The genetic contribution to systemic lupus erythematosus

Bulletin of the NYU Hospital for Joint Diseases

Volumn 66, Issue 3, 2008, Pages 176-183

  Criswell, Lindsey A ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Division of Rheumatology   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FC RECEPTOR IIA; INTERFERON REGULATORY FACTOR 5; PROTEIN TYROSINE PHOSPHATASE; STAT4 PROTEIN;

CONFERENCE PAPER; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENOME; HEREDITY; HLA SYSTEM; HUMAN; PATHOGENESIS; RISK FACTOR; SYSTEMIC LUPUS ERYTHEMATOSUS;

ANTIGENS, CD; APOPTOSIS REGULATORY PROTEINS; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HLA ANTIGENS; HUMANS; INTERFERON REGULATORY FACTORS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MODELS, GENETIC; POLYMORPHISM, GENETIC; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 22; RECEPTORS, IGG; RISK FACTORS; STAT4 TRANSCRIPTION FACTOR;

EID: 53649108948     PISSN: 19369719     EISSN: 19369727     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (51)

1. Tan EM, Cohen AS, Fries JF, et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum. 1982;25:1271-7.
2. Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus [letter]. Arthritis Rheum. 1997;40(9):1725.
3. Mason LJ, Isenberg D. The pathogenesis of systemic lupus erythematosus. In: Davidson AM, Cameron JS, Grunfeld JP, et al. (eds): Oxford Textbook of Clinical Nephrology, Oxford, England: Oxford University Press, 2005, pp. 809-829.
4. Costenbader KH, Kim DJ, Peerzada J, et al. Cigarette smoking and the risk of systemic lupus erythematosus: a meta-analysis. Arthritis Rheum. 2004;50(3):849-57.
5. James JA, Kaufman KM, Farris AD, et al. An increased prevalence of Epstein-Barr virus infection in young patients suggests a possible etiology for systemic lupus erythematosus. J Clin Invest. 1997;100(12):3019-26.
6. Block SR, Winfield JB, Lockshin MD, et al. Studies of twins with systemic lupus erythematosus. Am J Med. 1975;59:533-52.
7. Deapen D, Escalante A, Weinrib L, et al. A revised estimate of twin concordance in systemic lupus erythematosus. Arthritis Rheum. 1992;35(3):311-8.
8. Risch N. Linkage strategies for genetically complex traits. I. Multilocus models. Am J Hum Genet. 1990;46(2):222-8.
9. Horton R, Wilming L, Rand V, et al. Gene map of the extended human MHC. Nat Rev Genet. 2004;5(12):889-99.
10. Walport MJ. Complement and systemic lupus erythematosus. Arthritis Res. 2002;4(Suppl 3):S279-93.
11. Graham RR, Ortmann WA, Langefeld CD, et al. Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus. Am J Hum Genet. 2002;71(3):543-53.
12. Graham RR, Ortmann W, Rodine P, et al. Specific combinations of HLA-DR2 and DR3 class II haplotypes contribute graded risk for disease susceptibility and autoantibodies in human SLE. Eur J Hum Genet. 2007;15(8):823-30.
13. Fernando MM, Stevens CR, Sabeti PC, et al. Identification of two independent risk factors for lupus within the MHC in United Kingdom families. PLoS Genet. 2007;3(11):e192.
14. 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(6):1563-71.
15. Karassa FB, Bijl M, Davies KA, et al. Role of the Fcgamma receptor IIA polymorphism in the antiphospholipid syndrome: an international meta-analysis. Arthritis Rheum. 2003;48(7):1930-8.
16. 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(4):1475-82.
17. Bottini N, Musumeci L, Alonso A, et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet. 2004;36(4):337-8.
18. Begovich AB, Carlton VEH, Honinberg LA, et al. A missense SNP in the protein tyrosine phosphatase PTPN22 is associated with rheumatoid arthritis. Am J Hum Genet. 2004;75(2):330-7.
19. Kyogoku C, Langefeld CD, Ortmann WA, et al. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet. 2004;75(3):504-7.
20. Hasegawa K, Martin F, Huang G, et al. PEST domain-enriched tyrosine phosphatase (PEP) regulation of effector/memory T cells. Science. 2004;303(5658):685-9.
21. Chung SA, Criswell LA. PTPN22: its role in SLE and autoimmunity. Autoimmunity. 2007;40(8):582-90.
22. Lee YH, Rho YH, Choi SJ, et al. The PTPN22 C1858T functional polymorphism and autoimmune diseases - a meta-analysis. Rheumatology (Oxford). 2007;46(1):49-56.
23. Prokunina L, Castillejo-Lopez C, Oberg F, et al. A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet. 2002;32(4):666-9.
24. Munoz LE, Gaipl US, Franz S, Sheriff A, et al. SLE - a disease of clearance deficiency? Rheumatology (Oxford). 2005;44(9):1101-7.
25. Lin SC, Yen JH, Tsai JJ, et al. Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus. Arthritis Rheum. 2004;50(3):770-5.
26. Ferreiros-Vidal I, Gomez-Reino JJ, Barros F, et al. Association of PDCD1 with susceptibility to systemic lupus erythematosus: evidence of population-specific effects. Arthritis Rheum. 2004;50(8):2590-7.
27. Sanghera DK, Manzi S, Bontempo F, et al. Role of an intronic polymorphism in the PDCD1 gene with the risk of sporadic systemic lupus erythematosus and the occurrence of antiphospholipid antibodies. Hum Genet. 2004;115(5):393-8.
28. Thorburn CM, Prokunina-Olsson L, Sterba KA, et al. Association of PDCD1 genetic variation with risk and clinical manifestations of systemic lupus erythematosus in a multi-ethnic cohort. Genes Immun. 2007;8(4):279-87.
29. Prokunina L, Gunnarsson I, Sturfelt G, et al. The systemic lupus erythematosus-associated PDCD1 polymorphism PD1.3A in lupus nephritis. Arthritis Rheum. 2004;50(1):327-8.
30. 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(6):1665-9.
31. Nielsen C, Laustrup H, Voss A, et al. A putative regulatory polymorphism in PD-1 is associated with nephropathy in a population-based cohort of systemic lupus erythematosus patients. Lupus. 2004;13(7):510-6.
32. Sigurdsson S, Nordmark G, Goring HH, 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(3):528-37.
33. Graham RR, Kozyrev SV, Baechler EC, 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(5):550-5.
34. Graham RR, Kyogoku C, Sigurdsson S, et al. Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci U S A. 2007;104(16):6758-63.
35. Amos CI, Chen WV, Lee A, et al. High-density SNP analysis of 642 Caucasian families with rheumatoid arthritis identifies two new linkage regions on 11p12 and 2q33. Genes Immun. 2006;7(4):277-86.
36. Remmers EF, Plenge RM, Lee AT, et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med. 2007;357(10):977-86.
37. Watford WT, Hissong BD, Bream JH, et al. Signaling by IL-12 and IL-23 and the immunoregulatory roles of STAT4. Immunol Rev. 2004;202:139-56.
38. Finnegan A, Grusby MJ, Kaplan CD, et al. IL-4 and IL-12 regulate proteoglycan-induced arthritis through Stat-dependent mechanisms. J Immunol. 2002;169(6):3345-52.
39. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007;447(7145):661-78.
40. Hafler DA, Compston A, Sawcer S, et al. Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med. 2007;357(9):851-62.
41. Plenge RM, Seielstad M, Padyukov L, et al. TRAF1-C5 as a risk locus for rheumatoid arthritis - a genomewide study. N Engl J Med. 2007;357(12):1199-209.
42. Rioux JD, Xavier RJ, Taylor KD, et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet. 2007;39(5):596-604.
43. Harley JB, Alarcon-Riquelme ME, Criswell LA, 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(2):204-10.
44. Hom G, Graham RR, Modrek B, et al. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med. 2008;358(9):900-9.
45. Kozyrev SV, Abelson AK, Wojcik J, et al. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet. 2008;40(2):211-6.
46. Nath SK, Han S, Kim-Howard X, et al. A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus. Nat Genet. 2008;40(2):152-4.
47. Crow MK. Collaboration, genetic associations, and lupus erythematosus. N Engl J Med. 2008;358(9):956-61.
48. Vyse TJ, Todd JA. Genetic analysis of autoimmune disease. Cell 1996;85(3):311-8.
49. Alarcon-Segovia D, Alarcon-Riquelme ME, Cardiel MH, 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(4):1138-47.
50. Seldin MF, Amos CI, Ward R, Gregersen PK. The genetics revolution and the assault on rheumatoid arthritis. Arthritis Rheum. 1999;42(6):1071-9.
51. Hasstedt SJ, Clegg DO, Ingles L, Ward RH. HLA-linked rheumatoid arthritis. Am J Hum Genet. 1994;55:738-46.