Recent insights into the genetic basis of systemic lupus erythematosus (original) (raw)
Deapen D, Escalante A, Weinrib L, Horwitz D, Bachman B, Roy-Burman P et al. A revised estimate of twin concordance in systemic lupus erythematosus. Arthritis Rheum 1992; 35: 311–318. ArticleCASPubMed Google Scholar
Alarcon-Segovia D, Alarcon-Riquelme ME, Cardiel MH, Caeiro F, Massardo L, Villa AR et al. Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort. Arthritis Rheum 2005; 52: 1138–1147. ArticlePubMed Google Scholar
Hochberg MC . The application of genetic epidemiology to systemic lupus erythematosus. J Rheumatol 1987; 14: 867–869. CASPubMed Google Scholar
Lawrence JS, Martins CL, Drake GL . A family survey of lupus erythematosus. 1. Heritability. J Rheumatol 1987; 14: 913–921. CASPubMed Google Scholar
Sestak AL, Shaver TS, Moser KL, Neas BR, Harley JB . Familial aggregation of lupus and autoimmunity in an unusual multiplex pedigree. J Rheumatol 1999; 26: 1495–1499. CASPubMed Google Scholar
Graham RR, Kyogoku C, Sigurdsson S, Vlasova IA, Davies LR, Baechler EC et al. Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci USA 2007; 104: 6758–6763. ArticleCASPubMedPubMed Central Google Scholar
Fernando MM, Stevens CR, Sabeti PC, Walsh EC, McWhinnie AJ, Shah A et al. Identification of two independent risk factors for lupus within the MHC in United Kingdom families. PLoS Genet 2007; 3: e192. ArticlePubMedPubMed Central Google Scholar
Jacob CO, Reiff A, Armstrong DL, Myones BL, Silverman E, Klein-Gitelman M et al. Identification of novel susceptibility genes in childhood-onset systemic lupus erythematosus using a uniquely designed candidate gene pathway platform. Arthritis Rheum 2007; 56: 4164–4173. ArticleCASPubMed Google Scholar
Harley JB, Alarcon-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, Moser KL et al. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 2008; 40: 204–210. ArticleCASPubMedPubMed Central Google Scholar
Hom G, Graham RR, Modrek B, Taylor KE, Ortmann W, Garnier S et al. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med 2008; 358: 900–909. ArticleCASPubMed Google Scholar
Nath SK, Han S, Kim-Howard X, Kelly JA, Viswanathan P, Gilkeson GS et al. A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus. Nat Genet 2008; 40: 152–154. ArticleCASPubMed Google Scholar
Kozyrev SV, Abelson AK, Wojcik J, Zaghlool A, Linga Reddy MV, Sanchez E et al. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet 2008; 40: 211–216. ArticleCASPubMed Google Scholar
Sawalha AH, Webb R, Han S, Kelly JA, Kaufman KM, Kimberly RP et al. Common variants within MECP2 confer risk of systemic lupus erythematosus. PLoS ONE 2008; 3: e1727. ArticlePubMedPubMed Central Google Scholar
Graham DS, Graham RR, Manku H, Wong AK, Whittaker JC, Gaffney PM et al. Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. Nat Genet 2008; 40: 83–89. ArticlePubMed Google Scholar
Graham RR, Cotsapas C, Davies L, Hackett R, Lessard CJ, Leon JM et al. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet 2008; 40: 1059–1061. ArticleCASPubMedPubMed Central Google Scholar
Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet 2008; 40: 955–962. ArticleCASPubMedPubMed Central Google Scholar
Baechler EC, Gregersen PK, Behrens TW . The emerging role of interferon in human systemic lupus erythematosus. Curr Opin Immunol 2004; 16: 801–807. ArticleCASPubMed Google Scholar
Crow MK, Kirou KA . Interferon-alpha in systemic lupus erythematosus. Curr Opin Rheumatol 2004; 16: 541–547. ArticleCASPubMed Google Scholar
Cunninghame Graham DS, Manku H, Wagner S, Reid J, Timms K, Gutin A et al. Association of IRF5 in UK SLE families identifies a variant involved in polyadenylation. Hum Mol Genet 2007; 16: 579–591. ArticleCASPubMed Google Scholar
Kozyrev SV, Lewen S, Reddy PM, Pons-Estel B, Witte T, Junker P et al. Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus. Arthritis Rheum 2007; 56: 1234–1241. ArticleCASPubMed Google Scholar
Kelly JA, Kelley JM, Kaufman KM, Kilpatrick J, Bruner GR, Merrill JT et al. Interferon regulatory factor-5 is genetically associated with systemic lupus erythematosus in African Americans. Genes Immun 2008; 9: 187–194. ArticleCASPubMed Google Scholar
Jacob CO, Zhu J, Armstrong DL, Yan M, Han J, Zhou XJ et al. Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus. Proc Natl Acad Sci USA 2009; 106: 6256–6261. ArticleCASPubMedPubMed Central Google Scholar
Remmers EF, Plenge RM, Lee AT, Graham RR, Hom G, Behrens TW et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 2007; 357: 977–986. ArticleCASPubMedPubMed Central Google Scholar
Taylor KE, Remmers EF, Lee AT, Ortmann WA, Plenge RM, Tian C et al. Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus. PLoS Genet 2008; 4: e1000084. ArticlePubMedPubMed Central Google Scholar
Levy DE, Darnell Jr JE . Stats: transcriptional control and biological impact. Nat Rev Mol Cell Biol 2002; 3: 651–662. ArticleCASPubMed Google Scholar
Kariuki SN, Kirou KA, MacDermott EJ, Barillas-Arias L, Crow MK, Niewold TB . Cutting edge: autoimmune disease risk variant of STAT4 confers increased sensitivity to IFN-alpha in lupus patients in vivo. J Immunol 2009; 182: 34–38. ArticleCASPubMed Google Scholar
Abelson AK, Delgado-Vega AM, Kozyrev SV, Sanchez E, Velazquez-Cruz R, Eriksson N et al. STAT4 associates with SLE through two independent effects that correlate with gene expression and act additively with IRF5 to increase risk. Ann Rheum Dis 2008 (e-pub ahead of print).
Namjou B, Sestak AL, Armstrong DL, Zidovetzki R, Kelly JA, Jacob N et al. High-density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groups. Arthritis Rheum 2009; 60: 1085–1095. ArticleCASPubMedPubMed Central Google Scholar
Elder JT . Genome-wide association scan yields new insights into the immunopathogenesis of psoriasis. Genes Immun 2009.
Han S, Guthridge JM, Harley IT, Sestak AL, Kim-Howard X, Kaufman KM et al. Osteopontin and systemic lupus erythematosus association: a probable gene–gender interaction. PLoS ONE 2008; 3: e0001757. ArticlePubMed Google Scholar
Kariuki SN, Moore JG, Kirou KA, Crow MK, Utset TO, Niewold TB . Age- and gender-specific modulation of serum osteopontin and interferon-alpha by osteopontin genotype in systemic lupus erythematosus. Genes Immun 2009.
Sekine H, Ferreira RC, Pan-Hammarstrom Q, Graham RR, Ziemba B, de Vries SS et al. Role for Msh5 in the regulation of Ig class switch recombination. Proc Natl Acad Sci USA 2007; 104: 7193–7198. ArticleCASPubMedPubMed Central Google Scholar
Orru V, Tsai SJ, Rueda B, Fiorillo E, Stanford SM, Dasgupta J et al. A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. Hum Mol Genet 2009; 18: 569–579. ArticleCASPubMed Google Scholar
Stuber E, Strober W . The T cell-B cell interaction via OX40-OX40L is necessary for the T cell-dependent humoral immune response. J Exp Med 1996; 183: 979–989. ArticleCASPubMed Google Scholar
Prokunina L, Castillejo-Lopez C, Oberg F, Gunnarsson I, Berg L, Magnusson V et al. A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet 2002; 32: 666–669. ArticleCASPubMed Google Scholar
Lee YH, Woo JH, Choi SJ, Ji JD, Song GG . Association of programmed cell death 1 polymorphisms and systemic lupus erythematosus: a meta-analysis. Lupus 2009; 18: 9–15. ArticleCASPubMed Google Scholar
Gorlov IP, Gorlova OY, Sunyaev SR, Spitz MR, Amos CI . Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am J Hum Genet 2008; 82: 100–112. ArticleCASPubMedPubMed Central Google Scholar
Walport MJ . The Roche Rheumatology Prize Lecture. Complement deficiency and disease. Br J Rheumatol 1993; 32: 269–273. ArticleCASPubMed Google Scholar
Sullivan KE, Petri MA, Schmeckpeper BJ, McLean RH, Winkelstein JA . Prevalence of a mutation causing C2 deficiency in systemic lupus erythematosus. J Rheumatol 1994; 21: 1128–1133. CASPubMed Google Scholar
Fielder AH, Walport MJ, Batchelor JR, Rynes RI, Black CM, Dodi IA et al. Family study of the major histocompatibility complex in patients with systemic lupus erythematosus: importance of null alleles of C4A and C4B in determining disease susceptibility. Br Med J (Clin Res Ed) 1983; 286: 425–428. ArticleCAS Google Scholar
Reveille JD, Arnett FC, Wilson RW, Bias WB, McLean RH . Null alleles of the fourth component of complement and HLA haplotypes in familial systemic lupus erythematosus. Immunogenetics 1985; 21: 299–311. ArticleCASPubMed Google Scholar
Edberg JC, Langefeld CD, Wu J, Moser KL, Kaufman KM, Kelly J et al. Genetic linkage and association of Fcgamma receptor IIIA (CD16A) on chromosome 1q23 with human systemic lupus erythematosus. Arthritis Rheum 2002; 46: 2132–2140. ArticleCASPubMed Google Scholar
Salmon JE, Millard S, Schachter LA, Arnett FC, Ginzler EM, Gourley MF et al. Fc gamma RIIA alleles are heritable risk factors for lupus nephritis in African Americans. J Clin Invest 1996; 97: 1348–1354. CASPubMedPubMed Central Google Scholar
van der Pol W, van de Winkel JG . IgG receptor polymorphisms: risk factors for disease. Immunogenetics 1998; 48: 222–232. ArticleCASPubMed Google Scholar
Marnell L, Mold C, Du Clos TW . C-reactive protein: ligands, receptors and role in inflammation. Clin Immunol 2005; 117: 104–111. ArticleCASPubMed Google Scholar
Edberg JC, Wu J, Langefeld CD, Brown EE, Marion MC, McGwin Jr G et al. Genetic variation in the CRP promoter: association with systemic lupus erythematosus. Hum Mol Genet 2008; 17: 1147–1155. ArticleCASPubMed Google Scholar
Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, Kamesh L et al. FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat Genet 2007; 39: 721–723. ArticleCASPubMedPubMed Central Google Scholar
Han S, Kim-Howard X, Deshmukh H, Kamatani Y, Viswanathan P, Guthridge JM et al. Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE). Hum Mol Genet 2009; 18: 1171–1180. ArticleCASPubMedPubMed Central Google Scholar
Scofield RH, Bruner GR, Namjou B, Kimberly RP, Ramsey-Goldman R, Petri M et al. Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus patients: support for the notion of a gene–dose effect from the X chromosome. Arthritis Rheum 2008; 58: 2511–2517. ArticlePubMedPubMed Central Google Scholar
Webb R, Wren JD, Jeffries M, Kelly JA, Kaufman KM, Tang Y et al. Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus. Arthritis Rheum 2009; 60: 1076–1084. ArticleCASPubMedPubMed Central Google Scholar