Genomes and Genes
factor H related protein 5
Gene Symbol: factor H related protein 5
Description: complement factor H related 5
Alias: CFHL5, CFHR5D, FHR-5, FHR5, complement factor H-related protein 5, factor H-related protein 5
Products: factor H related protein 5
- Monteferrante G, Brioschi S, Caprioli J, Pianetti G, Bettinaglio P, Bresin E, et al. Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome. Mol Immunol. 2007;44:1704-8 pubmed..Based on these data, we conclude that, though not causative, CFHR5 genetic alterations may play a secondary role in the pathogenesis of HUS. ..
- Zhang H, Morrison M, Dewan A, Adams S, Andreoli M, Huynh N, et al. The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration. BMC Med Genet. 2008;9:51 pubmed publisher..This is the first replication study on the NEI dbGAP SNPs, demonstrating that alleles on 1q, 2q and 10q may predispose an individual to AMD. ..
- Goicoechea de Jorge E, Caesar J, Malik T, Patel M, Colledge M, Johnson S, et al. Dimerization of complement factor H-related proteins modulates complement activation in vivo. Proc Natl Acad Sci U S A. 2013;110:4685-90 pubmed publisher..Our data demonstrate that these CFHR proteins function as competitive antagonists of CFH to modulate complement activation in vivo and explain why variation in the CFHRs predisposes to disease. ..
- Narendra U, Pauer G, Hagstrom S. Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration. Mol Vis. 2009;15:731-6 pubmed..However, our findings suggest a possible protective role for Asp169Asp. Further studies of different and larger populations of patient and control samples will be required to address this observation. ..
- McRae J, Murphy B, Eyre H, Sutherland G, Crawford J, Cowan P. Location and structure of the human FHR-5 gene. Genetica. 2002;114:157-61 pubmed..Furthermore, the short consensus repeats (SCRs) of FHR-5 are encoded by individual exons and splicing is of type 1. These data allow the generation of a more complete map of the factor H gene family. ..
- Tseng M, Tsai J, Tsai I, Huang S, Huang J, Fan W, et al. Whole-exome sequencing detects mutations in pediatric patients with atypical hemolytic uremic syndrome in Taiwan. Clin Chim Acta. 2019;494:143-150 pubmed publisher..Genetic defects on both complement and coagulation pathways play pathogenic roles on aHUS. CD36 may be a novel candidate gene act as disease modifier of aHUS. ..
- Jiang Q, Ru Y, Yu Y, Li K, Jing Y, Wang J, et al. iTRAQ-based quantitative proteomic analysis reveals potential early diagnostic markers in serum of acute cellular rejection after liver transplantation. Transpl Immunol. 2019;53:7-12 pubmed publisher..After analysis and ELISA validation, the results showed that CFHR1, CFHR5 and CFH could be candidate protein biomarkers for the early diagnosis of ACR after LT. ..
- Holle J, Berenberg Goßler L, Wu K, Beringer O, Kropp F, Muller D, et al. Outcome of membranoproliferative glomerulonephritis and C3-glomerulopathy in children and adolescents. Pediatr Nephrol. 2018;33:2289-2298 pubmed publisher..Steroids and mycophenolate mofetil seem to be effective and for some patients, eculizumab might be a treatment option. Outcome is heterogeneous and precise differentiation between IC-MPGN and C3G is still pending. ..
- Tortajada A, YÃ©benes H, Abarrategui Garrido C, Anter J, GarcÃa FernÃ¡ndez J, MartÃnez Barricarte R, et al. C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation. J Clin Invest. 2013;123:2434-46 pubmed..resulted in the duplication of the N-terminal short consensus repeats (SCRs) that are conserved in FHR2 and FHR5. We determined that native FHR1, FHR2, and FHR5 circulate in plasma as homo- and hetero-oligomeric complexes, the ..
- Zhu L, Guo W, Shi S, Liu L, LV J, Medjeral Thomas N, et al. Circulating complement factor H-related protein 5 levels contribute to development and progression of IgA nephropathy. Kidney Int. 2018;94:150-158 pubmed publisher..226; 95% confidence interval: 1.106-1.359). Thus, the circulating FHR-5 level is an independent risk factor for IgAN progression. ..
- Viswanathan G, Nada R, Kumar A, Ramachandran R, Rayat C, Jha V, et al. Clinico-pathologic spectrum of C3 glomerulopathy-an Indian experience. Diagn Pathol. 2015;10:6 pubmed publisher..in the glomeruli and categorized into dense deposit disease (DDD), C3 glomerulonephritis (C3GN), complement factor H related protein 5(CFHR5) nephropathy etc...
- Bu F, Borsa N, Jones M, Takanami E, Nishimura C, Hauer J, et al. High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies. J Am Soc Nephrol. 2016;27:1245-53 pubmed publisher..In summary, we were able to provide a positive genetic diagnosis in 43% and 41% of patients carrying the clinical diagnosis of C3G and TMA, respectively. ..
- 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..Plasma FHR-1 negatively correlated with eGFR but remained elevated in patients with IgAN with normal eGFR. Serum FHR5 was slightly elevated in IgAN but did not correlate with eGFR...
- Rudnick R, Chen Q, Stea E, Hartmann A, Papac Milicevic N, Person F, et al. FHR5 Binds to Laminins, Uses Separate C3b and Surface-Binding Sites, and Activates Complement on Malondialdehyde-Acetaldehyde Surfaces. J Immunol. 2018;200:2280-2290 pubmed publisher..In this study, we show that FHR5 binds to laminin-521, the major constituent of the glomerular basement membrane, and to mesangial laminin-211...
- Kousios A. Does complement Factor H-Related protein 5 Nephropathy (Troodos Nephropathy) protect from rickettsial infections?. Med Hypotheses. 2017;98:76-80 pubmed publisher..Confirming this hypothesis, could have significant implications for the study of Complement Factor- H Related Proteins (CFHRs) in renal diseases and rickettsial molecular microbiology. ..
- Chen Q, Wiesener M, Eberhardt H, Hartmann A, Uzonyi B, Kirschfink M, et al. Complement factor H-related hybrid protein deregulates complement in dense deposit disease. J Clin Invest. 2014;124:145-55 pubmed publisher..Monitoring copy number and sequence variations in the CFHR gene cluster in C3G-DDD and kidney patients with C3G-DDD variations will help guide treatment strategies. ..
- Zhai Y, Meng S, Zhu L, Shi S, Wang S, Liu L, et al. Rare Variants in the Complement Factor H-Related Protein 5 Gene Contribute to Genetic Susceptibility to IgA Nephropathy. J Am Soc Nephrol. 2016;27:2894-905 pubmed publisher..Leu259Termination) showed less C3b binding (56.89%±0.57%; P<0.001). Our study found that rare variants in CFHR5 may contribute to the genetic susceptibility to IgAN, which suggests that CFHR5 is an IgAN susceptibility gene. ..
- Xiao X, Ghossein C, Tortajada A, Zhang Y, Meyer N, Jones M, et al. Familial C3 glomerulonephritis caused by a novel CFHR5-CFHR2 fusion gene. Mol Immunol. 2016;77:89-96 pubmed publisher..These data highlight the role of factor H related proteins in the control of complement activity and illustrate how perturbation of that control leads to C3G. ..
- Sethi S, Fervenza F, Zhang Y, Zand L, Meyer N, Borsa N, et al. Atypical postinfectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement. Kidney Int. 2013;83:293-9 pubmed publisher..Hence, the sequela is continual glomerular deposition of complement factors with resultant inflammation and development of an 'atypical' postinfectious glomerulonephritis...
- Chung S, Brown E, Williams A, Ramos P, Berthier C, Bhangale T, et al. Lupus nephritis susceptibility loci in women with systemic lupus erythematosus. J Am Soc Nephrol. 2014;25:2859-70 pubmed publisher..Results from this large-scale genome-wide investigation of lupus nephritis provide evidence of multiple biologically relevant lupus nephritis susceptibility loci. ..
- van Beek A, Pouw R, Brouwer M, van Mierlo G, Geissler J, Ooijevaar de Heer P, et al. Factor H-Related (FHR)-1 and FHR-2 Form Homo- and Heterodimers, while FHR-5 Circulates Only As Homodimer in Human Plasma. Front Immunol. 2017;8:1328 pubmed publisher..In summary, FHR-1, FHR-2, and FHR-5 homodimerize, with FHR-1 and FHR-2 forming heterodimers as well, and equilibrate quickly in plasma. ..
- Cagney D, Dunne M, O Shea C, Finn M, Noone E, Sheehan M, et al. Heterogeneity in high-risk prostate cancer treated with high-dose radiation therapy and androgen deprivation therapy. BMC Urol. 2017;17:60 pubmed publisher..2%, 66.2%, and 69.2%, and 5Â year DMFS rates were 78.4%, 81.2%, and 88.0%. Patients with multiple HR factors have worse outcome than patients with 1 HR factor. Future studies should account for this heterogeneity in HR prostate cancer. ..
- Williams F, Carter A, Hysi P, Surdulescu G, Hodgkiss D, Soranzo N, et al. Ischemic stroke is associated with the ABO locus: the EuroCLOT study. Ann Neurol. 2013;73:16-31 pubmed publisher..811). ABO gene variants are associated with large-vessel and cardioembolic stroke but not small-vessel disease. This work sheds light on the different pathogenic mechanisms underpinning stroke subtype. ..
- 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..analyses were performed in the genes CFH, CD46 and CFI and in the six potential susceptibility genes, FHR1 to FHR5 and C4BP. Germline mutations were identified in 17% of the index cases; 12% in CFH, 3% in CD46 and 2% in CFI...
- 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..However, the striking difference between systemic and ocular expression of complement regulators shown in this study suggests important implications for the development of intraocular and systemic treatments. ..
- Cserhalmi M, Csincsi A, Mezei Z, Kopp A, Hebecker M, Uzonyi B, et al. The Murine Factor H-Related Protein FHR-B Promotes Complement Activation. Front Immunol. 2017;8:1145 pubmed publisher..Altogether, these data demonstrate that, similar to human FHR-1 and FHR-5, mouse FHR-B modulates complement activity by promoting complement activation via interaction with C3b and via competition with murine FH...
- 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..The considerable diversity accumulated at this locus may be due to selection, which is consistent with an important role for the CFHR genes in innate immunity. ..
- Deltas C, Gale D, Cook T, Voskarides K, Athanasiou Y, Pierides A. C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families. Adv Exp Med Biol. 2013;735:189-96 pubmed..About 50% of patients over 50 years have progressed to CKD, and 14% of all patients progressed to ESKD. It is not quite well understood why males run a much higher risk to progress to CKD, compared to women. ..
- Csincsi Ã, Kopp A, ZÃ¶ldi M, BÃ¡nlaki Z, Uzonyi B, Hebecker M, et al. Factor H-related protein 5 interacts with pentraxin 3 and the extracellular matrix and modulates complement activation. J Immunol. 2015;194:4963-73 pubmed publisher..Thus, CFHR5 may locally enhance complement activation via interference with the complement-inhibiting function of FH, by enhancement of C1q binding, and by activating complement, thereby contributing to glomerular disease. ..
- Westra D, Vernon K, Volokhina E, Pickering M, van de Kar N, van den Heuvel L. Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene. J Hum Genet. 2012;57:459-64 pubmed publisher..The identified CFHR5 mutations require functional studies to determine their relevance to aHUS, but they might be candidates for an altered genetic profile predisposing to the disease. ..
- 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..Since CFHR5(1212-9) can result from at least two genomic rearrangements, screening is most readily achieved through analysis of CFHR5 protein. ..
- Pirozzi N, Stoppacciaro A, Menè P. Dominant C3 glomerulopathy: new roles for an old actor in renal pathology. J Nephrol. 2018;31:503-510 pubmed publisher..We will briefly review recent work in this area, focusing on GN with selective complement C3 deposits. ..
- Togarsimalemath S, Sethi S, Duggal R, Le Quintrec M, Jha P, Daniel R, et al. A novel CFHR1-CFHR5 hybrid leads to a familial dominant C3 glomerulopathy. Kidney Int. 2017;92:876-887 pubmed publisher..Such hybrids described till now were always associated with familial forms. ..
- Närkiö Mäkelä M, Hellwage J, Tahkokallio O, Meri S. Complement-regulator factor H and related proteins in otitis media with effusion. Clin Immunol. 2001;100:118-26 pubmed..Thus they may compete with FH in binding to C3b and interfere with the regulatory activity of FH. Consequently, a disturbance in AP control in the MEE may lead to an ongoing excessive C activation and inflammation in OME. ..
- Naj A, Scott W, Courtenay M, Cade W, Schwartz S, Kovach J, et al. Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. Ann Hum Genet. 2013;77:215-31 pubmed publisher..57, P = 2.73 × 10(-5) ), with an inverse association among smokers (OR = 1.42, P = 0.00228), suggesting that smoking modifies the effect of some genetic polymorphisms on AMD risk. ..