, et al. Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent. Nat Genet. 2010;42:553-5; author reply 555-6 pubmed publisher

More Information

Publications72

  1. Hageman G, Hancox L, Taiber A, Gehrs K, Anderson D, Johnson L, et al. Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications. Ann Med. 2006;38:592-604 pubmed
    ..We identify and characterize a large, common deletion that encompasses both the CFHR1 and CFHR3 genes. CFHR1, an abundant serum protein, is absent in subjects homozygous for the deletion...
  2. Spencer K, Hauser M, Olson L, Schmidt S, Scott W, Gallins P, et al. Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. Hum Mol Genet. 2008;17:971-7 pubmed
    ..Recently, deletion of the 'CFH-related' genes CFHR1 and CFHR3 was found to be segregating with a particular CFH haplotype, which reduced the risk of AMD...
  3. Diaz Guillen M, Rodriguez De Cordoba S, Heine Suñer D. A radiation hybrid map of complement factor H and factor H-related genes. Immunogenetics. 1999;49:549-52 pubmed
  4. Schmid Kubista K, Tosakulwong N, Wu Y, Ryu E, Hecker L, Baratz K, et al. Contribution of copy number variation in the regulation of complement activation locus to development of age-related macular degeneration. Invest Ophthalmol Vis Sci. 2009;50:5070-9 pubmed publisher
    To develop an assay for determining the number of copies of the genes encoding complement factor H related 3 (CFHR3) and 1 (CFHR1) and determine the contribution of copy number variation (CNV) at CFHR3 and CFHR1 to the development of age-..
  5. Fritsche L, Lauer N, Hartmann A, Stippa S, Keilhauer C, Oppermann M, et al. An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). Hum Mol Genet. 2010;19:4694-704 pubmed publisher
    A frequent deletion of complement factor H (CFH)-related genes CFHR3 and CFHR1 (?CFHR3/CFHR1) is considered to have a protective effect against age-related macular degeneration (AMD), although the underlying mechanism remains elusive...
  6. Jozsi M, Licht C, Strobel S, Zipfel S, Richter H, Heinen S, et al. Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. Blood. 2008;111:1512-4 pubmed
    ..We previously described the deficiency of factor H-related proteins CFHR1 and CFHR3 as predisposing factor for aHUS...
  7. Moore I, Strain L, Pappworth I, Kavanagh D, Barlow P, Herbert A, et al. Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome. Blood. 2010;115:379-87 pubmed publisher
    ..By using multiplex ligation-dependent probe amplification we measured complement factor H-related (CFHR)1 and CFHR3 copy number. In 10 of the 13 patients there were 0 copies of CFHR1, and in 3 patients there were 2...
  8. Davila S, Wright V, Khor C, Sim K, Binder A, Breunis W, et al. Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. Nat Genet. 2010;42:772-6 pubmed publisher
    ..936D<E), P = 2.2 x 10(-11)) and in CFH-related protein 3 (CFHR3)(rs426736, P = 4.6 x 10(-13)). N...
  9. Hu X, Liu H, Du J, Chen Y, Yang M, Xie Y, et al. The clinical significance of plasma CFHR 1-5 in lupus nephropathy. Immunobiology. 2019;: pubmed publisher
    ..We found that plasma levels of CFHR3 and CFHR5 were higher in patients with lupus nephritis than in healthy individuals; also, CFHR3 and CFHR5 ..
  10. Bhasym A, Gurjar B, Prabhu S, Puraswani M, Khandelwal P, Saini H, et al. Altered Peripheral Blood Leucocyte Phenotype and Responses in Healthy Individuals with Homozygous Deletion of FHR1 and FHR3 Genes. J Clin Immunol. 2019;: pubmed publisher
    A homozygous 83-kb deletion encompassing the genes for complement factor-H-related proteins 1 and 3 (FHR 1, FHR3) is known as a risk factor for some immune inflammatory disorders...
  11. Yi C, Zhao F, Qiu H, Wang L, Huang J, Nie X, et al. [Analysis of variants in complement genes in Han Chinese children with atypical hemolytic uremic syndrome]. Zhonghua Er Ke Za Zhi. 2017;55:624-627 pubmed publisher
    ..Analysis of variants of all the exons of 10 complement genes (CFH, MCP, CFI, C3, CFB, CFHR1, CFHR2, CFHR3, CFHR4 and CFHR5), including 25 bases from 3' end and 25 bases from 5' end, was performed in the 11 cases by ..
  12. Blanc C, Togarsimalemath S, Chauvet S, Le Quintrec M, Moulin B, Buchler M, et al. Anti-factor H autoantibodies in C3 glomerulopathies and in atypical hemolytic uremic syndrome: one target, two diseases. J Immunol. 2015;194:5129-38 pubmed publisher
    ..No homozygous deletions of the CFHR1 and CFHR3 genes, which are frequently associated with the anti-FH Ab in aHUS patients, were found in the GP patients...
  13. Medjeral Thomas N, Malik T, Patel M, Toth T, Cook H, Tomson C, et al. A novel CFHR5 fusion protein causes C3 glomerulopathy in a family without Cypriot ancestry. Kidney Int. 2014;85:933-7 pubmed publisher
    ..These include a hybrid CFHR3-1 gene and an internal duplication within the CFHR5 gene...
  14. Cantsilieris S, Nelson B, HUDDLESTON J, Baker C, Harshman L, Penewit K, et al. Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family. Proc Natl Acad Sci U S A. 2018;115:E4433-E4442 pubmed publisher
    ..i>CFH-related (CFHR) gene paralogs (CFHR2 and CFHR4 ∼25-35 Mya and CFHR1 and CFHR3 ∼7-13 Mya). Remarkably, all evolutionary breakpoints share a common ∼4...
  15. Vondrak K, Seeman T. Successful 7-Year Eculizumab Treatment of Plasmapheresis-Resistant Recurrent Atypical Hemolytic-Uremic Syndrome due to Complement Factor H Hybrid Gene: A Case Report. Transplant Proc. 2018;50:967-970 pubmed publisher
    ..Only 3 case reports regard treatment in patients with complement factor H (CFH/CFHR1/CFHR3) hybrid gene...
  16. Smit McBride Z, Oltjen S, Radu R, Estep J, Nguyen A, Gong Q, et al. Localization of complement factor H gene expression and protein distribution in the mouse outer retina. Mol Vis. 2015;21:110-23 pubmed
    ..Cfh and Cfhr2 transcripts were detected in the mouse RPE/choroid using qPCR, while Cfhr1, Cfhr3, and Cfhrc (Gm4788) were not detected...
  17. Ansari M, McKeigue P, Skerka C, Hayward C, Rudan I, Vitart V, et al. Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration. Hum Mol Genet. 2013;22:4857-69 pubmed publisher
    ..situation is complicated by tight genetic associations across the region, including the adjacent CFH-related genes CFHR3 and CFHR1, which may themselves influence the alternative complement pathway and are contained within a common ..
  18. Cullinan N, Gorman K, Riordan M, Waldron M, Goodship T, Awan A. Case report: Benefits and challenges of long-term eculizumab in atypical hemolytic uremic syndrome. Pediatrics. 2015;135:e1506-9 pubmed publisher
    ..We present a child with a hybrid CFH/CFHR3 gene who, having had multiple disease relapses despite optimal treatment with plasma exchange, commenced ..
  19. Bitzan M, Hammad R, Bonnefoy A, Al Dhaheri W, Vezina C, Rivard G. Acquired thrombotic thrombocytopenic purpura with isolated CFHR3/1 deletion-rapid remission following complement blockade. Pediatr Nephrol. 2018;33:1437-1442 pubmed publisher
    ..Extensive laboratory workup revealed a homozygous deletion of CFHR3/1 negative for anti-CFH antibodies, but no mutations of ADAMTS13, (other) alternative pathway of complement ..
  20. Song D, Liu X, Chen Z, Xiao H, Ding J, Sun S, et al. The clinical and laboratory features of Chinese Han anti-factor H autoantibody-associated hemolytic uremic syndrome. Pediatr Nephrol. 2017;32:811-822 pubmed publisher
    ..Of the 22 patients, four (18%) were homozygous for CFHR3-1? and ten were heterozygous for CFHR1 or CFHR3 deletions...
  21. Arya S, Emri E, Synowsky S, Shirran S, Barzegar Befroei N, Peto T, et al. Quantitative analysis of hydroxyapatite-binding plasma proteins in genotyped individuals with late-stage age-related macular degeneration. Exp Eye Res. 2018;172:21-29 pubmed publisher
    ..05) between the two homozygous groups. The concentrations of six proteins (FHR1, FHR3, APOC4, C4A, C4B and PZP) in the HAP eluted fractions and whole plasma were further analysed using ELISA and their ..
  22. Medjeral Thomas N, Lomax Browne H, Beckwith H, Willicombe M, McLean A, Brookes P, et al. Circulating complement factor H-related proteins 1 and 5 correlate with disease activity in IgA nephropathy. Kidney Int. 2017;92:942-952 pubmed publisher
    ..Thus, FHR-1 and FHR-5 have a role in IgAN disease progression. ..
  23. Sahutoglu T, Basturk T, Sakaci T, Koc Y, Ahbap E, Sevinc M, et al. Can eculizumab be discontinued in aHUS?: Case report and review of the literature. Medicine (Baltimore). 2016;95:e4330 pubmed publisher
    ..of TMA following discontinuation of eculizumab is relatively low for patients with MCP mutations, homozygous CFHR3/R1 deletions, anti-CFH antibodies, CFI mutations, and no identifiable mutations, whereas there is a major risk for ..
  24. Osborne A, Breno M, Borsa N, Bu F, Fremeaux Bacchi V, Gale D, et al. Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy. J Immunol. 2018;200:2464-2478 pubmed publisher
    ..in 13 mostly complement genes (CFH, CFI, CD46, C3, CFB, CFHR1, CFHR3, CFHR4, CFHR5, CFP, PLG, DGKE, and THBD) from >3500 patients with ..
  25. Tortajada A, Gutierrez E, Goicoechea de Jorge E, Anter J, Segarra A, Espinosa M, et al. Elevated factor H-related protein 1 and factor H pathogenic variants decrease complement regulation in IgA nephropathy. Kidney Int. 2017;92:953-963 pubmed publisher
    ..of complement components and the strong protection from IgAN development conferred by the deletion of the CFHR3 and CFHR1 genes (?CFHR3-CFHR1)...
  26. Schäfer N, Grosche A, Reinders J, Hauck S, Pouw R, Kuijpers T, et al. Complement Regulator FHR-3 Is Elevated either Locally or Systemically in a Selection of Autoimmune Diseases. Front Immunol. 2016;7:542 pubmed
    ..Homozygous cfhr3/1 deletion is a genetic risk factor for the autoimmune form of atypical hemolytic-uremic syndrome (aHUS), ..
  27. Grenda R, Jarmużek W, Rubik J, Prokurat S, Miklaszewska M, Drozdz D, et al. Favorable four-yr outcome after renal transplantation in a patient with complement factor H antibody and CFHR1/CFHR3 gene mutation-associated HUS. Pediatr Transplant. 2015;19:E130-4 pubmed publisher
    ..A 14-yr-old girl lost her kidneys at the age of 7, due to CFH antibodies and CFH-related protein (CFHR1/CFHR3) homozygous deletion-associated aHUS. CFH, CFI, and MCP gene mutations were excluded...
  28. Dedhia P, Govil A, Mogilishetty G, Alloway R, Woodle E, Abu Jawdeh B. Eculizumab and Belatacept for De Novo Atypical Hemolytic Uremic Syndrome Associated With CFHR3-CFHR1 Deletion in a Kidney Transplant Recipient: A Case Report. Transplant Proc. 2017;49:188-192 pubmed publisher
    ..This case highlights the success of using a strategy that combines eculizumab and belatacept, as an alternative to calcineurin inhibitors, in treating aHUS in a patient with heterozygous deletion in the CFHR3-CFHR1 gene.
  29. Durey M, Sinha A, Togarsimalemath S, Bagga A. Anti-complement-factor H-associated glomerulopathies. Nat Rev Nephrol. 2016;12:563-78 pubmed publisher
    ..associated with the occurrence of a homozygous deletion in the genes encoding the FH-related proteins FHR1 and FHR3. High levels of autoantibodies, noted at the onset of disease and during relapses, induce functional deficiency of ..
  30. Zhang T, Lu J, Liang S, Chen D, Zhang H, Zeng C, et al. Comprehensive Analysis of Complement Genes in Patients with Atypical Hemolytic Uremic Syndrome. Am J Nephrol. 2016;43:160-9 pubmed publisher
    ..Twelve out of 23 patients harbored complement mutations. Among the patients, one was a homozygote (Arg142Cys in CFHR3), and 4 carried combined mutations...
  31. Khan F, Pandian V, Ramraj S, Natarajan M, Aravindan S, Herman T, et al. Acquired genetic alterations in tumor cells dictate the development of high-risk neuroblastoma and clinical outcomes. BMC Cancer. 2015;15:514 pubmed publisher
    ..alterations in chromosomes 1, 7, 8, and 22, corresponding to a gain in the copy numbers of LOC100288142, CD1C, CFHR3, FOXP2, MDFIC, RALYL, CSMD3, SAMD12-AS1, and MAL2, and a loss in ADAM5, LOC400927, APOBEC3B, RPL3, MGAT3, SLC25A17,..
  32. Malik T, Lavin P, Goicoechea de Jorge E, Vernon K, Rose K, Patel M, et al. A hybrid CFHR3-1 gene causes familial C3 glomerulopathy. J Am Soc Nephrol. 2012;23:1155-60 pubmed publisher
    ..Combined deletion of CFHR3 and CFHR1 is common and confers a protective effect in IgA nephropathy...
  33. Challis R, Araujo G, Wong E, Anderson H, Awan A, Dorman A, et al. A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome. J Am Soc Nephrol. 2016;27:1617-24 pubmed publisher
    ..We describe a novel CFH/CFHR3 hybrid gene secondary to a de novo 6...
  34. Rogers L, Mott S, Smith B, Link B, Sahin D, Weiner G. Complement-Regulatory Proteins CFHR1 and CFHR3 and Patient Response to Anti-CD20 Monoclonal Antibody Therapy. Clin Cancer Res. 2017;23:954-961 pubmed publisher
    ..To assess the role of three SNP-associated complement-regulatory proteins (CFH, CFHR1, and CFHR3) in clinical response to anti-CD20 mAb, we studied two cohorts of patients treated with anti-CD20 mAb...
  35. de Holanda M, Porto L, Wagner T, Christiani L, Palma L. Use of eculizumab in a systemic lupus erythemathosus patient presenting thrombotic microangiopathy and heterozygous deletion in CFHR1-CFHR3. A case report and systematic review. Clin Rheumatol. 2017;36:2859-2867 pubmed publisher
    ..Genetic analysis showed large heterozygous deletion encompassing the entire CFHR1 and CFHR3, a finding previously associated with patients presenting atypical hemolytic-uremic syndrome (aHUS)...
  36. Ku C, Teo S, Naidoo N, Sim X, Teo Y, Pawitan Y, et al. Copy number polymorphisms in new HapMap III and Singapore populations. J Hum Genet. 2011;56:552-60 pubmed publisher
    ..the 10 populations and these loci overlap with known disease-associated or pharmacogenetic-related genes such as CFHR3 and CFHR1 (age related macular degeneration), GSTTI (metabolism of various carcinogenic compounds and cancers) and ..
  37. Hughes A, Bridgett S, Meng W, Li M, Curcio C, Stambolian D, et al. Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk. Invest Ophthalmol Vis Sci. 2016;57:2763-9 pubmed publisher
    ..coinheritance of potentially functional variants (including missense variants, novel splice sites, and the CFHR3-CFHR1 deletion) was described for the four common haplotypes...
  38. Gan W, Wu J, Lu L, Xiao X, Huang H, Wang F, et al. Associations of CFH polymorphisms and CFHR1-CFHR3 deletion with blood pressure and hypertension in Chinese population. PLoS ONE. 2012;7:e42010 pubmed publisher
    ..259). In conclusion, our results suggest that genetic variations in CFH and its related genes may contribute to hypertension risk in Chinese Hans. ..
  39. Yang X, Sun J, Gao Y, Tan A, Zhang H, Hu Y, et al. Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects. PLoS Genet. 2012;8:e1002916 pubmed publisher
    ..Our study is the first GWAS report which shows genetic components influence the levels of complement C3 and C4. Our significant findings provide novel insights of their related autoimmune, infectious diseases, and molecular mechanisms...
  40. Ding Y, Zhao W, Zhang T, Qiang H, Lu J, Su X, et al. A haplotype in CFH family genes confers high risk of rare glomerular nephropathies. Sci Rep. 2017;7:6004 pubmed publisher
    ..In silico analysis, the CFHR3 rs61737525-T risk allele altered the physical and structural properties and generated a reduction in binding ..
  41. Gaut J, Jain S, Pfeifer J, Vigh Conrad K, Corliss M, Sharma M, et al. Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies. Mod Pathol. 2017;30:1739-1747 pubmed publisher
    ..b>CFHR3-CFHR1 deletion status was also assessed using multiplex ligation-dependent probe amplification...
  42. Bernabéu Herrero M, Jiménez Alcázar M, Anter J, Pinto S, Sánchez Chinchilla D, Garrido S, et al. Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome. Mol Immunol. 2015;67:276-86 pubmed publisher
    ..We also report the identification of a polymorphism in CFHR3 (c.721C>T; rs379370) that is associated with increased risk of aHUS (OR=1.78; CI 1.22-2.59; p=0...
  43. Sinha A, Gulati A, Saini S, Blanc C, Gupta A, Gurjar B, et al. Prompt plasma exchanges and immunosuppressive treatment improves the outcomes of anti-factor H autoantibody-associated hemolytic uremic syndrome in children. Kidney Int. 2014;85:1151-60 pubmed publisher
    ..Thus, prompt use of immunosuppressive agents and plasma exchanges are useful for improving outcomes in pediatric patients with anti-complement factor H-associated HUS. ..
  44. Caire J, Recalde S, Velazquez Villoria A, García García L, REITER N, Anter J, et al. Growth of geographic atrophy on fundus autofluorescence and polymorphisms of CFH, CFB, C3, FHR1-3, and ARMS2 in age-related macular degeneration. JAMA Ophthalmol. 2014;132:528-34 pubmed
    ..In fact, we demonstrate that gene variants of CFH and CFB, as well as demographic risk factors, confer significant risk for GA progression (both rate of progression and relative growth) within a Spanish population. ..
  45. Jullien P, Laurent B, Claisse G, Masson I, Dinic M, Thibaudin D, et al. Deletion Variants of CFHR1 and CFHR3 Associate with Mesangial Immune Deposits but Not with Progression of IgA Nephropathy. J Am Soc Nephrol. 2018;29:661-669 pubmed publisher
    ..genome-wide association studies have shown that deletion of complement factor H-related genes 1 and 3 (CFHR3,1Δ) is associated with a reduced risk of developing IgAN, although the prognostic value of these deletions in ..
  46. Dezidério Sacconi D, Cabral de Vasconcellos J, Endo Hirata F, MacCord Medina F, Rim P, Barbosa de Melo M. Evaluation of CFH Y402H polymorphism and CFHR3/CFHR1 deletion in age-related macular degeneration patients from Brazil. Ophthalmic Genet. 2016;37:459-461 pubmed
  47. Sullivan M, Erlic Z, Hoffmann M, Arbeiter K, Patzer L, Budde K, et al. Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome. Ann Hum Genet. 2010;74:17-26 pubmed publisher
    ..Occurrence of homo- and heterozygous mutations in the same gene suggests that the number of necessary DNA variants remains unclear. Among clinical information only familial occurrence predicts a mutation. ..
  48. Francis N, McNicholas B, Awan A, Waldron M, Reddan D, Sadlier D, et al. A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome. Blood. 2012;119:591-601 pubmed publisher
    ..These include deletions of CFHR3, CFHR1, and CFHR4 in association with fH autoantibodies and the formation of a hybrid CFH/CFHR1 gene...
  49. Cantsilieris S, White S, Richardson A, Guymer R, Baird P. Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration. PLoS ONE. 2012;7:e35255 pubmed publisher
    ..However, significant association was identified for the CFHR3-1 deletion in AMD cases (p = 2.38 × 10(-12)) OR = 0.31, CI-0.95 (0.23-0...
  50. Bakri N, Ramachandran V, Kee H, Subrayan V, Isa H, Ngah N, et al. Association of copy number variations in complement factor H-Related genes among age-related macular degenerative subjects. Kaohsiung J Med Sci. 2017;33:602-608 pubmed publisher
    ..DNA was extracted from all subjects and CNVs of CFH, CFHR1 and CFHR3 genes; determined using quantitative real-time PCR and were compared between the two groups...
  51. Veneman W, Spaink H, Brun N, Bosker T, Vijver M. Pathway analysis of systemic transcriptome responses to injected polystyrene particles in zebrafish larvae. Aquat Toxicol. 2017;190:112-120 pubmed publisher
    ..g. cfhl3, cfhl4, cfb and c9)...
  52. Józsi M, Tortajada A, Uzonyi B, Goicoechea de Jorge E, Rodríguez de Córdoba S. Factor H-related proteins determine complement-activating surfaces. Trends Immunol. 2015;36:374-84 pubmed publisher
  53. Lee B, Kwak S, Shin J, Lee S, Choi H, Kang H, et al. Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency. Pediatr Res. 2009;66:336-40 pubmed publisher
    ..a correlation between the development of CFH-Ab and the deficiency of the CFH-related proteins, CFHR1 and CFHR3, was identified...
  54. Sawitzke J, Im K, Kostiha B, Dean M, Gold B. Association assessment of copy number polymorphism and risk of age-related macular degeneration. Ophthalmology. 2011;118:2442-6 pubmed publisher
    ..The author(s) have no proprietary or commercial interest in any materials discussed in this article. ..
  55. Chaudhary P, Hepgur M, Sarkissian S, Smith R, Weitz I. Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479. Blood Transfus. 2014;12:111-3 pubmed publisher
  56. Nozawa A, Ozeki M, Hori T, Kawamoto N, Hirayama M, Azuma E, et al. A Heterozygous CFHR3-CFHR1 Gene Deletion in a Pediatric Patient With Transplant-associated Thrombotic Microangiopathy Who was Treated With Eculizumab. J Pediatr Hematol Oncol. 2017;: pubmed publisher
    ..Eculizumab improved TA-TMA. Investigation for the complement alternative pathway showed a heterozygous CFHR3-CFHR1 gene deletion, which is involved in complement activation...
  57. Zhu L, Zhai Y, Wang F, Hou P, LV J, Xu D, et al. Variants in Complement Factor H and Complement Factor H-Related Protein Genes, CFHR3 and CFHR1, Affect Complement Activation in IgA Nephropathy. J Am Soc Nephrol. 2015;26:1195-204 pubmed publisher
    ..protein-encoding genes CFH and CFHR1-5, with rs6677604 in CFH as the top single-nucleotide polymorphism and CFHR3-1 deletion (CFHR3-1∆) as the top signal for copy number variation...
  58. Dhillon B, Wright A, Tufail A, Pappworth I, Hayward C, Moore I, et al. Complement factor h autoantibodies and age-related macular degeneration. Invest Ophthalmol Vis Sci. 2010;51:5858-63 pubmed publisher
    ..MLPA) were performed to measure the copy number of the gene encoding complement factor H-related protein 3 (CFHR3)...
  59. Münch J, Bachmann A, Grohmann M, Mayer C, Kirschfink M, Lindner T, et al. Effective immunosuppressive management with belatacept and eculizumab in post-transplant aHUS due to a homozygous deletion of CFHR1/CFHR3 and the presence of CFH antibodies. Clin Kidney J. 2017;10:742-746 pubmed publisher
    ..Genetic investigation revealed a homozygous deletion of the CFH-related 1 (CFHR1) and CFHR3 genes in addition to the presence of autoantibodies against complement factor H (CFH)...
  60. Gharavi A, Kiryluk K, Choi M, Li Y, Hou P, Xie J, et al. Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nat Genet. 2011;43:321-7 pubmed publisher
    ..three independent loci in the major histocompatibility complex, as well as a common deletion of CFHR1 and CFHR3 at chromosome 1q32 and a locus at chromosome 22q12 that each surpassed genome-wide significance (P values for ..
  61. Buhlmann D, Eberhardt H, Medyukhina A, Prodinger W, Figge M, Zipfel P, et al. FHR3 Blocks C3d-Mediated Coactivation of Human B Cells. J Immunol. 2016;197:620-9 pubmed publisher
    ..specific for the central complement regulator, factor H, combined with a homozygous deficiency, mostly in CFHR3 and CFHR1 Because FHR3 and FHR1 bind to C3d and inactivated C3b, which are ligands for complement receptor type 2 (..
  62. Xie J, Kiryluk K, Li Y, Mladkova N, Zhu L, Hou P, et al. Fine Mapping Implicates a Deletion of CFHR1 and CFHR3 in Protection from IgA Nephropathy in Han Chinese. J Am Soc Nephrol. 2016;27:3187-3194 pubmed
    ..causal sequence variant resides in the CFH gene or the neighboring complement factor H-related 1 (CFHR1) gene and CFHR3, which harbor an 84-kb combined deletion (CFHR3,1Δ) in linkage disequilibrium with rs6677604...