Skip to main content
Top
Published in: Arthritis Research & Therapy 3/2007

01-06-2007 | Review

Current status of lupus genetics

Authors: Andrea L Sestak, Swapan K Nath, Amr H Sawalha, John B Harley

Published in: Arthritis Research & Therapy | Issue 3/2007

Login to get access

Abstract

Over the past 40 years more than 100 genetic risk factors have been defined in systemic lupus erythematosus through a combination of case studies, linkage analyses of multiplex families, and case-control analyses of single genes. Multiple investigators have examined patient cohorts gathered from around the world, and although we doubt that all of the reported associations will be replicated, we have probably already discovered many of the genes that are important in lupus pathogenesis, including those encoding human leukocyte antigen-DR, Fcγ receptor 3A, protein tyrosine phosphatase nonreceptor 22, cytotoxic T lymphocyte associated antigen 4, and mannose-binding lectin. In this review we will present what is known, what is disputed, and what remains to be discovered in the world of lupus genetics.
Literature
1.
go back to reference James JA, Harley JB, Scofield RH: Epstein-Barr virus and systemic lupus erythematosus. Curr Opin Rheumatol. 2006, 18: 462-467. 10.1097/01.bor.0000240355.37927.94.PubMed James JA, Harley JB, Scofield RH: Epstein-Barr virus and systemic lupus erythematosus. Curr Opin Rheumatol. 2006, 18: 462-467. 10.1097/01.bor.0000240355.37927.94.PubMed
2.
go back to reference 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.PubMed 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.PubMed
3.
go back to reference Reichlin M, Harley JB, Lockshin MD: Serologic studies of monozygotic twins with systemic lupus erythematosus. Arthritis Rheum. 1992, 35: 457-464. 10.1002/art.1780350416.PubMed Reichlin M, Harley JB, Lockshin MD: Serologic studies of monozygotic twins with systemic lupus erythematosus. Arthritis Rheum. 1992, 35: 457-464. 10.1002/art.1780350416.PubMed
4.
go back to reference Kelly JA, Moser KL, Harley JB: The genetics of systemic lupus erythematosus: putting the pieces together. Genes Immun. 2002, 3 (Suppl 1): S71-S85. 10.1038/sj.gene.6363885.PubMed Kelly JA, Moser KL, Harley JB: The genetics of systemic lupus erythematosus: putting the pieces together. Genes Immun. 2002, 3 (Suppl 1): S71-S85. 10.1038/sj.gene.6363885.PubMed
5.
go back to reference Risch N: Genetic linkage and complex diseases, with special reference to psychiatric disorders. Genet Epidemiol. 1990, 7: 3-16. 10.1002/gepi.1370070103.PubMed Risch N: Genetic linkage and complex diseases, with special reference to psychiatric disorders. Genet Epidemiol. 1990, 7: 3-16. 10.1002/gepi.1370070103.PubMed
6.
go back to reference Moser KL, Neas BR, Salmon JE, Yu H, Gray-McGuire C, Asundi N, Bruner GR, Fox J, Kelly J, Henshall S, et al: Genome scan of human systemic lupus erythematosus: evidence for linkage on chromosome 1q in African-American pedigrees. Proc Natl Acad Sci USA. 1998, 95: 14869-14874. 10.1073/pnas.95.25.14869.PubMedCentralPubMed Moser KL, Neas BR, Salmon JE, Yu H, Gray-McGuire C, Asundi N, Bruner GR, Fox J, Kelly J, Henshall S, et al: Genome scan of human systemic lupus erythematosus: evidence for linkage on chromosome 1q in African-American pedigrees. Proc Natl Acad Sci USA. 1998, 95: 14869-14874. 10.1073/pnas.95.25.14869.PubMedCentralPubMed
7.
go back to reference Edberg JC, Langefeld CD, Wu J, Moser KL, Kaufman KM, Kelly J, Bansal V, Brown WM, Salmon JE, Rich SS, 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. 10.1002/art.10438.PubMed Edberg JC, Langefeld CD, Wu J, Moser KL, Kaufman KM, Kelly J, Bansal V, Brown WM, Salmon JE, Rich SS, 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. 10.1002/art.10438.PubMed
8.
go back to reference Salmon JE, Millard S, Schachter LA, Arnett FC, Ginzler EM, Gourley MF, Ramsey-Goldman R, Peterson MG, Kimberly RP: Fc gamma RIIA alleles are heritable risk factors for lupus nephritis in African Americans. J Clin Invest. 1996, 97: 1348-1354.PubMedCentralPubMed Salmon JE, Millard S, Schachter LA, Arnett FC, Ginzler EM, Gourley MF, Ramsey-Goldman R, Peterson MG, Kimberly RP: Fc gamma RIIA alleles are heritable risk factors for lupus nephritis in African Americans. J Clin Invest. 1996, 97: 1348-1354.PubMedCentralPubMed
9.
go back to reference Karassa FB, Trikalinos TA, Ioannidis JP: Role of the Fcgamma receptor IIa polymorphism in susceptibility to systemic lupus erythematosus and lupus nephritis: a meta-analysis. Arthritis Rheum. 2002, 46: 1563-1571. 10.1002/art.10306.PubMed Karassa FB, Trikalinos TA, Ioannidis JP: Role of the Fcgamma receptor IIa polymorphism in susceptibility to systemic lupus erythematosus and lupus nephritis: a meta-analysis. Arthritis Rheum. 2002, 46: 1563-1571. 10.1002/art.10306.PubMed
10.
go back to reference Karassa FB, Trikalinos TA, Ioannidis JP: The Fc gamma RIIIA-F158 allele is a risk factor for the development of lupus nephritis: a meta-analysis. Kidney Int. 2003, 63: 1475-1482. 10.1046/j.1523-1755.2003.00873.x.PubMed Karassa FB, Trikalinos TA, Ioannidis JP: The Fc gamma RIIIA-F158 allele is a risk factor for the development of lupus nephritis: a meta-analysis. Kidney Int. 2003, 63: 1475-1482. 10.1046/j.1523-1755.2003.00873.x.PubMed
11.
go back to reference Kimberly RP, Salmon JE, Edberg JC: Receptors for immunoglobulin G. Molecular diversity and implications for disease. Arthritis Rheum. 1995, 38: 306-314. 10.1002/art.1780380303.PubMed Kimberly RP, Salmon JE, Edberg JC: Receptors for immunoglobulin G. Molecular diversity and implications for disease. Arthritis Rheum. 1995, 38: 306-314. 10.1002/art.1780380303.PubMed
12.
go back to reference Karassa FB, Trikalinos TA, Ioannidis JP: The role of Fcgam-maRIIA and IIIA polymorphisms in autoimmune diseases. Biomed Pharmacother. 2004, 58: 286-291. 10.1016/j.biopha.2004.04.004.PubMed Karassa FB, Trikalinos TA, Ioannidis JP: The role of Fcgam-maRIIA and IIIA polymorphisms in autoimmune diseases. Biomed Pharmacother. 2004, 58: 286-291. 10.1016/j.biopha.2004.04.004.PubMed
13.
go back to reference Prokunina L, Castillejo-Lopez C, Oberg F, Gunnarsson I, Berg L, Magnusson V, Brookes AJ, Tentler D, Kristjansdottir H, Grondal G, et al: A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet. 2002, 32: 666-669. 10.1038/ng1020.PubMed Prokunina L, Castillejo-Lopez C, Oberg F, Gunnarsson I, Berg L, Magnusson V, Brookes AJ, Tentler D, Kristjansdottir H, Grondal G, et al: A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet. 2002, 32: 666-669. 10.1038/ng1020.PubMed
14.
go back to reference Johansson M, Arlestig L, Moller B, Rantapaa-Dahlqvist S: Association of a PDCD1 polymorphism with renal manifestations in systemic lupus erythematosus. Arthritis Rheum. 2005, 52: 1665-1669. 10.1002/art.21058.PubMed Johansson M, Arlestig L, Moller B, Rantapaa-Dahlqvist S: Association of a PDCD1 polymorphism with renal manifestations in systemic lupus erythematosus. Arthritis Rheum. 2005, 52: 1665-1669. 10.1002/art.21058.PubMed
15.
go back to reference Lin SC, Yen JH, Tsai JJ, Tsai WC, Ou TT, Liu HW, Chen CJ: Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus. Arthritis Rheum. 2004, 50: 770-775. 10.1002/art.20040.PubMed Lin SC, Yen JH, Tsai JJ, Tsai WC, Ou TT, Liu HW, Chen CJ: Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus. Arthritis Rheum. 2004, 50: 770-775. 10.1002/art.20040.PubMed
16.
go back to reference Graham RR, Ortmann WA, Langefeld CD, Jawaheer D, Selby SA, Rodine PR, Baechler EC, Rohlf KE, Shark KB, Espe KJ, et al: Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus. Am J Hum Genet. 2002, 71: 543-553. 10.1086/342290.PubMedCentralPubMed Graham RR, Ortmann WA, Langefeld CD, Jawaheer D, Selby SA, Rodine PR, Baechler EC, Rohlf KE, Shark KB, Espe KJ, et al: Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus. Am J Hum Genet. 2002, 71: 543-553. 10.1086/342290.PubMedCentralPubMed
17.
go back to reference Tsao BP, Cantor RM, Grossman JM, Shen N, Teophilov NT, Wallace DJ, Arnett FC, Hartung K, Goldstein R, Kalunian KC, et al: PARP alleles within the linked chromosomal region are associated with systemic lupus erythematosus. J Clin Invest. 1999, 103: 1135-1140.PubMedCentralPubMed Tsao BP, Cantor RM, Grossman JM, Shen N, Teophilov NT, Wallace DJ, Arnett FC, Hartung K, Goldstein R, Kalunian KC, et al: PARP alleles within the linked chromosomal region are associated with systemic lupus erythematosus. J Clin Invest. 1999, 103: 1135-1140.PubMedCentralPubMed
18.
go back to reference Criswell LA, Moser KL, Gaffney PM, Inda S, Ortmann WA, Lin D, Chen JJ, Li H, Gray-McGuire C, Neas BR, et al: PARP alleles and SLE: failure to confirm association with disease susceptibility. J Clin Invest. 2000, 105: 1501-1502.PubMed Criswell LA, Moser KL, Gaffney PM, Inda S, Ortmann WA, Lin D, Chen JJ, Li H, Gray-McGuire C, Neas BR, et al: PARP alleles and SLE: failure to confirm association with disease susceptibility. J Clin Invest. 2000, 105: 1501-1502.PubMed
19.
go back to reference Delrieu O, Michel M, Frances C, Meyer O, Michel C, Wittke F, Crassard I, Bach JF, Tournier-Lasserve E, Piette JC: Poly(ADP-ribose) polymerase alleles in French Caucasians are associated neither with lupus nor with primary antiphospholipid syndrome. GRAID Research Group. Group for Research on Auto-Immune Disorders. Arthritis Rheum. 1999, 42: 2194-2197. 10.1002/1529-0131(199910)42:10<2194::AID-ANR22>3.0.CO;2-U.PubMed Delrieu O, Michel M, Frances C, Meyer O, Michel C, Wittke F, Crassard I, Bach JF, Tournier-Lasserve E, Piette JC: Poly(ADP-ribose) polymerase alleles in French Caucasians are associated neither with lupus nor with primary antiphospholipid syndrome. GRAID Research Group. Group for Research on Auto-Immune Disorders. Arthritis Rheum. 1999, 42: 2194-2197. 10.1002/1529-0131(199910)42:10<2194::AID-ANR22>3.0.CO;2-U.PubMed
20.
go back to reference Chen JY, Wang CM, Lu SC, Chou YH, Luo SF: Association of apoptosis-related microsatellite polymorphisms on chromosome 1q in Taiwanese systemic lupus erythematosus patients. Clin Exp Immunol. 2006, 143: 281-287. 10.1111/j.1365-2249.2005.02984.x.PubMedCentralPubMed Chen JY, Wang CM, Lu SC, Chou YH, Luo SF: Association of apoptosis-related microsatellite polymorphisms on chromosome 1q in Taiwanese systemic lupus erythematosus patients. Clin Exp Immunol. 2006, 143: 281-287. 10.1111/j.1365-2249.2005.02984.x.PubMedCentralPubMed
21.
go back to reference Hur JW, Sung YK, Shin HD, Park BL, Cheong HS, Bae SC: Poly(ADP-ribose) polymerase (PARP) polymorphisms associated with nephritis and arthritis in systemic lupus erythematosus. Rheumatology (Oxford). 2006, 45: 711-717. 10.1093/rheumatology/kei262. Hur JW, Sung YK, Shin HD, Park BL, Cheong HS, Bae SC: Poly(ADP-ribose) polymerase (PARP) polymorphisms associated with nephritis and arthritis in systemic lupus erythematosus. Rheumatology (Oxford). 2006, 45: 711-717. 10.1093/rheumatology/kei262.
22.
go back to reference Nath SK, Kelly JA, Namjou B, Lam T, Bruner GR, Scofield RH, Aston CE, Harley JB: Evidence for a susceptibility gene, SLEV1, on chromosome 17p13 in families with vitiligo-related systemic lupus erythematosus. Am J Hum Genet. 2001, 69: 1401-1406. 10.1086/324470.PubMedCentralPubMed Nath SK, Kelly JA, Namjou B, Lam T, Bruner GR, Scofield RH, Aston CE, Harley JB: Evidence for a susceptibility gene, SLEV1, on chromosome 17p13 in families with vitiligo-related systemic lupus erythematosus. Am J Hum Genet. 2001, 69: 1401-1406. 10.1086/324470.PubMedCentralPubMed
23.
go back to reference Levinson DF, Levinson MD, Segurado R, Lewis CM: Genome scan meta-analysis of schizophrenia and bipolar disorder, part I: methods and power analysis. Am J Hum Genet. 2003, 73: 17-33. 10.1086/376548.PubMedCentralPubMed Levinson DF, Levinson MD, Segurado R, Lewis CM: Genome scan meta-analysis of schizophrenia and bipolar disorder, part I: methods and power analysis. Am J Hum Genet. 2003, 73: 17-33. 10.1086/376548.PubMedCentralPubMed
24.
go back to reference Lee YH, Nath SK: Systemic lupus erythematosus susceptibility loci defined by genome scan meta-analysis. Hum Genet. 2005, 118: 434-443. 10.1007/s00439-005-0073-1.PubMed Lee YH, Nath SK: Systemic lupus erythematosus susceptibility loci defined by genome scan meta-analysis. Hum Genet. 2005, 118: 434-443. 10.1007/s00439-005-0073-1.PubMed
25.
go back to reference Forabosco P, Gorman JD, Cleveland C, Kelly JA, Fisher SA, Ortmann WA, Johansson C, Johanneson B, Moser KL, Gaffney PM, et al: Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus. Genes Immun. 2006, 7: 609-614. 10.1038/sj.gene.6364338.PubMed Forabosco P, Gorman JD, Cleveland C, Kelly JA, Fisher SA, Ortmann WA, Johansson C, Johanneson B, Moser KL, Gaffney PM, et al: Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus. Genes Immun. 2006, 7: 609-614. 10.1038/sj.gene.6364338.PubMed
26.
go back to reference Sestak AL, Nath SK, Harley JB: Genetics of systemic lupus erythematosus: how far have we come?. Rheum Dis Clin North Am. 2005, 31: 223-244. 10.1016/j.rdc.2005.01.005.PubMed Sestak AL, Nath SK, Harley JB: Genetics of systemic lupus erythematosus: how far have we come?. Rheum Dis Clin North Am. 2005, 31: 223-244. 10.1016/j.rdc.2005.01.005.PubMed
27.
go back to reference Sullivan KE, Winkelstein JA: Genetically determined deficiencies of the complement system. Primary Immunodefieciency Diseases: A Molecular and Genetic Approach. Edited by: Ochs HD, Smith C, Puck J. 1999, New York, NY: Oxford University Press, 397-416. Sullivan KE, Winkelstein JA: Genetically determined deficiencies of the complement system. Primary Immunodefieciency Diseases: A Molecular and Genetic Approach. Edited by: Ochs HD, Smith C, Puck J. 1999, New York, NY: Oxford University Press, 397-416.
28.
go back to reference 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.PubMed 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.PubMed
29.
go back to reference Agnello V: Association of systemic lupus erythematosus and SLE-like syndromes with hereditary and acquired complement deficiency states. Arthritis Rheum. 1978, 21 (5 Suppl): S146-S152.PubMed Agnello V: Association of systemic lupus erythematosus and SLE-like syndromes with hereditary and acquired complement deficiency states. Arthritis Rheum. 1978, 21 (5 Suppl): S146-S152.PubMed
30.
go back to reference Johnson CA, Densen P, Hurford RK, Colten HR, Wetsel RA: Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. J Biol Chem. 1992, 267: 9347-9353.PubMed Johnson CA, Densen P, Hurford RK, Colten HR, Wetsel RA: Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. J Biol Chem. 1992, 267: 9347-9353.PubMed
31.
go back to reference Truedsson L, Alper CA, Awdeh ZL, Johansen P, Sjoholm AG, Sturfelt G: Characterization of type I complement C2 deficiency MHC haplotypes. Strong conservation of the complo-type/HLA-B-region and absence of disease association due to linked class II genes. J Immunol. 1993, 151: 5856-5863.PubMed Truedsson L, Alper CA, Awdeh ZL, Johansen P, Sjoholm AG, Sturfelt G: Characterization of type I complement C2 deficiency MHC haplotypes. Strong conservation of the complo-type/HLA-B-region and absence of disease association due to linked class II genes. J Immunol. 1993, 151: 5856-5863.PubMed
32.
go back to reference Yang Y, Chung EK, Zhou B, Lhotta K, Hebert LA, Birmingham DJ, Rovin BH, Yu CY: The intricate role of complement component C4 in human systemic lupus erythematosus. Curr Dir Autoimmun. 2004, 7: 98-132.PubMed Yang Y, Chung EK, Zhou B, Lhotta K, Hebert LA, Birmingham DJ, Rovin BH, Yu CY: The intricate role of complement component C4 in human systemic lupus erythematosus. Curr Dir Autoimmun. 2004, 7: 98-132.PubMed
33.
go back to reference Hauptmann G, Tappeiner G, Schifferli JA: Inherited deficiency of the fourth component of human complement. Immunodefic Rev. 1988, 1: 3-22.PubMed Hauptmann G, Tappeiner G, Schifferli JA: Inherited deficiency of the fourth component of human complement. Immunodefic Rev. 1988, 1: 3-22.PubMed
34.
go back to reference Hartung K, Baur MP, Coldewey R, Fricke M, Kalden JR, Lakomek HJ, Peter HH, Schendel D, Schneider PM, Seuchter SA: Major histocompatibility complex haplotypes and complement C4 alleles in systemic lupus erythematosus. Results of a multi-center study. J Clin Invest. 1992, 90: 1346-1351.PubMedCentralPubMed Hartung K, Baur MP, Coldewey R, Fricke M, Kalden JR, Lakomek HJ, Peter HH, Schendel D, Schneider PM, Seuchter SA: Major histocompatibility complex haplotypes and complement C4 alleles in systemic lupus erythematosus. Results of a multi-center study. J Clin Invest. 1992, 90: 1346-1351.PubMedCentralPubMed
35.
go back to reference Sullivan KE: Genetics of systemic lupus erythematosus. Clinical implications. Rheum Dis Clin North Am. 2000, 26: 229-222. 10.1016/S0889-857X(05)70137-X.PubMed Sullivan KE: Genetics of systemic lupus erythematosus. Clinical implications. Rheum Dis Clin North Am. 2000, 26: 229-222. 10.1016/S0889-857X(05)70137-X.PubMed
36.
go back to reference Prodeus AP, Goerg S, Shen LM, Pozdnyakova OO, Chu L, Alicot EM, Goodnow CC, Carroll MC: A critical role for complement in maintenance of self-tolerance. Immunity. 1998, 9: 721-731. 10.1016/S1074-7613(00)80669-X.PubMed Prodeus AP, Goerg S, Shen LM, Pozdnyakova OO, Chu L, Alicot EM, Goodnow CC, Carroll MC: A critical role for complement in maintenance of self-tolerance. Immunity. 1998, 9: 721-731. 10.1016/S1074-7613(00)80669-X.PubMed
37.
go back to reference Behrens TW, Graham RR, Kyogoku C, Baechler EC, Ramos PS, Gillett C, Bauer J, Ortmann WA, Hippen KL, Peterson E, et al: Progress towards understanding the genetic pathogenesis of systemic lupus erythematosus. Novartis Found Symp. 2005, 267: 145-160.PubMed Behrens TW, Graham RR, Kyogoku C, Baechler EC, Ramos PS, Gillett C, Bauer J, Ortmann WA, Hippen KL, Peterson E, et al: Progress towards understanding the genetic pathogenesis of systemic lupus erythematosus. Novartis Found Symp. 2005, 267: 145-160.PubMed
38.
go back to reference Wilson AG, Gordon C, di Giovine FS, de Vries N, van de Putte LB, Emery P, Duff GW: A genetic association between systemic lupus erythematosus and tumor necrosis factor alpha. Eur J Immunol. 1994, 24: 191-195. 10.1002/eji.1830240130.PubMed Wilson AG, Gordon C, di Giovine FS, de Vries N, van de Putte LB, Emery P, Duff GW: A genetic association between systemic lupus erythematosus and tumor necrosis factor alpha. Eur J Immunol. 1994, 24: 191-195. 10.1002/eji.1830240130.PubMed
39.
go back to reference Atagunduz P, Appel H, Kuon W, Wu P, Thiel A, Kloetzel PM, Sieper J: HLA-B27-restricted CD8+ T cell response to cartilage-derived self peptides in ankylosing spondylitis. Arthritis Rheum. 2005, 52: 892-901. 10.1002/art.20948.PubMed Atagunduz P, Appel H, Kuon W, Wu P, Thiel A, Kloetzel PM, Sieper J: HLA-B27-restricted CD8+ T cell response to cartilage-derived self peptides in ankylosing spondylitis. Arthritis Rheum. 2005, 52: 892-901. 10.1002/art.20948.PubMed
40.
go back to reference Palucka AK, Blanck JP, Bennett L, Pascual V, Banchereau J: Cross-regulation of TNF and IFN-alpha in autoimmune diseases. Proc Natl Acad Sci USA. 2005, 102: 3372-3377. 10.1073/pnas.0408506102.PubMedCentralPubMed Palucka AK, Blanck JP, Bennett L, Pascual V, Banchereau J: Cross-regulation of TNF and IFN-alpha in autoimmune diseases. Proc Natl Acad Sci USA. 2005, 102: 3372-3377. 10.1073/pnas.0408506102.PubMedCentralPubMed
41.
go back to reference McCarthy DD, Summers-Deluca L, Vu F, Chiu S, Gao Y, Gommerman JL: The lymphotoxin pathway: beyond lymph node development. Immunol Res. 2006, 35: 41-54. 10.1385/IR:35:1:41.PubMed McCarthy DD, Summers-Deluca L, Vu F, Chiu S, Gao Y, Gommerman JL: The lymphotoxin pathway: beyond lymph node development. Immunol Res. 2006, 35: 41-54. 10.1385/IR:35:1:41.PubMed
42.
go back to reference Singer DS, Zinger H, Kohn LD, Mozes E: Differing MHC class I requirements for induction and propagation of experimental systemic lupus erythematosus. Eur J Immunol. 1999, 29: 2259-2268. 10.1002/(SICI)1521-4141(199907)29:07<2259::AID-IMMU2259>3.0.CO;2-1.PubMed Singer DS, Zinger H, Kohn LD, Mozes E: Differing MHC class I requirements for induction and propagation of experimental systemic lupus erythematosus. Eur J Immunol. 1999, 29: 2259-2268. 10.1002/(SICI)1521-4141(199907)29:07<2259::AID-IMMU2259>3.0.CO;2-1.PubMed
43.
go back to reference D'Alfonso S, Giordano M, Mellai M, Lanceni M, Barizzone N, Marchini M, Scorza R, Danieli MG, Cappelli M, Rovere P, et al: Association tests with systemic lupus erythematosus (SLE) of IL10 markers indicate a direct involvement of a CA repeat in the 5' regulatory region. Genes Immun. 2002, 3: 454-463. 10.1038/sj.gene.6363928.PubMed D'Alfonso S, Giordano M, Mellai M, Lanceni M, Barizzone N, Marchini M, Scorza R, Danieli MG, Cappelli M, Rovere P, et al: Association tests with systemic lupus erythematosus (SLE) of IL10 markers indicate a direct involvement of a CA repeat in the 5' regulatory region. Genes Immun. 2002, 3: 454-463. 10.1038/sj.gene.6363928.PubMed
44.
go back to reference Lee YH, Witte T, Momot T, Schmidt RE, Kaufman KM, Harley JB, Sestak AL: The mannose-binding lectin gene polymorphisms and systemic lupus erythematosus: two case-control studies and a meta-analysis. Arthritis Rheum. 2005, 52: 3966-3974. 10.1002/art.21484.PubMed Lee YH, Witte T, Momot T, Schmidt RE, Kaufman KM, Harley JB, Sestak AL: The mannose-binding lectin gene polymorphisms and systemic lupus erythematosus: two case-control studies and a meta-analysis. Arthritis Rheum. 2005, 52: 3966-3974. 10.1002/art.21484.PubMed
45.
go back to reference Lee YH, Harley JB, Nath SK: CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis. Hum Genet. 2005, 116: 361-367. 10.1007/s00439-004-1244-1.PubMed Lee YH, Harley JB, Nath SK: CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis. Hum Genet. 2005, 116: 361-367. 10.1007/s00439-004-1244-1.PubMed
46.
go back to reference Lee YH, Harley JB, Nath SK: Meta-analysis of TNF-alpha promoter -308 A/G polymorphism and SLE susceptibility. Eur J Hum Genet. 2006, 14: 364-371. 10.1038/sj.ejhg.5201566.PubMed Lee YH, Harley JB, Nath SK: Meta-analysis of TNF-alpha promoter -308 A/G polymorphism and SLE susceptibility. Eur J Hum Genet. 2006, 14: 364-371. 10.1038/sj.ejhg.5201566.PubMed
47.
go back to reference Lee YH, Rho YH, Choi SJ, Ji JD, Song GG, Nath SK, Harley JB: The PTPN22 C1858T functional polymorphism and autoimmune diseases: a meta-analysis. Rheumatology (Oxford). 2006, 46: 49-56. 10.1093/rheumatology/kel170. Lee YH, Rho YH, Choi SJ, Ji JD, Song GG, Nath SK, Harley JB: The PTPN22 C1858T functional polymorphism and autoimmune diseases: a meta-analysis. Rheumatology (Oxford). 2006, 46: 49-56. 10.1093/rheumatology/kel170.
48.
go back to reference Lee YH, Rho YH, Choi SJ, Ji JD, Song GG: Angiotensin-converting enzyme insertion/deletion polymorphism and systemic lupus erythematosus: a metaanalysis. J Rheumatol. 2006, 33: 698-702.PubMed Lee YH, Rho YH, Choi SJ, Ji JD, Song GG: Angiotensin-converting enzyme insertion/deletion polymorphism and systemic lupus erythematosus: a metaanalysis. J Rheumatol. 2006, 33: 698-702.PubMed
49.
go back to reference Bagavant H, Fu SM: New insights from murine lupus: disassociation of autoimmunity and end organ damage and the role of T cells. Curr Opin Rheumatol. 2005, 17: 523-528. 10.1097/01.bor.0000169361.23325.1e.PubMed Bagavant H, Fu SM: New insights from murine lupus: disassociation of autoimmunity and end organ damage and the role of T cells. Curr Opin Rheumatol. 2005, 17: 523-528. 10.1097/01.bor.0000169361.23325.1e.PubMed
50.
go back to reference Chen YF, Morel L: Genetics of T cell defects in lupus. Cell Mol Immunol. 2005, 2: 403-409.PubMed Chen YF, Morel L: Genetics of T cell defects in lupus. Cell Mol Immunol. 2005, 2: 403-409.PubMed
51.
go back to reference Cunninghame Graham DS, Vyse TJ: The candidate gene approach: have murine models informed the study of human SLE?. Clin Exp Immunol. 2004, 137: 1-7. 10.1111/j.1365-2249.2004.02525.x.PubMedCentralPubMed Cunninghame Graham DS, Vyse TJ: The candidate gene approach: have murine models informed the study of human SLE?. Clin Exp Immunol. 2004, 137: 1-7. 10.1111/j.1365-2249.2004.02525.x.PubMedCentralPubMed
52.
go back to reference Lauwerys BR, Wakeland EK: Genetics of lupus nephritis. Lupus. 2005, 14: 2-12. 10.1191/0961203305lu2052oa.PubMed Lauwerys BR, Wakeland EK: Genetics of lupus nephritis. Lupus. 2005, 14: 2-12. 10.1191/0961203305lu2052oa.PubMed
53.
go back to reference Morel L: Mouse models of human autoimmune diseases: essential tools that require the proper controls. PLoS Biol. 2004, 2: E241-10.1371/journal.pbio.0020241.PubMedCentralPubMed Morel L: Mouse models of human autoimmune diseases: essential tools that require the proper controls. PLoS Biol. 2004, 2: E241-10.1371/journal.pbio.0020241.PubMedCentralPubMed
54.
go back to reference Rigby RJ, Fernando MM, Vyse TJ: Mice, humans and haplotypes: the hunt for disease genes in SLE. Rheumatology (Oxford). 2006, 45: 1062-1067. 10.1093/rheumatology/kel088. Rigby RJ, Fernando MM, Vyse TJ: Mice, humans and haplotypes: the hunt for disease genes in SLE. Rheumatology (Oxford). 2006, 45: 1062-1067. 10.1093/rheumatology/kel088.
55.
go back to reference Nguyen C, Limaye N, Wakeland EK: Susceptibility genes in the pathogenesis of murine lupus. Arthritis Res. 2002, 4 (Suppl 3): S255-S263. 10.1186/ar583.PubMedCentralPubMed Nguyen C, Limaye N, Wakeland EK: Susceptibility genes in the pathogenesis of murine lupus. Arthritis Res. 2002, 4 (Suppl 3): S255-S263. 10.1186/ar583.PubMedCentralPubMed
56.
go back to reference Wandstrat A, Wakeland E: The genetics of complex autoimmune diseases: non-MHC susceptibility genes. Nat Immunol. 2001, 2: 802-809. 10.1038/ni0901-802.PubMed Wandstrat A, Wakeland E: The genetics of complex autoimmune diseases: non-MHC susceptibility genes. Nat Immunol. 2001, 2: 802-809. 10.1038/ni0901-802.PubMed
57.
go back to reference Nose M, Nishihara M, Kamogawa J, Terada M, Nakatsuru S: Genetic basis of autoimmune disease in MRL/lpr mice: dissection of the complex pathological manifestations and their susceptibility loci. Rev Immunogenet. 2000, 2: 154-164.PubMed Nose M, Nishihara M, Kamogawa J, Terada M, Nakatsuru S: Genetic basis of autoimmune disease in MRL/lpr mice: dissection of the complex pathological manifestations and their susceptibility loci. Rev Immunogenet. 2000, 2: 154-164.PubMed
58.
go back to reference Campagnoli MF, Garbarini L, Quarello P, Garelli E, Carando A, Baravalle V, Doria A, Biava A, Chiocchetti A, Rosolen A, et al: The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients. Haematologica. 2006, 91: 538-541.PubMed Campagnoli MF, Garbarini L, Quarello P, Garelli E, Carando A, Baravalle V, Doria A, Biava A, Chiocchetti A, Rosolen A, et al: The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients. Haematologica. 2006, 91: 538-541.PubMed
59.
go back to reference Lachmann PJ: Lupus and desoxyribonuclease. Lupus. 2003, 12: 202-206. 10.1191/0961203303lu357xx.PubMed Lachmann PJ: Lupus and desoxyribonuclease. Lupus. 2003, 12: 202-206. 10.1191/0961203303lu357xx.PubMed
60.
go back to reference Tao K, Yasutomo K: SLE caused by DNase 1 gene mutation [in Japanese]. Nippon Rinsho. 2005, 63 (Suppl 5): 205-209.PubMed Tao K, Yasutomo K: SLE caused by DNase 1 gene mutation [in Japanese]. Nippon Rinsho. 2005, 63 (Suppl 5): 205-209.PubMed
61.
go back to reference Yasutomo K, Horiuchi T, Kagami S, Tsukamoto H, Hashimura C, Urushihara M, Kuroda Y: Mutation of DNASE1 in people with systemic lupus erythematosus. Nat Genet. 2001, 28: 313-314. 10.1038/91070.PubMed Yasutomo K, Horiuchi T, Kagami S, Tsukamoto H, Hashimura C, Urushihara M, Kuroda Y: Mutation of DNASE1 in people with systemic lupus erythematosus. Nat Genet. 2001, 28: 313-314. 10.1038/91070.PubMed
62.
go back to reference Botto M: C1q knock-out mice for the study of complement deficiency in autoimmune disease. Exp Clin Immunogenet. 1998, 15: 231-234. 10.1159/000019076.PubMed Botto M: C1q knock-out mice for the study of complement deficiency in autoimmune disease. Exp Clin Immunogenet. 1998, 15: 231-234. 10.1159/000019076.PubMed
63.
go back to reference Clynes R, Dumitru C, Ravetch JV: Uncoupling of immune complex formation and kidney damage in autoimmune glomerulonephritis. Science. 1998, 279: 1052-1054. 10.1126/science.279.5353.1052.PubMed Clynes R, Dumitru C, Ravetch JV: Uncoupling of immune complex formation and kidney damage in autoimmune glomerulonephritis. Science. 1998, 279: 1052-1054. 10.1126/science.279.5353.1052.PubMed
64.
go back to reference Subramanian S, Tus K, Li QZ, Wang A, Tian XH, Zhou J, Liang C, Bartov G, McDaniel LD, Zhou XJ, et al: A Tlr7 translocation accelerates systemic autoimmunity in murine lupus. Proc Natl Acad Sci USA. 2006, 103: 9970-9975. 10.1073/pnas.0603912103.PubMedCentralPubMed Subramanian S, Tus K, Li QZ, Wang A, Tian XH, Zhou J, Liang C, Bartov G, McDaniel LD, Zhou XJ, et al: A Tlr7 translocation accelerates systemic autoimmunity in murine lupus. Proc Natl Acad Sci USA. 2006, 103: 9970-9975. 10.1073/pnas.0603912103.PubMedCentralPubMed
65.
go back to reference Pascual V, Farkas L, Banchereau J: Systemic lupus erythematosus: all roads lead to type I interferons. Curr Opin Immunol. 2006, 18: 676-682. 10.1016/j.coi.2006.09.014.PubMed Pascual V, Farkas L, Banchereau J: Systemic lupus erythematosus: all roads lead to type I interferons. Curr Opin Immunol. 2006, 18: 676-682. 10.1016/j.coi.2006.09.014.PubMed
66.
go back to reference Lee JY, Goldman D, Piliero LM, Petri M, Sullivan KE: Interferon-gamma polymorphisms in systemic lupus erythematosus. Genes Immun. 2001, 2: 254-257. 10.1038/sj.gene.6363775.PubMed Lee JY, Goldman D, Piliero LM, Petri M, Sullivan KE: Interferon-gamma polymorphisms in systemic lupus erythematosus. Genes Immun. 2001, 2: 254-257. 10.1038/sj.gene.6363775.PubMed
67.
go back to reference Nakashima H, Inoue H, Akahoshi M, Tanaka Y, Yamaoka K, Ogami E, Nagano S, Arinobu Y, Niiro H, Otsuka T, et al: The combination of polymorphisms within interferon-gamma receptor 1 and receptor 2 associated with the risk of systemic lupus erythematosus. FEBS Lett. 1999, 453: 187-190. 10.1016/S0014-5793(99)00701-2.PubMed Nakashima H, Inoue H, Akahoshi M, Tanaka Y, Yamaoka K, Ogami E, Nagano S, Arinobu Y, Niiro H, Otsuka T, et al: The combination of polymorphisms within interferon-gamma receptor 1 and receptor 2 associated with the risk of systemic lupus erythematosus. FEBS Lett. 1999, 453: 187-190. 10.1016/S0014-5793(99)00701-2.PubMed
68.
go back to reference Hrycek A, Siekiera U, Cieslik P, Szkrobka W: HLA-DRB1 and -DQB1 alleles and gene polymorphisms of selected cytokines in systemic lupus erythematosus. Rheumatol Int. 2005, 26: 1-6. 10.1007/s00296-004-0503-8.PubMed Hrycek A, Siekiera U, Cieslik P, Szkrobka W: HLA-DRB1 and -DQB1 alleles and gene polymorphisms of selected cytokines in systemic lupus erythematosus. Rheumatol Int. 2005, 26: 1-6. 10.1007/s00296-004-0503-8.PubMed
69.
go back to reference Tanaka Y, Nakashima H, Hisano C, Kohsaka T, Nemoto Y, Niiro H, Otsuka T, Otsuka T, Imamura T, Niho Y: Association of the interferon-gamma receptor variant (Val14Met) with systemic lupus erythematosus. Immunogenetics. 1999, 49: 266-271. 10.1007/s002510050492.PubMed Tanaka Y, Nakashima H, Hisano C, Kohsaka T, Nemoto Y, Niiro H, Otsuka T, Otsuka T, Imamura T, Niho Y: Association of the interferon-gamma receptor variant (Val14Met) with systemic lupus erythematosus. Immunogenetics. 1999, 49: 266-271. 10.1007/s002510050492.PubMed
70.
go back to reference Yao X, Li YM, Hu ZJ, Li WZ, Chen ZQ: Polymorphisms within the interferon-Gamma receptor associated with systemic lupus erythematosus [in Chinese]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005, 22: 320-323.PubMed Yao X, Li YM, Hu ZJ, Li WZ, Chen ZQ: Polymorphisms within the interferon-Gamma receptor associated with systemic lupus erythematosus [in Chinese]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005, 22: 320-323.PubMed
71.
go back to reference Sigurdsson S, Nordmark G, Goring HH, Lindroos K, Wiman AC, Sturfelt G, Jonsen A, Rantapaa-Dahlqvist S, Moller B, Kere J, et al: Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet. 2005, 76: 528-537. 10.1086/428480.PubMedCentralPubMed Sigurdsson S, Nordmark G, Goring HH, Lindroos K, Wiman AC, Sturfelt G, Jonsen A, Rantapaa-Dahlqvist S, Moller B, Kere J, et al: Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet. 2005, 76: 528-537. 10.1086/428480.PubMedCentralPubMed
72.
go back to reference Graham DS, Manku H, Wagner S, Reid J, Timms K, Gutin A, Lanchbury JS, Vyse TJ: Association of IRF5 in UK SLE families identifies a variant involved in polyadenylation. Hum Mol Genet. 2007, 16: 579-591. 10.1093/hmg/ddl469.PubMedCentral Graham DS, Manku H, Wagner S, Reid J, Timms K, Gutin A, Lanchbury JS, Vyse TJ: Association of IRF5 in UK SLE families identifies a variant involved in polyadenylation. Hum Mol Genet. 2007, 16: 579-591. 10.1093/hmg/ddl469.PubMedCentral
73.
go back to reference Demirci FY, Manzi S, Ramsey-Goldman R, Minster RL, Kenney M, Shaw PS, Dunlop-Thomas CM, Kao AH, Rhew E, Bontempo F, et al: Association of a common interferon regulatory factor 5 (IRF5) variant with increased risk of systemic lupus erythematosus (SLE). Ann Hum Genet. 2007, 71: 308-311. 10.1111/j.1469-1809.2006.00336.x.PubMed Demirci FY, Manzi S, Ramsey-Goldman R, Minster RL, Kenney M, Shaw PS, Dunlop-Thomas CM, Kao AH, Rhew E, Bontempo F, et al: Association of a common interferon regulatory factor 5 (IRF5) variant with increased risk of systemic lupus erythematosus (SLE). Ann Hum Genet. 2007, 71: 308-311. 10.1111/j.1469-1809.2006.00336.x.PubMed
74.
go back to reference Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, Gonzalez Escribano MF, Pons-Estel B, et al: A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet. 2006, 38: 550-555. 10.1038/ng1782.PubMed Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, Gonzalez Escribano MF, Pons-Estel B, et al: A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet. 2006, 38: 550-555. 10.1038/ng1782.PubMed
75.
go back to reference Sawalha AH, Richardson BC: DNA methylation in the pathogenesis of systemic lupus erythematosus. Curr Pharmacogenom. 2005, 3: 73-78. 10.2174/1570160053174983. Sawalha AH, Richardson BC: DNA methylation in the pathogenesis of systemic lupus erythematosus. Curr Pharmacogenom. 2005, 3: 73-78. 10.2174/1570160053174983.
76.
go back to reference Busslinger M, Hurst J, Flavell RA: DNA methylation and the regulation of globin gene expression. Cell. 1983, 34: 197-206. 10.1016/0092-8674(83)90150-2.PubMed Busslinger M, Hurst J, Flavell RA: DNA methylation and the regulation of globin gene expression. Cell. 1983, 34: 197-206. 10.1016/0092-8674(83)90150-2.PubMed
77.
go back to reference Attwood JT, Yung RL, Richardson BC: DNA methylation and the regulation of gene transcription. Cell Mol Life Sci. 2002, 59: 241-257. 10.1007/s00018-002-8420-z.PubMed Attwood JT, Yung RL, Richardson BC: DNA methylation and the regulation of gene transcription. Cell Mol Life Sci. 2002, 59: 241-257. 10.1007/s00018-002-8420-z.PubMed
78.
go back to reference Richardson B, Scheinbart L, Strahler J, Gross L, Hanash S, Johnson M: Evidence for impaired T cell DNA methylation in systemic lupus erythematosus and rheumatoid arthritis. Arthritis Rheum. 1990, 33: 1665-1673. 10.1002/art.1780331109.PubMed Richardson B, Scheinbart L, Strahler J, Gross L, Hanash S, Johnson M: Evidence for impaired T cell DNA methylation in systemic lupus erythematosus and rheumatoid arthritis. Arthritis Rheum. 1990, 33: 1665-1673. 10.1002/art.1780331109.PubMed
79.
go back to reference Deng C, Kaplan MJ, Yang J, Ray D, Zhang Z, McCune WJ, Hanash SM, Richardson BC: Decreased Rasmitogen-activated protein kinase signaling may cause DNA hypomethylation in T lymphocytes from lupus patients. Arthritis Rheum. 2001, 44: 397-407. 10.1002/1529-0131(200102)44:2<397::AID-ANR59>3.0.CO;2-N.PubMed Deng C, Kaplan MJ, Yang J, Ray D, Zhang Z, McCune WJ, Hanash SM, Richardson BC: Decreased Rasmitogen-activated protein kinase signaling may cause DNA hypomethylation in T lymphocytes from lupus patients. Arthritis Rheum. 2001, 44: 397-407. 10.1002/1529-0131(200102)44:2<397::AID-ANR59>3.0.CO;2-N.PubMed
80.
go back to reference Cornacchia E, Golbus J, Maybaum J, Strahler J, Hanash S, Richardson B: Hydralazine and procainamide inhibit T cell DNA methylation and induce autoreactivity. J Immunol. 1988, 140: 2197-2200.PubMed Cornacchia E, Golbus J, Maybaum J, Strahler J, Hanash S, Richardson B: Hydralazine and procainamide inhibit T cell DNA methylation and induce autoreactivity. J Immunol. 1988, 140: 2197-2200.PubMed
81.
go back to reference Deng C, Lu Q, Zhang Z, Rao T, Attwood J, Yung R, Richardson B: Hydralazine may induce autoimmunity by inhibiting extracellular signal-regulated kinase pathway signaling. Arthritis Rheum. 2003, 48: 746-756. 10.1002/art.10833.PubMed Deng C, Lu Q, Zhang Z, Rao T, Attwood J, Yung R, Richardson B: Hydralazine may induce autoimmunity by inhibiting extracellular signal-regulated kinase pathway signaling. Arthritis Rheum. 2003, 48: 746-756. 10.1002/art.10833.PubMed
82.
go back to reference Yung RL, Quddus J, Chrisp CE, Johnson KJ, Richardson BC: Mechanism of drug-induced lupus. I. Cloned Th2 cells modified with DNA methylation inhibitors in vitro cause autoimmunity in vivo. J Immunol. 1995, 154: 3025-3035.PubMed Yung RL, Quddus J, Chrisp CE, Johnson KJ, Richardson BC: Mechanism of drug-induced lupus. I. Cloned Th2 cells modified with DNA methylation inhibitors in vitro cause autoimmunity in vivo. J Immunol. 1995, 154: 3025-3035.PubMed
83.
go back to reference Ballestar E, Esteller M, Richardson BC: The epigenetic face of systemic lupus erythematosus. J Immunol. 2006, 176: 7143-7147.PubMed Ballestar E, Esteller M, Richardson BC: The epigenetic face of systemic lupus erythematosus. J Immunol. 2006, 176: 7143-7147.PubMed
84.
go back to reference Chen Y, Perry D, Boackle SA, Sobel ES, Molina H, Croker BP, Morel L: Several genes contribute to the production of autore-active B and T cells in the murine lupus susceptibility locus sle1c. J Immunol. 2005, 175: 1080-1089.PubMed Chen Y, Perry D, Boackle SA, Sobel ES, Molina H, Croker BP, Morel L: Several genes contribute to the production of autore-active B and T cells in the murine lupus susceptibility locus sle1c. J Immunol. 2005, 175: 1080-1089.PubMed
85.
go back to reference Johanneson B, Lima G, von Salome J, Alarcon-Segovia D, Alarcon-Riquelme ME: A major susceptibility locus for systemic lupus erythemathosus maps to chromosome 1q31. Am J Hum Genet. 2002, 71: 1060-1071. 10.1086/344289.PubMedCentralPubMed Johanneson B, Lima G, von Salome J, Alarcon-Segovia D, Alarcon-Riquelme ME: A major susceptibility locus for systemic lupus erythemathosus maps to chromosome 1q31. Am J Hum Genet. 2002, 71: 1060-1071. 10.1086/344289.PubMedCentralPubMed
86.
go back to reference Shai R, Quismorio FP, Li L, Kwon OJ, Morrison J, Wallace DJ, Neuwelt CM, Brautbar C, Gauderman WJ, Jacob CO: Genome-wide screen for systemic lupus erythematosus susceptibility genes in multiplex families. Hum Mol Genet. 1999, 8: 639-644. 10.1093/hmg/8.4.639.PubMed Shai R, Quismorio FP, Li L, Kwon OJ, Morrison J, Wallace DJ, Neuwelt CM, Brautbar C, Gauderman WJ, Jacob CO: Genome-wide screen for systemic lupus erythematosus susceptibility genes in multiplex families. Hum Mol Genet. 1999, 8: 639-644. 10.1093/hmg/8.4.639.PubMed
87.
go back to reference Lindqvist AK, Steinsson K, Johanneson B, Kristjansdottir H, Arnasson A, Grondal G, Jonasson I, Magnusson V, Sturfelt G, Truedsson L, et al: A susceptibility locus for human systemic lupus erythematosus (hSLE1) on chromosome 2q. J Autoimmun. 2000, 14: 169-178. 10.1006/jaut.1999.0357.PubMed Lindqvist AK, Steinsson K, Johanneson B, Kristjansdottir H, Arnasson A, Grondal G, Jonasson I, Magnusson V, Sturfelt G, Truedsson L, et al: A susceptibility locus for human systemic lupus erythematosus (hSLE1) on chromosome 2q. J Autoimmun. 2000, 14: 169-178. 10.1006/jaut.1999.0357.PubMed
88.
go back to reference Morel L, Tian XH, Croker BP, Wakeland EK: Epistatic modifiers of autoimmunity in a murine model of lupus nephritis. Immunity. 1999, 11: 131-139. 10.1016/S1074-7613(00)80088-6.PubMed Morel L, Tian XH, Croker BP, Wakeland EK: Epistatic modifiers of autoimmunity in a murine model of lupus nephritis. Immunity. 1999, 11: 131-139. 10.1016/S1074-7613(00)80088-6.PubMed
89.
go back to reference Gray-McGuire C, Moser KL, Gaffney PM, Kelly J, Yu H, Olson JM, Jedrey CM, Jacobs KB, Kimberly RP, Neas BR, et al: Genome scan of human systemic lupus erythematosus by regression modeling: evidence of linkage and epistasis at 4p16-15.2. Am J Hum Genet. 2000, 67: 1460-1469. 10.1086/316891.PubMedCentralPubMed Gray-McGuire C, Moser KL, Gaffney PM, Kelly J, Yu H, Olson JM, Jedrey CM, Jacobs KB, Kimberly RP, Neas BR, et al: Genome scan of human systemic lupus erythematosus by regression modeling: evidence of linkage and epistasis at 4p16-15.2. Am J Hum Genet. 2000, 67: 1460-1469. 10.1086/316891.PubMedCentralPubMed
90.
go back to reference Xing C, Sestak AL, Kelly JA, Nguyen KL, Bruner GR, Harley JB, Gray-McGuire C: Localization and replication of the systemic lupus erythematosus linkage signal at 4p16: interaction with 2p11, 12q24 and 19q13 in European Americans. Hum Genet. 2007, 120: 623-631. 10.1007/s00439-006-0248-4.PubMed Xing C, Sestak AL, Kelly JA, Nguyen KL, Bruner GR, Harley JB, Gray-McGuire C: Localization and replication of the systemic lupus erythematosus linkage signal at 4p16: interaction with 2p11, 12q24 and 19q13 in European Americans. Hum Genet. 2007, 120: 623-631. 10.1007/s00439-006-0248-4.PubMed
91.
go back to reference Subramanian S, Yim YS, Liu K, Tus K, Zhou XJ, Wakeland EK: Epistatic suppression of systemic lupus erythematosus: fine mapping of sles1 to less than 1 mb. J Immunol. 2005, 175: 1062-1072.PubMed Subramanian S, Yim YS, Liu K, Tus K, Zhou XJ, Wakeland EK: Epistatic suppression of systemic lupus erythematosus: fine mapping of sles1 to less than 1 mb. J Immunol. 2005, 175: 1062-1072.PubMed
92.
go back to reference Cantor RM, Yuan J, Napier S, Kono N, Grossman JM, Hahn BH, Tsao BP: Systemic lupus erythematosus genome scan: support for linkage at 1q23, 2q33, 16q12-13, and 17q21-23 and novel evidence at 3p24, 10q23-24, 13q32, and 18q22-23. Arthritis Rheum. 2004, 50: 3203-3210. 10.1002/art.20511.PubMed Cantor RM, Yuan J, Napier S, Kono N, Grossman JM, Hahn BH, Tsao BP: Systemic lupus erythematosus genome scan: support for linkage at 1q23, 2q33, 16q12-13, and 17q21-23 and novel evidence at 3p24, 10q23-24, 13q32, and 18q22-23. Arthritis Rheum. 2004, 50: 3203-3210. 10.1002/art.20511.PubMed
93.
go back to reference Quintero-Del-Rio AI, Kelly JA, Garriott CP, Hutchings DC, Frank SG, Aston CE, Harley JB: SLEN2 (2q34-35) and SLEN1 (10q22.3) replication in systemic lupus erythematosus stratified by nephritis. Am J Hum Genet. 2004, 75: 346-348. 10.1086/422460.PubMedCentralPubMed Quintero-Del-Rio AI, Kelly JA, Garriott CP, Hutchings DC, Frank SG, Aston CE, Harley JB: SLEN2 (2q34-35) and SLEN1 (10q22.3) replication in systemic lupus erythematosus stratified by nephritis. Am J Hum Genet. 2004, 75: 346-348. 10.1086/422460.PubMedCentralPubMed
94.
go back to reference Quintero-Del-Rio AI, Kelly JA, Kilpatrick J, James JA, Harley JB: The genetics of systemic lupus erythematosus stratified by renal disease: linkage at 10q22.3 (SLEN1), 2q34-35 (SLEN2), and 11p15.6 (SLEN3). Genes Immun. 2002, 3 (Suppl 1): S57-S62. 10.1038/sj.gene.6363901.PubMed Quintero-Del-Rio AI, Kelly JA, Kilpatrick J, James JA, Harley JB: The genetics of systemic lupus erythematosus stratified by renal disease: linkage at 10q22.3 (SLEN1), 2q34-35 (SLEN2), and 11p15.6 (SLEN3). Genes Immun. 2002, 3 (Suppl 1): S57-S62. 10.1038/sj.gene.6363901.PubMed
95.
go back to reference Nath SK, Quintero-Del-Rio AI, Kilpatrick J, Feo L, Ballesteros M, Harley JB: Linkage at 12q24 with systemic lupus erythematosus (SLE) is established and confirmed in Hispanic and European American families. Am J Hum Genet. 2004, 74: 73-82. 10.1086/380913.PubMedCentralPubMed Nath SK, Quintero-Del-Rio AI, Kilpatrick J, Feo L, Ballesteros M, Harley JB: Linkage at 12q24 with systemic lupus erythematosus (SLE) is established and confirmed in Hispanic and European American families. Am J Hum Genet. 2004, 74: 73-82. 10.1086/380913.PubMedCentralPubMed
96.
go back to reference Gaffney PM, Ortmann WA, Selby SA, Shark KB, Ockenden TC, Rohlf KE, Walgrave NL, Boyum WP, Malmgren ML, Miller ME, et al: Genome screening in human systemic lupus erythematosus: results from a second Minnesota cohort and combined analyses of 187 sib-pair families. Am J Hum Genet. 2000, 66: 547-556. 10.1086/302767.PubMedCentralPubMed Gaffney PM, Ortmann WA, Selby SA, Shark KB, Ockenden TC, Rohlf KE, Walgrave NL, Boyum WP, Malmgren ML, Miller ME, et al: Genome screening in human systemic lupus erythematosus: results from a second Minnesota cohort and combined analyses of 187 sib-pair families. Am J Hum Genet. 2000, 66: 547-556. 10.1086/302767.PubMedCentralPubMed
97.
go back to reference Nath SK, Namjou B, Hutchings D, Garriott CP, Pongratz C, Guthridge J, James JA: Systemic lupus erythematosus (SLE) and chromosome 16: confirmation of linkage to 16q12-13 and evidence for genetic heterogeneity. Eur J Hum Genet. 2004, 12: 668-672. 10.1038/sj.ejhg.5201209.PubMed Nath SK, Namjou B, Hutchings D, Garriott CP, Pongratz C, Guthridge J, James JA: Systemic lupus erythematosus (SLE) and chromosome 16: confirmation of linkage to 16q12-13 and evidence for genetic heterogeneity. Eur J Hum Genet. 2004, 12: 668-672. 10.1038/sj.ejhg.5201209.PubMed
98.
go back to reference Namjou B, Nath SK, Kilpatrick J, Kelly JA, Reid J, James JA, Harley JB: Stratification of pedigrees multiplex for systemic lupus erythematosus and for self-reported rheumatoid arthritis detects a systemic lupus erythematosus susceptibility gene (SLER1) at 5p15.3. Arthritis Rheum. 2002, 46: 2937-2945. 10.1002/art.10588.PubMed Namjou B, Nath SK, Kilpatrick J, Kelly JA, Reid J, James JA, Harley JB: Stratification of pedigrees multiplex for systemic lupus erythematosus and for self-reported rheumatoid arthritis detects a systemic lupus erythematosus susceptibility gene (SLER1) at 5p15.3. Arthritis Rheum. 2002, 46: 2937-2945. 10.1002/art.10588.PubMed
99.
go back to reference Nath SK, Namjou B, Garriott CP, Frank S, Joslin PA, Kilpatrick J, Kelly JA, Harley JB: Linkage analysis of SLE susceptibility: confirmation of SLER1 at 5p15.3. Genes Immun. 2004, 5: 209-214. 10.1038/sj.gene.6364060.PubMed Nath SK, Namjou B, Garriott CP, Frank S, Joslin PA, Kilpatrick J, Kelly JA, Harley JB: Linkage analysis of SLE susceptibility: confirmation of SLER1 at 5p15.3. Genes Immun. 2004, 5: 209-214. 10.1038/sj.gene.6364060.PubMed
100.
go back to reference Namjou B, Kelly JA, Kilpatrick J, Kaufman KM, Nath SK, Scofield RH, Harley JB: Linkage at 5q14.3-15 in multiplex systemic lupus erythematosus pedigrees stratified by autoimmune thyroid disease. Arthritis Rheum. 2005, 52: 3646-3650. 10.1002/art.21413.PubMed Namjou B, Kelly JA, Kilpatrick J, Kaufman KM, Nath SK, Scofield RH, Harley JB: Linkage at 5q14.3-15 in multiplex systemic lupus erythematosus pedigrees stratified by autoimmune thyroid disease. Arthritis Rheum. 2005, 52: 3646-3650. 10.1002/art.21413.PubMed
101.
go back to reference Nath SK, Namjou B, Kilpatrick J, Garriott CP, Bruner GR, Scofield RH, Harley JB: A candidate region on 11p13 for systemic lupus erythematosus: a linkage identified in African-American families. J Investig Dermatol Symp Proc. 2004, 9: 64-67. 10.1111/j.1087-0024.2004.00830.x.PubMed Nath SK, Namjou B, Kilpatrick J, Garriott CP, Bruner GR, Scofield RH, Harley JB: A candidate region on 11p13 for systemic lupus erythematosus: a linkage identified in African-American families. J Investig Dermatol Symp Proc. 2004, 9: 64-67. 10.1111/j.1087-0024.2004.00830.x.PubMed
102.
go back to reference Scofield RH, Bruner GR, Kelly JA, Kilpatrick J, Bacino D, Nath SK, Harley JB: Thrombocytopenia identifies a severe familial phenotype of systemic lupus erythematosus and reveals genetic linkages at 1q22 and 11p13. Blood. 2003, 101: 992-997. 10.1182/blood-2002-04-1003.PubMed Scofield RH, Bruner GR, Kelly JA, Kilpatrick J, Bacino D, Nath SK, Harley JB: Thrombocytopenia identifies a severe familial phenotype of systemic lupus erythematosus and reveals genetic linkages at 1q22 and 11p13. Blood. 2003, 101: 992-997. 10.1182/blood-2002-04-1003.PubMed
103.
go back to reference Kelly JA, Thompson K, Kilpatrick J, Lam T, Nath SK, Gray-McGuire C, Reid J, Namjou B, Aston CE, Bruner GR, et al: Evidence for a susceptibility gene (SLEH1) on chromosome 11q14 for systemic lupus erythematosus (SLE) families with hemolytic anemia. Proc Natl Acad Sci USA. 2002, 99: 11766-11771. 10.1073/pnas.182162399.PubMedCentralPubMed Kelly JA, Thompson K, Kilpatrick J, Lam T, Nath SK, Gray-McGuire C, Reid J, Namjou B, Aston CE, Bruner GR, et al: Evidence for a susceptibility gene (SLEH1) on chromosome 11q14 for systemic lupus erythematosus (SLE) families with hemolytic anemia. Proc Natl Acad Sci USA. 2002, 99: 11766-11771. 10.1073/pnas.182162399.PubMedCentralPubMed
104.
go back to reference Sawalha AH, Namjou B, Nath SK, Kilpatrick J, Germundson A, Kelly JA, Hutchings D, James J, Harley J: Genetic linkage of systemic lupus erythematosus with chromosome 11q14 (SLEH1) in African-American families stratified by a nucleolar antinuclear antibody pattern. Genes Immun. 2002, 3 (Suppl 1): S31-S34. 10.1038/sj.gene.6363904.PubMed Sawalha AH, Namjou B, Nath SK, Kilpatrick J, Germundson A, Kelly JA, Hutchings D, James J, Harley J: Genetic linkage of systemic lupus erythematosus with chromosome 11q14 (SLEH1) in African-American families stratified by a nucleolar antinuclear antibody pattern. Genes Immun. 2002, 3 (Suppl 1): S31-S34. 10.1038/sj.gene.6363904.PubMed
105.
go back to reference Spritz RA, Gowan K, Bennett DC, Fain PR: Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and 8 (AIS3), confirmation of SLEV1 on chromosome 17, and their roles in an autoimmune diathesis. Am J Hum Genet. 2004, 74: 188-191. 10.1086/381134.PubMedCentralPubMed Spritz RA, Gowan K, Bennett DC, Fain PR: Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and 8 (AIS3), confirmation of SLEV1 on chromosome 17, and their roles in an autoimmune diathesis. Am J Hum Genet. 2004, 74: 188-191. 10.1086/381134.PubMedCentralPubMed
106.
go back to reference Namjou B, Nath SK, Kilpatrick J, Kelly JA, Reid J, Reichlin M, James JA, Harley JB: Genome scan stratified by the presence of anti-double-stranded DNA (dsDNA) autoantibody in pedigrees multiplex for systemic lupus erythematosus (SLE) establishes linkages at 19p13.2 (SLED1) and 18q21.1 (SLED2). Genes Immun. 2002, 3 (Suppl 1): S35-S41. 10.1038/sj.gene.6363905.PubMed Namjou B, Nath SK, Kilpatrick J, Kelly JA, Reid J, Reichlin M, James JA, Harley JB: Genome scan stratified by the presence of anti-double-stranded DNA (dsDNA) autoantibody in pedigrees multiplex for systemic lupus erythematosus (SLE) establishes linkages at 19p13.2 (SLED1) and 18q21.1 (SLED2). Genes Immun. 2002, 3 (Suppl 1): S35-S41. 10.1038/sj.gene.6363905.PubMed
107.
go back to reference Hogarth MB, Slingsby JH, Allen PJ, Thompson EM, Chandler P, Davies KA, Simpson E, Morley BJ, Walport MJ: Multiple lupus susceptibility loci map to chromosome 1 in BXSB mice. J Immunol. 1998, 161: 2753-2761.PubMed Hogarth MB, Slingsby JH, Allen PJ, Thompson EM, Chandler P, Davies KA, Simpson E, Morley BJ, Walport MJ: Multiple lupus susceptibility loci map to chromosome 1 in BXSB mice. J Immunol. 1998, 161: 2753-2761.PubMed
Metadata
Title
Current status of lupus genetics
Authors
Andrea L Sestak
Swapan K Nath
Amr H Sawalha
John B Harley
Publication date
01-06-2007
Publisher
BioMed Central
Published in
Arthritis Research & Therapy / Issue 3/2007
Electronic ISSN: 1478-6362
DOI
https://doi.org/10.1186/ar2176

Other articles of this Issue 3/2007

Arthritis Research & Therapy 3/2007 Go to the issue