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Arthritis Research & Therapy

Erschienen in:

01.06.2007 | Review

Current status of lupus genetics

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

Erschienen in: Arthritis Research & Therapy | Ausgabe 3/2007

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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.

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

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

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

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

Risch N: Genetic linkage and complex diseases, with special reference to psychiatric disorders. Genet Epidemiol. 1990, 7: 3-16. 10.1002/gepi.1370070103.PubMed

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

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

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Hauptmann G, Tappeiner G, Schifferli JA: Inherited deficiency of the fourth component of human complement. Immunodefic Rev. 1988, 1: 3-22.PubMed

34.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Chen YF, Morel L: Genetics of T cell defects in lupus. Cell Mol Immunol. 2005, 2: 403-409.PubMed

51.

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.

Lauwerys BR, Wakeland EK: Genetics of lupus nephritis. Lupus. 2005, 14: 2-12. 10.1191/0961203305lu2052oa.PubMed

53.

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.

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.

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.

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.

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.

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.

Lachmann PJ: Lupus and desoxyribonuclease. Lupus. 2003, 12: 202-206. 10.1191/0961203303lu357xx.PubMed

60.

Tao K, Yasutomo K: SLE caused by DNase 1 gene mutation [in Japanese]. Nippon Rinsho. 2005, 63 (Suppl 5): 205-209.PubMed

61.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Sawalha AH, Richardson BC: DNA methylation in the pathogenesis of systemic lupus erythematosus. Curr Pharmacogenom. 2005, 3: 73-78. 10.2174/1570160053174983.

76.

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.

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.

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.

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.

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.

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.

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.

Ballestar E, Esteller M, Richardson BC: The epigenetic face of systemic lupus erythematosus. J Immunol. 2006, 176: 7143-7147.PubMed

84.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

Titel: Current status of lupus genetics
verfasst von: Andrea L Sestak
Swapan K Nath
Amr H Sawalha
John B Harley
Publikationsdatum: 01.06.2007
Verlag: BioMed Central
Erschienen in: Arthritis Research & Therapy / Ausgabe 3/2007
Elektronische ISSN: 1478-6362
DOI: https://doi.org/10.1186/ar2176

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