메뉴 건너뛰기




Volumn 7, Issue 5, 2011, Pages

Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility

(57)  Zhao, Jian a   Wu, Hui a   Khosravi, Melanie a   Cui, Huijuan b   Qian, Xiaoxia b   Kelly, Jennifer A c   Kaufman, Kenneth M c,d   Langefeld, Carl D e   Williams, Adrienne H e   Comeau, Mary E e   Ziegler, Julie T e   Marion, Miranda C e   Adler, Adam c   Glenn, Stuart B c   Alarcón Riquelme, Marta E c,f   BIOLUPUS Network, a   GENLES Network, a   Pons Estel, Bernardo A g   Harley, John B h,i   Bae, Sang Cheol j   more..


Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H; COMPLEMENT REGULATOR FACTOR H RELATED PROTEIN 1; COMPLEMENT REGULATOR FACTOR H RELATED PROTEIN 2; COMPLEMENT REGULATOR FACTOR H RELATED PROTEIN 3; COMPLEMENT REGULATOR FACTOR H RELATED PROTEIN 4; COMPLEMENT REGULATOR FACTOR H RELATED PROTEIN 5; PLASMA PROTEIN; UNCLASSIFIED DRUG; BLADDER TUMOR ASSOCIATED ANTIGEN; BLADDER TUMOR-ASSOCIATED ANTIGEN; TUMOR ANTIGEN; TUMOR MARKER;

EID: 79957991917     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002079     Document Type: Article
Times cited : (181)

References (39)
  • 1
    • 40049093765 scopus 로고    scopus 로고
    • Systemic lupus erythematosus
    • Rahman A, Isenberg DA, (2008) Systemic lupus erythematosus. N Engl J Med 358: 929-939.
    • (2008) N Engl J Med , vol.358 , pp. 929-939
    • Rahman, A.1    Isenberg, D.A.2
  • 2
    • 2542505506 scopus 로고    scopus 로고
    • The role of complement in the development of systemic lupus erythematosus
    • Manderson AP, Botto M, Walport MJ, (2004) The role of complement in the development of systemic lupus erythematosus. Annu Rev Immunol 22: 431-456.
    • (2004) Annu Rev Immunol , vol.22 , pp. 431-456
    • Manderson, A.P.1    Botto, M.2    Walport, M.J.3
  • 3
    • 78649745342 scopus 로고    scopus 로고
    • The complex nature of serum C3 and C4 as biomarkers of lupus renal flare
    • Birmingham DJ, Irshaid F, Nagaraja HN, Zou X, Tsao BP, et al. (2010) The complex nature of serum C3 and C4 as biomarkers of lupus renal flare. Lupus 19: 1272-1280.
    • (2010) Lupus , vol.19 , pp. 1272-1280
    • Birmingham, D.J.1    Irshaid, F.2    Nagaraja, H.N.3    Zou, X.4    Tsao, B.P.5
  • 4
    • 38649122402 scopus 로고    scopus 로고
    • Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus
    • Miyagawa H, Yamai M, Sakaguchi D, Kiyohara C, Tsukamoto H, et al. (2008) Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus. Rheumatology (Oxford) 47: 158-164.
    • (2008) Rheumatology (Oxford) , vol.47 , pp. 158-164
    • Miyagawa, H.1    Yamai, M.2    Sakaguchi, D.3    Kiyohara, C.4    Tsukamoto, H.5
  • 5
    • 67849092287 scopus 로고    scopus 로고
    • The heritability and genetics of complement C3 expression in UK SLE families
    • Rhodes B, Hunnangkul S, Morris DL, Hsaio LC, Graham DS, et al. (2009) The heritability and genetics of complement C3 expression in UK SLE families. Genes Immun 10: 525-530.
    • (2009) Genes Immun , vol.10 , pp. 525-530
    • Rhodes, B.1    Hunnangkul, S.2    Morris, D.L.3    Hsaio, L.C.4    Graham, D.S.5
  • 6
    • 34250841166 scopus 로고    scopus 로고
    • Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans
    • Yang Y, Chung EK, Wu YL, Savelli SL, Nagaraja HN, et al. (2007) Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. Am J Hum Genet 80: 1037-1054.
    • (2007) Am J Hum Genet , vol.80 , pp. 1037-1054
    • Yang, Y.1    Chung, E.K.2    Wu, Y.L.3    Savelli, S.L.4    Nagaraja, H.N.5
  • 7
    • 36849084660 scopus 로고    scopus 로고
    • Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H
    • de Cordoba SR, de Jorge EG, (2008) Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H. Clin Exp Immunol 151: 1-13.
    • (2008) Clin Exp Immunol , vol.151 , pp. 1-13
    • de Cordoba, S.R.1    de Jorge, E.G.2
  • 9
    • 47749126514 scopus 로고    scopus 로고
    • Factor H family proteins and human diseases
    • Jozsi M, Zipfel PF, (2008) Factor H family proteins and human diseases. Trends Immunol 29: 380-387.
    • (2008) Trends Immunol , vol.29 , pp. 380-387
    • Jozsi, M.1    Zipfel, P.F.2
  • 10
    • 70349441306 scopus 로고    scopus 로고
    • Factor H-related protein 1 (CFHR-1) inhibits complement C5 convertase activity and terminal complex formation
    • Heinen S, Hartmann A, Lauer N, Wiehl U, Dahse HM, et al. (2009) Factor H-related protein 1 (CFHR-1) inhibits complement C5 convertase activity and terminal complex formation. Blood 114: 2439-2447.
    • (2009) Blood , vol.114 , pp. 2439-2447
    • Heinen, S.1    Hartmann, A.2    Lauer, N.3    Wiehl, U.4    Dahse, H.M.5
  • 11
    • 79551664780 scopus 로고    scopus 로고
    • Complement factor H deficiency accelerates development of lupus nephritis
    • Bao L, Haas M, Quigg RJ, (2011) Complement factor H deficiency accelerates development of lupus nephritis. J Am Soc Nephrol 22: 285-295.
    • (2011) J Am Soc Nephrol , vol.22 , pp. 285-295
    • Bao, L.1    Haas, M.2    Quigg, R.J.3
  • 13
    • 34247239760 scopus 로고    scopus 로고
    • Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus
    • Wu H, Boackle SA, Hanvivadhanakul P, Ulgiati D, Grossman JM, et al. (2007) Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus. Proc Natl Acad Sci U S A 104: 3961-3966.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , pp. 3961-3966
    • Wu, H.1    Boackle, S.A.2    Hanvivadhanakul, P.3    Ulgiati, D.4    Grossman, J.M.5
  • 14
    • 21044453724 scopus 로고    scopus 로고
    • A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration
    • Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, et al. (2005) A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A 102: 7227-7232.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 7227-7232
    • Hageman, G.S.1    Anderson, D.H.2    Johnson, L.V.3    Hancox, L.S.4    Taiber, A.J.5
  • 15
    • 20244380171 scopus 로고    scopus 로고
    • Complement factor H polymorphism in age-related macular degeneration
    • Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, et al. (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308: 385-389.
    • (2005) Science , vol.308 , pp. 385-389
    • Klein, R.J.1    Zeiss, C.2    Chew, E.Y.3    Tsai, J.Y.4    Sackler, R.S.5
  • 16
    • 34250329129 scopus 로고    scopus 로고
    • Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains
    • Pickering MC, de Jorge EG, Martinez-Barricarte R, Recalde S, Garcia-Layana A, et al. (2007) Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains. J Exp Med 204: 1249-1256.
    • (2007) J Exp Med , vol.204 , pp. 1249-1256
    • Pickering, M.C.1    de Jorge, E.G.2    Martinez-Barricarte, R.3    Recalde, S.4    Garcia-Layana, A.5
  • 17
    • 33745716919 scopus 로고    scopus 로고
    • 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)
    • Abrera-Abeleda MA, Nishimura C, Smith JL, Sethi S, McRae JL, et al. (2006) 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). J Med Genet 43: 582-589.
    • (2006) J Med Genet , vol.43 , pp. 582-589
    • Abrera-Abeleda, M.A.1    Nishimura, C.2    Smith, J.L.3    Sethi, S.4    McRae, J.L.5
  • 18
    • 77956642099 scopus 로고    scopus 로고
    • Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease
    • Davila S, Wright VJ, Khor CC, Sim KS, Binder A, et al. (2010) Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. Nat Genet 42: 772-776.
    • (2010) Nat Genet , vol.42 , pp. 772-776
    • Davila, S.1    Wright, V.J.2    Khor, C.C.3    Sim, K.S.4    Binder, A.5
  • 19
    • 34047200899 scopus 로고    scopus 로고
    • Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome
    • doi:10.1371/journal.pgen.0030041
    • Zipfel PF, Edey M, Heinen S, Jozsi M, Richter H, et al. (2007) Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. PLoS Genet 3: e41 doi:10.1371/journal.pgen.0030041.
    • (2007) PLoS Genet , vol.3
    • Zipfel, P.F.1    Edey, M.2    Heinen, S.3    Jozsi, M.4    Richter, H.5
  • 20
    • 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 AE, Orr N, Esfandiary H, Diaz-Torres M, Goodship T, et al. (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
  • 21
    • 78649830454 scopus 로고    scopus 로고
    • Genetic susceptibility to systemic lupus erythematosus in the genomic era
    • Deng Y, Tsao BP, (2010) Genetic susceptibility to systemic lupus erythematosus in the genomic era. Nat Rev Rheumatol 6: 683-692.
    • (2010) Nat Rev Rheumatol , vol.6 , pp. 683-692
    • Deng, Y.1    Tsao, B.P.2
  • 22
    • 33747700932 scopus 로고    scopus 로고
    • His-384 allotypic variant of factor H associated with age-related macular degeneration has different heparin binding properties from the non-disease-associated form
    • Clark SJ, Higman VA, Mulloy B, Perkins SJ, Lea SM, et al. (2006) His-384 allotypic variant of factor H associated with age-related macular degeneration has different heparin binding properties from the non-disease-associated form. J Biol Chem 281: 24713-24720.
    • (2006) J Biol Chem , vol.281 , pp. 24713-24720
    • Clark, S.J.1    Higman, V.A.2    Mulloy, B.3    Perkins, S.J.4    Lea, S.M.5
  • 23
    • 34948910047 scopus 로고    scopus 로고
    • Structural basis for complement factor H linked age-related macular degeneration
    • Prosser BE, Johnson S, Roversi P, Herbert AP, Blaum BS, et al. (2007) Structural basis for complement factor H linked age-related macular degeneration. J Exp Med 204: 2277-2283.
    • (2007) J Exp Med , vol.204 , pp. 2277-2283
    • Prosser, B.E.1    Johnson, S.2    Roversi, P.3    Herbert, A.P.4    Blaum, B.S.5
  • 24
    • 34247573496 scopus 로고    scopus 로고
    • Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration
    • Skerka C, Lauer N, Weinberger AA, Keilhauer CN, Suhnel J, et al. (2007) Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration. Mol Immunol 44: 3398-3406.
    • (2007) Mol Immunol , vol.44 , pp. 3398-3406
    • Skerka, C.1    Lauer, N.2    Weinberger, A.A.3    Keilhauer, C.N.4    Suhnel, J.5
  • 25
    • 69449090499 scopus 로고    scopus 로고
    • The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity
    • Tortajada A, Montes T, Martinez-Barricarte R, Morgan BP, Harris CL, et al. (2009) The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity. Hum Mol Genet 18: 3452-3461.
    • (2009) Hum Mol Genet , vol.18 , pp. 3452-3461
    • Tortajada, A.1    Montes, T.2    Martinez-Barricarte, R.3    Morgan, B.P.4    Harris, C.L.5
  • 26
    • 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 KE, Khanna R, 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
  • 27
    • 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, et al. (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
  • 28
  • 29
    • 0036699540 scopus 로고    scopus 로고
    • Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H
    • Pickering MC, Cook HT, Warren J, Bygrave AE, Moss J, et al. (2002) Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H. Nat Genet 31: 424-428.
    • (2002) Nat Genet , vol.31 , pp. 424-428
    • Pickering, M.C.1    Cook, H.T.2    Warren, J.3    Bygrave, A.E.4    Moss, J.5
  • 30
    • 23944468114 scopus 로고    scopus 로고
    • Membranoproliferative glomerulonephritis type II (dense deposit disease): an update
    • Appel GB, Cook HT, Hageman G, Jennette JC, Kashgarian M, et al. (2005) Membranoproliferative glomerulonephritis type II (dense deposit disease): an update. J Am Soc Nephrol 16: 1392-1403.
    • (2005) J Am Soc Nephrol , vol.16 , pp. 1392-1403
    • Appel, G.B.1    Cook, H.T.2    Hageman, G.3    Jennette, J.C.4    Kashgarian, M.5
  • 31
    • 78149270873 scopus 로고    scopus 로고
    • An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)
    • Fritsche LG, Lauer N, Hartmann A, Stippa S, Keilhauer CN, et al. (2010) An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). Hum Mol Genet 19: 4694-4704.
    • (2010) Hum Mol Genet , vol.19 , pp. 4694-4704
    • Fritsche, L.G.1    Lauer, N.2    Hartmann, A.3    Stippa, S.4    Keilhauer, C.N.5
  • 32
    • 0030691102 scopus 로고    scopus 로고
    • Tissue injury in neutrophilic inflammation
    • Dallegri F, Ottonello L, (1997) Tissue injury in neutrophilic inflammation. Inflamm Res 46: 382-391.
    • (1997) Inflamm Res , vol.46 , pp. 382-391
    • Dallegri, F.1    Ottonello, L.2
  • 33
    • 23844457665 scopus 로고    scopus 로고
    • C5a promotes development of experimental lupus nephritis which can be blocked with a specific receptor antagonist
    • Bao L, Osawe I, Puri T, Lambris JD, Haas M, et al. (2005) C5a promotes development of experimental lupus nephritis which can be blocked with a specific receptor antagonist. Eur J Immunol 35: 2496-2506.
    • (2005) Eur J Immunol , vol.35 , pp. 2496-2506
    • Bao, L.1    Osawe, I.2    Puri, T.3    Lambris, J.D.4    Haas, M.5
  • 34
    • 0035879318 scopus 로고    scopus 로고
    • Distinct tissue site-specific requirements of mast cells and complement components C3/C5a receptor in IgG immune complex-induced injury of skin and lung
    • Baumann U, Chouchakova N, Gewecke B, Kohl J, Carroll MC, et al. (2001) Distinct tissue site-specific requirements of mast cells and complement components C3/C5a receptor in IgG immune complex-induced injury of skin and lung. J Immunol 167: 1022-1027.
    • (2001) J Immunol , vol.167 , pp. 1022-1027
    • Baumann, U.1    Chouchakova, N.2    Gewecke, B.3    Kohl, J.4    Carroll, M.C.5
  • 35
    • 0032898385 scopus 로고    scopus 로고
    • Increased apoptotic peripheral blood neutrophils in systemic lupus erythematosus: relations with disease activity, antibodies to double stranded DNA, and neutropenia
    • Courtney PA, Crockard AD, Williamson K, Irvine AE, Kennedy RJ, et al. (1999) Increased apoptotic peripheral blood neutrophils in systemic lupus erythematosus: relations with disease activity, antibodies to double stranded DNA, and neutropenia. Ann Rheum Dis 58: 309-314.
    • (1999) Ann Rheum Dis , vol.58 , pp. 309-314
    • Courtney, P.A.1    Crockard, A.D.2    Williamson, K.3    Irvine, A.E.4    Kennedy, R.J.5
  • 36
    • 20544437666 scopus 로고    scopus 로고
    • Anti-Factor H autoantibodies associated with atypical hemolytic uremic syndrome
    • Dragon-Durey MA, Loirat C, Cloarec S, Macher MA, Blouin J, et al. (2005) Anti-Factor H autoantibodies associated with atypical hemolytic uremic syndrome. J Am Soc Nephrol 16: 555-563.
    • (2005) J Am Soc Nephrol , vol.16 , pp. 555-563
    • Dragon-Durey, M.A.1    Loirat, C.2    Cloarec, S.3    Macher, M.A.4    Blouin, J.5
  • 37
    • 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 HM, Liu WS, Hoyer PF, et al. (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
  • 38
    • 0031229830 scopus 로고    scopus 로고
    • Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus
    • Hochberg MC, (1997) Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 40: 1725.
    • (1997) Arthritis Rheum , vol.40 , pp. 1725
    • Hochberg, M.C.1
  • 39
    • 78650862201 scopus 로고    scopus 로고
    • Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study
    • Lessard CJ, Adrianto I, Kelly JA, Kaufman KM, Grundahl KM, et al. (2011) Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study. Am J Hum Genet 88: 83-91.
    • (2011) Am J Hum Genet , vol.88 , pp. 83-91
    • Lessard, C.J.1    Adrianto, I.2    Kelly, J.A.3    Kaufman, K.M.4    Grundahl, K.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.