complement factor h


Summary: An important soluble regulator of the alternative pathway of complement activation (COMPLEMENT ACTIVATION PATHWAY, ALTERNATIVE). It is a 139-kDa glycoprotein expressed by the liver and secreted into the blood. It binds to COMPLEMENT C3B and makes iC3b (inactivated complement 3b) susceptible to cleavage by COMPLEMENT FACTOR I. Complement factor H also inhibits the association of C3b with COMPLEMENT FACTOR B to form the C3bB proenzyme, and promotes the dissociation of Bb from the C3bBb complex (COMPLEMENT C3 CONVERTASE, ALTERNATIVE PATHWAY).

Top Publications

  1. Jirarattanasopa P, Ooto S, Nakata I, Tsujikawa A, Yamashiro K, Oishi A, et al. Choroidal thickness, vascular hyperpermeability, and complement factor H in age-related macular degeneration and polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci. 2012;53:3663-72 pubmed publisher
    ..the relationship between subfoveal choroidal thickness, choroidal vascular hyperpermeability, and complement factor H (CFH) gene polymorphism in typical age-related macular degeneration (AMD) and polypoidal choroidal ..
  2. Shaughnessy J, Ram S, Bhattacharjee A, Pedrosa J, Tran C, Horvath G, et al. Molecular characterization of the interaction between sialylated Neisseria gonorrhoeae and factor H. J Biol Chem. 2011;286:22235-42 pubmed publisher
    ..These findings provide further insights into the species specificity of gonococcal infections and proof-of-concept of a novel therapeutic approach against gonorrhea, a disease rapidly becoming resistant to conventional antibiotics...
  3. Goodship T, Pappworth I, Toth T, Denton M, Houlberg K, McCormick F, et al. Factor H autoantibodies in membranoproliferative glomerulonephritis. Mol Immunol. 2012;52:200-6 pubmed publisher
    ..Antibody depleting therapy may have a role in such patients and we suggest that screening for factor H autoantibodies should be undertaken in all patients with MPGN. ..
  4. Alexander J, Chaves L, Chang A, Quigg R. The C5a receptor has a key role in immune complex glomerulonephritis in complement factor H-deficient mice. Kidney Int. 2012;82:961-8 pubmed publisher
    ..formation of glomerular immune complexes; however, C57BL/6 mice do not develop glomerulonephritis unless complement factor H (CFH) is absent from the plasma. Here we studied the role for C5a receptor (R) in this setting...
  5. Xie L, Nester C, Reed A, Zhang Y, Smith R, Thomas C. Tailored eculizumab therapy in the management of complement factor H-mediated atypical hemolytic uremic syndrome in an adult kidney transplant recipient: a case report. Transplant Proc. 2012;44:3037-40 pubmed publisher
    ..b>Complement factor H (CFH) mutations cause 25% of aHUS cases; these patients have an 80% recurrence risk after kidney ..
  6. Clark S, Ridge L, Herbert A, Hakobyan S, Mulloy B, Lennon R, et al. Tissue-specific host recognition by complement factor H is mediated by differential activities of its glycosaminoglycan-binding regions. J Immunol. 2013;190:2049-57 pubmed publisher
    b>Complement factor H (CFH) regulates complement activation in host tissues through its recognition of polyanions, which mediate CFH binding to host cell surfaces and extracellular matrix, promoting the deactivation of deposited C3b...
  7. Nischler C, Oberkofler H, Ortner C, Paikl D, Riha W, Lang N, et al. Complement factor H Y402H gene polymorphism and response to intravitreal bevacizumab in exudative age-related macular degeneration. Acta Ophthalmol. 2011;89:e344-9 pubmed publisher
    To determine whether different complement factor H (CFH) genotypes play a role in treatment of age-related macular degeneration (AMD) with intravitreal bevacizumab...
  8. Seib K, Brunelli B, Brogioni B, Palumbo E, Bambini S, Muzzi A, et al. Characterization of diverse subvariants of the meningococcal factor H (fH) binding protein for their ability to bind fH, to mediate serum resistance, and to induce bactericidal antibodies. Infect Immun. 2011;79:970-81 pubmed publisher
    ..Furthermore, cross-reactive bactericidal activity was seen within each variant group, although the degree of activity varied, suggesting that amino acid differences within each variant group influence the bactericidal antibody response. ..
  9. Vernon K, Gale D, de Jorge E, McLean A, Galliford J, Pierides A, et al. Recurrence of complement factor H-related protein 5 nephropathy in a renal transplant. Am J Transplant. 2011;11:152-5 pubmed publisher
    b>Complement factor H-related protein 5 (CFHR5) nephropathy is a familial renal disease endemic in Cyprus. It is characterized by persistent microscopic hematuria, synpharyngitic macroscopic hematuria and progressive renal impairment...

More Information


  1. Silva A, Teixeira A, Bavia L, Lin F, Velletri R, Belfort R, et al. Plasma levels of complement proteins from the alternative pathway in patients with age-related macular degeneration are independent of Complement Factor H Tyr??²His polymorphism. Mol Vis. 2012;18:2288-99 pubmed
    ..Patients with AMD present altered levels of FD and FI in a manner independent of this CFH polymorphism, and gender apparently contributes to the plasma levels of these two proteins in patients with AMD and control individuals. ..
  2. Buentello Volante B, Rodriguez Ruiz G, Miranda Duarte A, Pompa Mera E, Graue Wiechers F, Bekker Mendez C, et al. Susceptibility to advanced age-related macular degeneration and alleles of complement factor H, complement factor B, complement component 2, complement component 3, and age-related maculopathy susceptibility 2 genes in a Mexican population. Mol Vis. 2012;18:2518-25 pubmed
    To investigate the association of age-related macular degeneration (AMD)-high risk alleles of the complement factor H (CFH), complement factor B (CFB), complement component 2 (C2), complement component 3 (C3), and age-related maculopathy ..
  3. Kajander T, Lehtinen M, Hyvärinen S, Bhattacharjee A, Leung E, Isenman D, et al. Dual interaction of factor H with C3d and glycosaminoglycans in host-nonhost discrimination by complement. Proc Natl Acad Sci U S A. 2011;108:2897-902 pubmed publisher
    ..This explains the molecular basis of atypical hemolytic uremic syndrome, where mutations on the binding interfaces between FH19-20 and C3d or between FH20 and glycosaminoglycans lead to complement attack against host surfaces. ..
  4. 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
  5. Ruseva M, Vernon K, Lesher A, Schwaeble W, Ali Y, Botto M, et al. Loss of properdin exacerbates C3 glomerulopathy resulting from factor H deficiency. J Am Soc Nephrol. 2013;24:43-52 pubmed publisher
    b>Complement factor H (CFH) is a negative regulator of the alternative pathway of complement, and properdin is the sole positive regulator...
  6. Chen J, Yang Y, Zheng Y, Qiu M, Xie M, Lin W, et al. No association of age-related maculopathy susceptibility protein 2/HtrA serine peptidase 1 or complement factor H polymorphisms with early age-related maculopathy in a Chinese cohort. Mol Vis. 2013;19:944-54 pubmed
    ..SNPs) of age-related maculopathy susceptibility protein 2/HtrA serine peptidase 1 (ARMS2/HTRA1) and complement factor H (CFH) have been reported to be associated with age-related macular degeneration (AMD)...
  7. Li Y, Alexandrov P, Pogue A, Zhao Y, Bhattacharjee S, Lukiw W. miRNA-155 upregulation and complement factor H deficits in Down's syndrome. Neuroreport. 2012;23:168-73 pubmed publisher
    ..of a chromosome 21-encoded miRNA-155 and a decrease in the abundance of the miRNA-155 mRNA target complement factor H (CFH), an important repressor of the innate immune response...
  8. Morgan H, Schmidt C, Guariento M, Blaum B, Gillespie D, Herbert A, et al. Structural basis for engagement by complement factor H of C3b on a self surface. Nat Struct Mol Biol. 2011;18:463-70 pubmed publisher
    b>Complement factor H (FH) attenuates C3b molecules tethered by their thioester domains to self surfaces and thereby protects host tissues...
  9. Delcourt C, Delyfer M, Rougier M, Amouyel P, Colin J, Le Goff M, et al. Associations of complement factor H and smoking with early age-related macular degeneration: the ALIENOR study. Invest Ophthalmol Vis Sci. 2011;52:5955-62 pubmed publisher
    To assess the associations of complement factor H (CFH) Y402H polymorphism and smoking with specific features of early AMD (type, location, and area)...
  10. Lesher A, Zhou L, Kimura Y, Sato S, Gullipalli D, Herbert A, et al. Combination of factor H mutation and properdin deficiency causes severe C3 glomerulonephritis. J Am Soc Nephrol. 2013;24:53-65 pubmed publisher
    ..These results show that therapeutic manipulation of the complement system requires rigorous disease-specific target validation. ..
  11. Servais A, Noel L, Roumenina L, Le Quintrec M, Ngo S, Dragon Durey M, et al. Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies. Kidney Int. 2012;82:454-64 pubmed publisher
    ..The complement factor H Y402H variant was significantly increased in dense deposit disease...
  12. Beernink P, Shaughnessy J, Braga E, Liu Q, Rice P, Ram S, et al. A meningococcal factor H binding protein mutant that eliminates factor H binding enhances protective antibody responses to vaccination. J Immunol. 2011;186:3606-14 pubmed publisher
  13. Tanaka K, Nakayama T, Mori R, Sato N, Kawamura A, Mizutani Y, et al. Associations of complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) genotypes with subtypes of polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci. 2011;52:7441-4 pubmed publisher
    To clarify whether complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) genotypes are associated with subtypes of polypoidal choroidal vasculopathy (PCV), such as polypoidal choroidal neovascularization (CNV) ..
  14. Hurtado O, Serrano J, Sobrado M, Fernandez A, Lizasoain I, Martinez Murillo R, et al. Lack of adrenomedullin, but not complement factor H, results in larger infarct size and more extensive brain damage in a focal ischemia model. Neuroscience. 2010;171:885-92 pubmed publisher
    Adrenomedullin (AM) and its binding protein, complement factor H (FH), are expressed throughout the brain...
  15. Yuan D, Yang Q, Liu X, Yuan D, Yuan S, Xie P, et al. Complement factor H Val62Ile variant and risk of age-related macular degeneration: a meta-analysis. Mol Vis. 2013;19:374-83 pubmed
    To evaluate the precise association of complement factor H (CFH) Val62Ile polymorphism with age-related macular degeneration (AMD) susceptibility...
  16. Kloeckener Gruissem B, Barthelmes D, Labs S, Schindler C, Kurz Levin M, Michels S, et al. Genetic association with response to intravitreal ranibizumab in patients with neovascular AMD. Invest Ophthalmol Vis Sci. 2011;52:4694-702 pubmed publisher
    ..Genetic predisposition may account for the variability in response to anti-VEGF treatment. ..
  17. Fervenza F, Smith R, Sethi S. Association of a novel complement factor H mutation with severe crescentic and necrotizing glomerulonephritis. Am J Kidney Dis. 2012;60:126-32 pubmed publisher
    ..Alternative pathway evaluation showed a novel mutation in short consensus repeat (SCR) 19 of complement factor H. In addition, the patient carried complement factor H and C3 risk alleles...
  18. de Jorge E, Macor P, Paixao Cavalcante D, Rose K, Tedesco F, Cook H, et al. The development of atypical hemolytic uremic syndrome depends on complement C5. J Am Soc Nephrol. 2011;22:137-45 pubmed publisher
    ..b>Complement factor H (CFH) is the major regulator of complement activation through the alternative pathway...
  19. Ermini L, Goodship T, Strain L, Weale M, Sacks S, Cordell H, et al. Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS. Mol Immunol. 2012;49:640-8 pubmed publisher
    ..Haplotype analysis showed at-risk and protective haplotypes in both CD46 and CFH. The CD46 haplotype was only disease-associated in those patients with mutations. ..
  20. Sivakumaran T, Igo R, Kidd J, Itsara A, Kopplin L, Chen W, et al. A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. PLoS ONE. 2011;6:e25598 pubmed publisher
    b>Complement factor H shows very strong association with Age-related Macular Degeneration (AMD), and recent data suggest that multiple causal variants are associated with disease...
  21. Martinez Barricarte R, Heurich M, Valdes Cañedo F, Vazquez Martul E, Torreira E, Montes T, et al. Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation. J Clin Invest. 2010;120:3702-12 pubmed publisher
  22. Tschumi S, Gugger M, Bucher B, Riedl M, Simonetti G. Eculizumab in atypical hemolytic uremic syndrome: long-term clinical course and histological findings. Pediatr Nephrol. 2011;26:2085-8 pubmed publisher
    ..This case illustrates the long-term favorable outcome of aHUS with eculizumab treatment. ..
  23. Miki A, Honda S, Kondo N, Negi A. The association of age-related maculopathy susceptibility 2 (ARMS2) and complement factor H (CFH) variants with two angiographic subtypes of polypoidal choroidal vasculopathy. Ophthalmic Genet. 2013;34:146-50 pubmed publisher
    To compare the association of age-related maculopathy susceptibility 2 (ARMS2) and complement factor H (CFH) variants between two different angiographic phenotypes of polypoidal choroidal vasculopathy (PCV)...
  24. Lyzogubov V, Tytarenko R, Jha P, Liu J, Bora N, Bora P. Role of ocular complement factor H in a murine model of choroidal neovascularization. Am J Pathol. 2010;177:1870-80 pubmed publisher
    The objective of this study was to explore the relationship between local (ie, ocular) complement factor H (CFH) and choroidal neovascularization (CNV) associated with wet age-related macular degeneration (AMD), a leading cause of ..
  25. Sharp J, Cunnion K. Disruption of the alternative pathway convertase occurs at the staphylococcal surface via the acquisition of factor H by Staphylococcus aureus. Mol Immunol. 2011;48:683-90 pubmed publisher
    ..aureus surface inhibits complement-mediated opsonization via disruption of the alternative pathway convertase; thus, we report an immune-evasion mechanism not previously described for S. aureus. ..
  26. Makou E, Herbert A, Barlow P. Functional anatomy of complement factor H. Biochemistry. 2013;52:3949-62 pubmed publisher
    ..Such models suggest hypotheses linking sequence variations to pathophysiology, but improved, more quantitative, functional assays and rigorous data analysis are required to test these ideas. ..
  27. Kavanagh D, Anderson H. Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome. Kidney Int. 2012;81:11-3 pubmed publisher
    ..Allied research groups have analyzed these VUSs in aHUS. ..
  28. Perkins S, Nan R, Okemefuna A, Li K, Khan S, Miller A. Multiple interactions of complement Factor H with its ligands in solution: a progress report. Adv Exp Med Biol. 2010;703:25-47 pubmed publisher
    ..Overall, our results to date suggest that the FH interactions involving zinc and native CRP have the closest relevance for explaining the onset of AMD. ..
  29. Leveziel N, Tilleul J, Puche N, Zerbib J, Laloum F, Querques G, et al. Genetic factors associated with age-related macular degeneration. Ophthalmologica. 2011;226:87-102 pubmed publisher
    ..This review emphasizes the clinical impact of the major genetic factors mainly located in the complement factor H gene and on the 10q26 locus, and their current and future implications for the management of AMD.
  30. Strobel S, Abarrategui Garrido C, Fariza Requejo E, Seeberger H, Sanchez Corral P, Jozsi M. Factor H-related protein 1 neutralizes anti-factor H autoantibodies in autoimmune hemolytic uremic syndrome. Kidney Int. 2011;80:397-404 pubmed publisher
    ..Thus, exogenous CFHR1 provided during plasma exchange therapy may neutralize anti-factor H autoantibodies and help in the treatment of autoimmune atypical HUS. ..
  31. Told R, Palkovits S, Haslacher H, Frantal S, Schmidl D, Boltz A, et al. Alterations of choroidal blood flow regulation in young healthy subjects with complement factor H polymorphism. PLoS ONE. 2013;8:e60424 pubmed publisher
    A common polymorphism in the complement factor H gene (rs1061170, Y402H) is associated with a high risk of age-related macular degeneration (AMD)...
  32. Clark S, Bishop P, Day A. Complement factor H and age-related macular degeneration: the role of glycosaminoglycan recognition in disease pathology. Biochem Soc Trans. 2010;38:1342-8 pubmed publisher
    ..cellular debris and proteins, including components of the complement system such as the regulator CFH (complement factor H); dysregulation of complement is thought to play a major role in the development of AMD...
  33. Siegel C, Hallström T, Skerka C, Eberhardt H, Uzonyi B, Beckhaus T, et al. Complement factor H-related proteins CFHR2 and CFHR5 represent novel ligands for the infection-associated CRASP proteins of Borrelia burgdorferi. PLoS ONE. 2010;5:e13519 pubmed publisher
    ..burgdorferi. ..
  34. Shaw P, Zhang L, Zhang M, Du H, Zhao L, Lee C, et al. Complement factor H genotypes impact risk of age-related macular degeneration by interaction with oxidized phospholipids. Proc Natl Acad Sci U S A. 2012;109:13757-62 pubmed publisher
    The rs1061170T/C variant encoding the Y402H change in complement factor H (CFH) has been identified by genome-wide association studies as being significantly associated with age-related macular degeneration (AMD)...
  35. Fleury C, Su Y, Hallstr m T, Sandblad L, Zipfel P, Riesbeck K. Identification of a Haemophilus influenzae factor H-Binding lipoprotein involved in serum resistance. J Immunol. 2014;192:5913-23 pubmed publisher
    ..influenzae and FH. This novel interaction is important for H. influenzae resistance against complement activation and will consequently promote bacterial pathogenesis...
  36. Wyatt M, Tsai J, Mishra S, Campos M, Jaworski C, Fariss R, et al. Interaction of complement factor h and fibulin3 in age-related macular degeneration. PLoS ONE. 2013;8:e68088 pubmed publisher
    ..A sequence variant (Y402H) in short consensus repeat domain 7 (SCR7) of complement factor H (CFH) is associated with risk for "dry" AMD...
  37. Kavanagh D, Pappworth I, Anderson H, Hayes C, Moore I, Hunze E, et al. Factor I autoantibodies in patients with atypical hemolytic uremic syndrome: disease-associated or an epiphenomenon?. Clin J Am Soc Nephrol. 2012;7:417-26 pubmed publisher
    ..Two patients, however, had functionally significant mutations in complement factor H. These findings reinforce the concept of multiple concurrent risk factors being associated with atypical ..
  38. Smailhodzic D, Klaver C, Klevering B, Boon C, Groenewoud J, Kirchhof B, et al. Risk alleles in CFH and ARMS2 are independently associated with systemic complement activation in age-related macular degeneration. Ophthalmology. 2012;119:339-46 pubmed publisher
    ..with age-related macular degeneration (AMD) and has mainly been attributed to a risk allele in the complement factor H (CFH) gene. Whether other important AMD genes also influence complement activation is unclear...
  39. Machalinska A, Kawa M, Marlicz W, Machaliński B. Complement system activation and endothelial dysfunction in patients with age-related macular degeneration (AMD): possible relationship between AMD and atherosclerosis. Acta Ophthalmol. 2012;90:695-703 pubmed publisher
    ..We also discuss the potential therapeutic value of pharmacological modulation of CS activation in these disorders. ..
  40. 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
    ..Combined deletion of CFHR3 and CFHR1 was associated with a decreased risk of developing AMD. Other deletions were not sufficiently common to have a statistically detectable impact on the risk of AMD, and duplications were not observed. ..
  41. Giuntini S, Reason D, Granoff D. Complement-mediated bactericidal activity of anti-factor H binding protein monoclonal antibodies against the meningococcus relies upon blocking factor H binding. Infect Immun. 2011;79:3751-9 pubmed publisher
    ..The ability of fHbp vaccines to elicit protective antibodies, therefore, is likely to be enhanced if the antibody repertoire is of high avidity and includes fH-blocking activity. ..
  42. DeAngelis M, Silveira A, Carr E, Kim I. Genetics of age-related macular degeneration: current concepts, future directions. Semin Ophthalmol. 2011;26:77-93 pubmed publisher
    ..Moreover, these studies provide the foundation for further investigation into the pathophysiology of AMD by utilizing a systems-biology-based approach to elucidate underlying mechanistic pathways. ..
  43. Koehl B, Boyer O, Biebuyck Gouge N, Kossorotoff M, Fremeaux Bacchi V, Boddaert N, et al. Neurological involvement in a child with atypical hemolytic uremic syndrome. Pediatr Nephrol. 2010;25:2539-42 pubmed publisher
    ..In conclusion, brain MRI allows differentiating thrombotic microangiopathy lesions from RPLS in atypical HUS, which is crucial since lesions may be reversible with plasmatherapy. ..
  44. Sethi S, Fervenza F, Zhang Y, Smith R. Secondary focal and segmental glomerulosclerosis associated with single-nucleotide polymorphisms in the genes encoding complement factor H and C3. Am J Kidney Dis. 2012;60:316-21 pubmed publisher
    ..of the alternative pathway of complement showed a novel polymorphism in short consensus repeat (SCR) 12 of complement factor H (CFH; c.2195C>T, p...
  45. Schmidt C, Slingsby F, Richards A, Barlow P. Production of biologically active complement factor H in therapeutically useful quantities. Protein Expr Purif. 2011;76:254-63 pubmed publisher
    Human complement factor H (FH), an abundant 155-kDa plasma glycoprotein with 40 disulphide bonds, regulates the alternative-pathway complement cascade...
  46. Bao L, Haas M, Quigg R. Complement factor H deficiency accelerates development of lupus nephritis. J Am Soc Nephrol. 2011;22:285-95 pubmed publisher
    b>Complement factor H (CfH) is a key regulator of the alternative pathway, and its presence on mouse platelets and podocytes allows the processing of immune complexes...
  47. Perkins S, Nan R, Li K, Khan S, Abe Y. Analytical ultracentrifugation combined with X-ray and neutron scattering: Experiment and modelling. Methods. 2011;54:181-99 pubmed publisher
    ..If a large protein or its complex cannot be crystallised, the joint ultracentrifugation-scattering approach provides a means to obtain an overall macromolecular structure. ..
  48. Weitz M, Amon O, Bassler D, Koenigsrainer A, Nadalin S. Prophylactic eculizumab prior to kidney transplantation for atypical hemolytic uremic syndrome. Pediatr Nephrol. 2011;26:1325-9 pubmed publisher
    ..b>Complement factor H (FH) heterozygosity induces unregulated activation of the membrane attack complex (MAC) C5b-9...
  49. Kopp A, Strobel S, Tortajada A, Rodriguez de Cordoba S, Sanchez Corral P, Prohaszka Z, et al. Atypical hemolytic uremic syndrome-associated variants and autoantibodies impair binding of factor h and factor h-related protein 1 to pentraxin 3. J Immunol. 2012;189:1858-67 pubmed publisher
  50. Sethi S, Fervenza F, Zhang Y, Nasr S, Leung N, Vrana J, et al. Proliferative glomerulonephritis secondary to dysfunction of the alternative pathway of complement. Clin J Am Soc Nephrol. 2011;6:1009-17 pubmed publisher
    ..Laser microdissection and mass spectrometry of glomeruli of GN-C3 (two cases) showed a proteomic profile very similar to DDD. These studies implicate AP dysregulation in a spectrum of rare renal diseases that includes GN-C3 and DDD. ..
  51. Cui T, Chen Y, Knösel T, Yang L, Zöller K, Galler K, et al. Human complement factor H is a novel diagnostic marker for lung adenocarcinoma. Int J Oncol. 2011;39:161-8 pubmed publisher
    Human complement factor H (CFH), a central complement control protein, is a member of the regulators of complement activation family...
  52. Tanaka K, Nakayama T, Yuzawa M, Wang Z, Kawamura A, Mori R, et al. Analysis of candidate genes for age-related macular degeneration subtypes in the Japanese population. Mol Vis. 2011;17:2751-8 pubmed
    ..We genotyped 685 AMD patients and 277 controls for four SNPs of the selected candidate genes: rs800292 in complement factor H, rs10490924 in age-related maculopathy susceptibility 2 (ARMS2), rs2301995 in elastin (ELN), and rs1801133 ..
  53. Kopplin L, Igo R, Wang Y, Sivakumaran T, Hagstrom S, Peachey N, et al. Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. Genes Immun. 2010;11:609-21 pubmed publisher
    ..In addition to the complement factor H (CFH) (P=2.3 × 10???) and age-related maculopathy susceptibility 2 (ARMS2) (P=1...