Haplotypes of the HRES-1 endogenous retrovirus are associated with development and disease manifestations of systemic lupus erythematosus

Arthritis and Rheumatism

Volumn 58, Issue 2, 2008, Pages 532-540

  Pullmann Jr , Rudolf ^a   Bonilla, Eduardo ^a   Phillips, Paul E ^a   Middleton, Frank A ^a   Perl, Andras ^a  

^a SUNY UPSTATE MEDICAL UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ANTIPHOSPHOLIPID SYNDROME; ARTICLE; CAUCASIAN; CONTROLLED STUDY; DISEASE COURSE; ENDOGENOUS RETROVIRUS; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE SEQUENCE; GENETIC LINKAGE; HAPLOTYPE; HUMAN; KIDNEY DISEASE; LUNG DISEASE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS;

AFRICAN AMERICANS; ANTIGENS, NUCLEAR; ASIAN AMERICANS; AUTOANTIGENS; CONTINENTAL POPULATION GROUPS; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HISPANIC AMERICANS; HUMANS; LINKAGE DISEQUILIBRIUM; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MICROSATELLITE REPEATS; POLYMORPHISM, SINGLE NUCLEOTIDE; RETROVIRIDAE PROTEINS;

EID: 39749200830     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.23161     Document Type: Article

References (46)

1. Steinberg AD, Gourley MF, Klinman DM, Tsokos GC, Scott DE, Krieg AM. Systemic lupus erythematosus. Ann Intern Med 1991;115:548-59.
2. Rich SA. Human lupus inclusions and interferon. Science 1981;213:772-5.
3. James JJ, Kaufman KM, Farris AD, Taylor-Albert E, Lehman TJ, Harley JB. An increased prevalence of Epstein-Barr virus infection in young patients suggests a possible etiology for systemic lupus erythematosus. J Clin Invest 1997;100:3019-26.
4. Mellors RC, Mellors JW. Type C RNA virus-specific antibody in human SLE demonstrated by enzymoimmunoassay. Proc Natl Acad Sci U S A 1978;75:2463-7.
5. Perl A. Mechanisms of viral pathogenesis in rheumatic disease. Ann Rheum Dis 1999;58:454-61.
6. Hicks JT, Aulakh GS, McGrath PP, Washington GC, Kim E, Alepa FP. Search for Epstein-Barr and type C oncornaviruses in systemic lupus erythematosus. Arthritis Rheum 1979;22:845-57.
7. Yoshiki T, Mellors RC, Strand M, August JT. The viral envelope glycoprotein of murine leukemia virus and the pathogenesis of immune complex glomerulonephritis of New Zealand mice. J Exp Med 1974;140:1011-25.
8. Krieg AM, Steinberg AD. Analysis of thymic endogenous retroviral expression in murine lupus. J Clin Invest 1990;86:809-16.
9. Krieg AM, Gourley MF, Perl A. Endogenous retroviruses: potential etiologic agents in autoimmunity [review]. FASEB J 1992;6:2537-44.
10. Banki K, Maceda J, Hurley E, Ablonczy E, Mattson DH, Szegedy L, et al. Human T-cell lymphotropic virus (HTLV)-related endogenous sequence, HRES-1, encodes a 28-kDa protein: a possible autoantigen for HTLV-I gag-reactive autoantibodies. Proc Natl Acad Sci U S A 1992;89:1939-43.
11. Perl A, Colombo E, Dai H, Agarwal R, Mark KA, Banki K, et al. Antibody reactivity to the HRES-1 endogenous retroviral element identifies a subset of patients with systemic lupus erythematosus and overlap syndromes: correlation with antinuclear antibodies and HLA class II alleles. Arthritis Rheum 1995;38:1660-71.
12. Brookes SM, Pandolfino YA, Mitchell TJ, Venables TJ, Shattles WG, Clark DA, et al. The immune response to and expression of cross-reactive retroviral gag sequences in autoimmune disease. Br J Rheumatol 1992;31:735-42.
13. Bengtsson A, Blomberg J, Nived O, Pipkorn R, Toth L, Sturfelt G. Selective antibody reactivity with peptides from human endogenous retroviruses and nonviral poly(amino acids) in patients with systemic lupus erythematosus. Arthritis Rheum 1996;39:1654-63.
14. Magistrelli C, Samoilova E, Agarwal RK, Banki K, Ferrante P, Vladutiu A, et al. Polymorphic genotypes of the HRES-1 human endogenous retrovirus locus correlate with systemic lupus erythematosus and autoreactivity. Immunogenetics 1999;49:829-34.
15. Colmegna I, Garry RF. Role of endogenous retroviruses in autoimmune diseases [review]. Infect Dis Clin North Am 2006;20:913-29.
16. Perl A, Banki K. Molecular mimicry, altered apoptosis, and immunomodulation as mechanisms of viral pathogenesis in systemic lupus erythematosus. In: Kammer GM, Tsokos GC, editors. Lupus: molecular and cellular pathogenesis. Totowa (NJ): Humana Press; 1999. p. 43-64.
17. Perl A, Banki K. Human endogenous retroviral elements and autoimmunity: data and concepts. Trends Microbiol 1993;1:153-6.
18. Nagy G, Ward J, Mosser DD, Koncz A, Gergely P, Stancato C, et al. Regulation of CD4 expression via recycling by HRES-1/Rab4 controls susceptibility to HIV infection. J Biol Chem 2006;281:34574-91.
19. Magistrelli C, Banki K, Ferrante P, Perl A. Mapping and cloning of polymorphic genotypes of the HRES-1 LTR [abstract]. Arthritis Rheum 1994;37 Suppl 9:S316.
20. Tsao BP, Cantor RM, Kalunian KC, Chen CJ, Badsha H, Singh R, et al. Evidence for linkage of a candidate chromosome 1 region to human systemic lupus erythematosus. J Clin Invest 1997;99:725-31.
21. Gaffney PM, Kearns GM, Shark KB, Ortmann WA, Selby SA, Malmgren ML, et al. A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families. Proc Natl Acad Sci U S A 1998;95:14875-9.
22. Moser KL, Neas BR, Salmon JE, Yu H, Gray-McGuire C, Asundi N, et al. Genome scan of human systemic lupus erythematosus: evidence for linkage on chromosome 1q in African-American pedigrees. Proc Natl Acad Sci U S A 1998;95:14869-74.
23. Shai R, Quismorio FP Jr, Li L, Kwon OJ, Morrison J, Wallace DJ, et al. Genome-wide screen for systemic lupus erythematosus susceptibility genes in multiplex families. Hum Mol Genet 1999;8:639-44.
24. Tsao BP. Lupus susceptibility genes on human chromosome 1 [review]. Int Rev Immunol 2000;19:319-34.
25. Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, Rothfield NF, et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982;25:1271-7.
26. Miyakis S, Lockshin MD, Atsumi T, Branch DW, Brey RL, Cervera R, et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost 2006;4:295-306.
27. Bombardier C, Gladman DD, Urowitz MB, Caron D, Chang CH, and the Committee on Prognosis Studies in SLE. Derivation of the SLEDAI: a disease activity index for lupus patients. Arthritis Rheum 1992;35:630-40.
28. Perl A, Rosenblatt JD, Chen IS, DiVincenzo JP, Bever R, Poiesz BJ, et al. Detection and cloning of new HTLV-related endogenous sequences in man. Nucleic Acids Res 1989;17:6841-54.
29. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus. Am J Hum Genet 1993;52:506-16.
30. Barrett JC, Fry B, Mailer J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263-5.
31. Rasmussen HB, Clausen J. A novel haplotype of the endogenous retrovirus, HRES-1, in patients with multiple sclerosis and healthy individuals. Autoimmunity 1999;29:141-5.
32. Harley J, Kelly J, Kaufman K. Unraveling the genetics of systemic lupus erythematosus. Springer Semin Immunopathol 2006;28:119-30.
33. Murty VV, Li RG, Mathew S, Reuter VE, Bronson DL, Bosl GJ, et al. Replication error-type genetic instability at 1q42-43 in human male germ cell tumors. Cancer Res 1994;54:3983-5.
34. Rocchi A, Pelliccia F. Synergistic effect of DAPI and thymidylate stress conditions on the induction of common fragile sites. Cytogenet Cell Genet 1988;48:51-4.
35. Groudine M, Eisenman R, Weintraub H. Chromatin structure of endogenous retroviral genes and activation by an inhibitor of DNA methylation. Nature 1985;292:311-7.
36. Schmid M, Ott G, Haaf T, Scheres JM. Evolutionary conservation of fragile sites induced by 5-azacytidine and 5-azadeoxycytidine: in man, gorilla, and chimpanzee. Hum Genet 1985;71:342-50.
37. Feichtinger W, Schmid M. Increased frequencies of sister chromatid exchanges at common fragile sites 1q42 and 19ql3. Hum Genet 1989;83:145-7.
38. Rasmussen HB, Kelly MA, Francis DA, Clausen J. Association between the endogenous retrovirus HRES-1 and multiple sclerosis in the United Kingdom: evidence of genetically different disease subsets? Dis Markers 2000;16:101-4.
39. Balamuth F, Brogdon JL, Bottomly K. CD4 raft association and signaling regulate molecular clustering at the immunological synapse site. J Immunol 2004;172:5887-92.
40. Krishnan S, Nambiar MP, Warke VG, Fisher CU, Mitchell J, Delaney N, et al. Alterations in lipid raft composition and dynamics contribute to abnormal T cell responses in systemic lupus erythematosus. J Immunol 2004;172:7821-31.
41. Sgarbanti M, Borsetti A, Moscufo N, Bellocchi MC, Ridolfi B, Nappi F, et al. Modulation of human immunodeficiency virus 1 replication by interferon regulatory factors. J Exp Med 2002;195:1359-70.
42. Battaglioli E, Gotti C, Terzano S, Flora A, Clementi F, Fornasari D. Expression and transcriptional regulation of the human α3 neuronal nicotinic receptor subunit in T lymphocyte cell lines. J Neurochem 1998;71:1261-70.
43. Rus V, Via CS. Cytokines in systemic lupus erythematosus. In: Tsokos GC, Gordon C, Smolen JS, editors. Systemic lupus erythematosus: a companion to rheumatology. Philadelphia: Mosby-Elsevier; 2007. p. 109-20.
44. Tsokos GC, Boumpas DT, Smith PL, Djeu JY, Balow JE, Rook AH. Deficient γ-interferon production in patients with systemic lupus erythematosus. Arthritis Rheum 1986;29:1210-5.
45. Kirou KA, Lee C, George S, Louca K, Papagiannis IG, Peterson MG, et al. Coordinate overexpression of interferon-α-induced genes in systemic lupus erythematosus. Arthritis Rheum 2004;50:3958-67.
46. Reilly CM, Olgun S, Goodwin D, Gogal RM Jr, Santo A, Romesburg JW, et al. Interferon regulatory factor-1 gene deletion decreases glomerulonephritis in MRL/lpr mice. Eur J Immunol 2006;36:1296-308.