메뉴 건너뛰기




Volumn 19, Issue 23, 2010, Pages 4694-4704

An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)

Author keywords

[No Author keywords available]

Indexed keywords

CLASSICAL COMPLEMENT PATHWAY C3 C5 CONVERTASE; COMPLEMENT COMPONENT C3; COMPLEMENT COMPONENT C5A; COMPLEMENT FACTOR H; PROTEIN CFHR1; PROTEIN CFHR3; UNCLASSIFIED DRUG;

EID: 78149270873     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq399     Document Type: Article
Times cited : (173)

References (38)
  • 6
    • 33750201885 scopus 로고    scopus 로고
    • CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses
    • Conley, Y.P., Jakobsdottir, J., Mah, T., Weeks, D.E., Klein, R., Kuller, L., Ferrell, R.E. and Gorin, M.B. (2006) CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. Hum. Mol. Genet., 15, 3206-3218.
    • (2006) Hum. Mol. Genet. , vol.15 , pp. 3206-3218
    • Conley, Y.P.1    Jakobsdottir, J.2    Mah, T.3    Weeks, D.E.4    Klein, R.5    Kuller, L.6    Ferrell, R.E.7    Gorin, M.B.8
  • 9
    • 34447581121 scopus 로고    scopus 로고
    • Biochemical analysis of a common human polymorphism associated with age-related macular degeneration
    • Yu, J., Wiita, P., Kawaguchi, R., Honda, J., Jorgensen, A., Zhang, K., Fischetti, V.A. and Sun, H. (2007) Biochemical analysis of a common human polymorphism associated with age-related macular degeneration. Biochemistry, 46, 8451-8461.
    • (2007) Biochemistry , vol.46 , pp. 8451-8461
    • Yu, J.1    Wiita, P.2    Kawaguchi, R.3    Honda, J.4    Jorgensen, A.5    Zhang, K.6    Fischetti, V.A.7    Sun, H.8
  • 10
    • 33749123246 scopus 로고    scopus 로고
    • A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration
    • Hughes, A.E., Orr, N., Esfandiary, H., Diaz-Torres, M., Goodship, T. and Chakravarthy, U. (2006) A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Nat. Genet., 38, 1173-1177.
    • (2006) Nat. Genet. , vol.38 , pp. 1173-1177
    • Hughes, A.E.1    Orr, N.2    Esfandiary, H.3    Diaz-Torres, M.4    Goodship, T.5    Chakravarthy, U.6
  • 11
  • 14
    • 38949155911 scopus 로고    scopus 로고
    • Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency
    • Jozsi, M., Licht, C., Strobel, S., Zipfel, S.L., Richter, H., Heinen, S., Zipfel, P.F. and Skerka, C. (2008) Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. Blood, 111, 1512-1514.
    • (2008) Blood , vol.111 , pp. 1512-1514
    • Jozsi, M.1    Licht, C.2    Strobel, S.3    Zipfel, S.L.4    Richter, H.5    Heinen, S.6    Zipfel, P.F.7    Skerka, C.8
  • 15
    • 34548853385 scopus 로고    scopus 로고
    • Anti factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome
    • Jozsi, M., Strobel, S., Dahse, H.M., Liu, W.S., Hoyer, P.F., Oppermann, M., Skerka, C. and Zipfel, P.F. (2007) Anti factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome. Blood, 110, 1516-1518.
    • (2007) Blood , vol.110 , pp. 1516-1518
    • Jozsi, M.1    Strobel, S.2    Dahse, H.M.3    Liu, W.S.4    Hoyer, P.F.5    Oppermann, M.6    Skerka, C.7    Zipfel, P.F.8
  • 17
    • 0032923855 scopus 로고    scopus 로고
    • A radiation hybrid map of complement factor H and factor H-related genes
    • Diaz-Guillen, M.A., Rodriguez de Cordoba, S. and Heine-Suner, D. (1999) A radiation hybrid map of complement factor H and factor H-related genes. Immunogenetics, 49, 549-552.
    • (1999) Immunogenetics , vol.49 , pp. 549-552
    • Diaz-Guillen, M.A.1    Rodriguez de Cordoba, S.2    Heine-Suner, D.3
  • 18
    • 0034100951 scopus 로고    scopus 로고
    • Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes
    • Male, D.A., Ormsby, R.J., Ranganathan, S., Giannakis, E. and Gordon, D.L. (2000) Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes. Mol. Immunol., 37, 41-52.
    • (2000) Mol. Immunol. , vol.37 , pp. 41-52
    • Male, D.A.1    Ormsby, R.J.2    Ranganathan, S.3    Giannakis, E.4    Gordon, D.L.5
  • 19
    • 57649230771 scopus 로고    scopus 로고
    • Complement factor H related proteins in immune diseases
    • Skerka, C. and Zipfel, P.F. (2008) Complement factor H related proteins in immune diseases. Vaccine, 26, I9-I14.
    • (2008) Vaccine , vol.26
    • Skerka, C.1    Zipfel, P.F.2
  • 20
    • 0026047501 scopus 로고
    • Molecular cloning of a human serum protein structurally related to complement factor H
    • Skerka, C., Horstmann, R.D. and Zipfel, P.F. (1991) Molecular cloning of a human serum protein structurally related to complement factor H. J. Biol. Chem., 266, 12015-12020.
    • (1991) J. Biol. Chem. , vol.266 , pp. 12015-12020
    • Skerka, C.1    Horstmann, R.D.2    Zipfel, P.F.3
  • 21
    • 0027450002 scopus 로고
    • A novel short consensus repeat-containing molecule is related to human complement factor H
    • Skerka, C., Kuhn, S., Gunther, K., Lingelbach, K. and Zipfel, P.F. (1993) A novel short consensus repeat-containing molecule is related to human complement factor H. J. Biol. Chem., 268, 2904-2908.
    • (1993) J. Biol. Chem. , vol.268 , pp. 2904-2908
    • Skerka, C.1    Kuhn, S.2    Gunther, K.3    Lingelbach, K.4    Zipfel, P.F.5
  • 22
    • 0029998347 scopus 로고    scopus 로고
    • Plasma lipopolysaccharide-binding protein is found associated with a particle containing apolipoprotein A-I, phospholipid, and factor H-related proteins
    • Park, C.T. and Wright, S.D. (1996) Plasma lipopolysaccharide-binding protein is found associated with a particle containing apolipoprotein A-I, phospholipid, and factor H-related proteins. J. Biol. Chem., 271, 18054-18060.
    • (1996) J. Biol. Chem. , vol.271 , pp. 18054-18060
    • Park, C.T.1    Wright, S.D.2
  • 23
    • 70349437186 scopus 로고    scopus 로고
    • Complement regulators and inhibitory proteins
    • Zipfel, P.F. and Skerka, C. (2009) Complement regulators and inhibitory proteins. Nat. Rev., 9, 729-740.
    • (2009) Nat. Rev. , vol.9 , pp. 729-740
    • Zipfel, P.F.1    Skerka, C.2
  • 24
    • 43549091327 scopus 로고    scopus 로고
    • Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration
    • Francis, P.J., Schultz, D.W., Hamon, S., Ott, J., Weleber, R.G. and Klein, M.L. (2007) Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration. PloS ONE, 2, e1197.
    • (2007) PloS ONE , vol.2
    • Francis, P.J.1    Schultz, D.W.2    Hamon, S.3    Ott, J.4    Weleber, R.G.5    Klein, M.L.6
  • 25
    • 33748325757 scopus 로고    scopus 로고
    • CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration
    • Li, M., Atmaca-Sonmez, P., Othman, M., Branham, K.E., Khanna, R., Wade, M.S., Li, Y., Liang, L., Zareparsi, S., Swaroop, A. et al. (2006) CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat. Genet., 38, 1049-1054.
    • (2006) Nat. Genet. , vol.38 , pp. 1049-1054
    • Li, M.1    Atmaca-Sonmez, P.2    Othman, M.3    Branham, K.E.4    Khanna, R.5    Wade, M.S.6    Li, Y.7    Liang, L.8    Zareparsi, S.9    Swaroop, A.10
  • 27
    • 76949087440 scopus 로고    scopus 로고
    • Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome
    • Abarrategui-Garrido, C., Martinez-Barricarte, R., Lopez-Trascasa, M., de Cordoba, S.R. and Sanchez-Corral, P. (2009) Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome. Blood, 114, 4261-4271.
    • (2009) Blood , vol.114 , pp. 4261-4271
    • Abarrategui-Garrido, C.1    Martinez-Barricarte, R.2    Lopez-Trascasa, M.3    de Cordoba, S.R.4    Sanchez-Corral, P.5
  • 28
    • 33847153137 scopus 로고    scopus 로고
    • 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
    • Hageman, G.S., Hancox, L.S., Taiber, A.J., Gehrs, K.M., Anderson, D.H., Johnson, L.V., Radeke, M.J., Kavanagh, D., Richards, A., Atkinson, J. et al. (2006) 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., 38, 592-604.
    • (2006) Ann. Med. , vol.38 , pp. 592-604
    • Hageman, G.S.1    Hancox, L.S.2    Taiber, A.J.3    Gehrs, K.M.4    Anderson, D.H.5    Johnson, L.V.6    Radeke, M.J.7    Kavanagh, D.8    Richards, A.9    Atkinson, J.10
  • 29
    • 33748309136 scopus 로고    scopus 로고
    • Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration
    • Maller, J., George, S., Purcell, S., Fagerness, J., Altshuler, D., Daly, M.J. and Seddon, J.M. (2006) Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat. Genet., 38, 1055-1059.
    • (2006) Nat. Genet. , vol.38 , pp. 1055-1059
    • Maller, J.1    George, S.2    Purcell, S.3    Fagerness, J.4    Altshuler, D.5    Daly, M.J.6    Seddon, J.M.7
  • 30
    • 0032742373 scopus 로고    scopus 로고
    • 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
    • Hellwage, J., Jokiranta, T.S., Koistinen, V., Vaarala, O., Meri, S. and Zipfel, P.F. (1999) 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., 462, 345-352.
    • (1999) FEBS Lett. , vol.462 , pp. 345-352
    • Hellwage, J.1    Jokiranta, T.S.2    Koistinen, V.3    Vaarala, O.4    Meri, S.5    Zipfel, P.F.6
  • 31
    • 67649230210 scopus 로고    scopus 로고
    • Structure of complement fragment C3b-factor H and implications for host protection by complement regulators
    • Wu, J., Wu, Y.Q., Ricklin, D., Janssen, B.J., Lambris, J.D. and Gros, P. (2009) Structure of complement fragment C3b-factor H and implications for host protection by complement regulators. Nat. Immunol., 10, 728-733.
    • (2009) Nat. Immunol. , vol.10 , pp. 728-733
    • Wu, J.1    Wu, Y.Q.2    Ricklin, D.3    Janssen, B.J.4    Lambris, J.D.5    Gros, P.6
  • 33
    • 34548849449 scopus 로고    scopus 로고
    • Factor H mediated cell surface protection from complement is critical for the survival of PNH erythrocytes
    • Ferreira, V.P. and Pangburn, M.K. (2007) Factor H mediated cell surface protection from complement is critical for the survival of PNH erythrocytes. Blood, 110, 2190-2192.
    • (2007) Blood , vol.110 , pp. 2190-2192
    • Ferreira, V.P.1    Pangburn, M.K.2
  • 34
    • 27744462212 scopus 로고    scopus 로고
    • Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk
    • Rivera, A., Fisher, S.A., Fritsche, L.G., Keilhauer, C.N., Lichtner, P., Meitinger, T. and Weber, B.H. (2005) Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum. Mol. Genet., 14, 3227-3236.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 3227-3236
    • Rivera, A.1    Fisher, S.A.2    Fritsche, L.G.3    Keilhauer, C.N.4    Lichtner, P.5    Meitinger, T.6    Weber, B.H.7
  • 36
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: analysis and visualization of LD and haplotype maps
    • Barrett, J.C., Fry, B., Maller, J. and Daly, M.J. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics, 21,263-265.
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 37
    • 41649094148 scopus 로고    scopus 로고
    • Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data
    • Dudbridge, F. (2008) Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data. Hum. Hered., 66, 87-98.
    • (2008) Hum. Hered. , vol.66 , pp. 87-98
    • Dudbridge, F.1
  • 38
    • 37749038976 scopus 로고    scopus 로고
    • Immune evasion of the human pathogen Pseudomonas aeruginosa: elongation factor Tuf is a factor H and plasminogen binding protein
    • Kunert, A., Losse, J., Gruszin, C., Huhn, M., Kaendler, K., Mikkat, S., Volke, D., Hoffmann, R., Jokiranta, T.S., Seeberger, H. et al. (2007) Immune evasion of the human pathogen Pseudomonas aeruginosa: elongation factor Tuf is a factor H and plasminogen binding protein. J. Immunol., 179, 2979-2988.
    • (2007) J. Immunol. , vol.179 , pp. 2979-2988
    • Kunert, A.1    Losse, J.2    Gruszin, C.3    Huhn, M.4    Kaendler, K.5    Mikkat, S.6    Volke, D.7    Hoffmann, R.8    Jokiranta, T.S.9    Seeberger, H.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.