Genetic susceptibility to the connective tissue diseases

Current Opinion in Rheumatology

Volumn 11, Issue 5, 1999, Pages 399-407

  McCurdy, Deborah ^a  

^a CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HLA ANTIGEN CLASS 1; HLA ANTIGEN CLASS 2;

ANKYLOSING SPONDYLITIS; AUTOIMMUNE DISEASE; CONNECTIVE TISSUE DISEASE; DERMATOMYOSITIS; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HLA SYSTEM; HUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; RHEUMATOID ARTHRITIS; SPONDYLOARTHROPATHY; SYSTEMIC LUPUS ERYTHEMATOSUS; SYSTEMIC SCLEROSIS;

CONNECTIVE TISSUE DISEASES; GENETIC PREDISPOSITION TO DISEASE; HLA ANTIGENS; HUMANS;

EID: 0032708264     PISSN: 10408711     EISSN: None     Source Type: Journal    
DOI: 10.1097/00002281-199909000-00012     Document Type: Review

References (78)

1. Harley JB, Moser KL, Gaffney PM, Behrens TW: The genetics of human systemic lupus erythematosus. Curr Opinon Rheum 1998, 10:690-696. A comprehensive review of association studies and linkage analyses in systemic lupus erythematosus. There is an excellent discussion of two large linkage studies and potential candidate genes in SLE.
2. Tsao B.P. Genetic susceptibility to lupus nephritis. Lupus 1998, 1:585-590. A review detailing the genetic contribution in human SLE and lupus nephritis. There is a discussion of the possible role of complement and Fcγ receptors in lupus nephritis. Also included is a detailed report of the linkage analyses of families of 52 SLE-affected sibpairs localizing a susceptibility gene to chromosome 1.
3. Lander ES, Schork NJ: Genetic dissection of complex traits. Science 1994, 265:2037-2048.
4. Stastny P: Mixed lymphocyte cultures in rheumatoid arthritis. J Clin Invest 1976, 57:1148-1157.
5. Gregersen PK: Genetic analysis of rheumatic disease. In Textbook of Rheumatology, 5th ed, vol 1. Edited by Kelley WN, Harris ED, Jr, Ruddy S, Sledge CB. Philadelphia: W.B. Saunders; 1997:209-227.
6. Grumet FC, Conkell A, Bodmer JC, Bodmer WF, McDevitt HO: Histocompatibility (HLA) antigens associated with systemic lupus erythematosus. N Engl J Med 1971, 285:193-196.
7. Arnett FC: The genetics of human lupus. In Dubois' Lupus Erythematosus, 5th ed. Edited by Wallace DJ, Hahn BH. Baltimore: Wilkins and Wilkins; 1997:77-117.
8. Schur PH: Genetics of systemic lupus erythematosus. Lupus 1995, 4:425-427.
9. Reichlin M, Harley JB, Lockshin MD: Serologic studies of monozygotic twins with SLE. Arthritis Rheum 1992, 35:457-464.
10. Miyagawa S, Shinohara K, Nakajima M, Kidoguchi K, Fujita T, Fukumoto T, Yoshioka A, Dohi K, Shirai T: Polymorphisms of HLA class II genes and autoimmune responses to Ro/SS-A-La/SS-B among Japanese subjects. Arthritis Rheum 1998, 41:927-934. DOB1-06 and DOB1-03 are associated with anti-Ro/SS-A and anti-La/SS-B.
11. Harley JB, Sestak AS, Willis LG, Fu SM, Hansen JA, Reichlin M: A model for disease heterogeneity in systemic lupus erythematosus: Relationships between histocompatibility antigens, autoantibodies and lymphopenia or renal disease. Arthritis Rheum 1989, 32:826-836.
12. Granados J, Vargas-Alarcon G, Drenkard C, Andrade F, Melin-Aldana H, Alcocer-Varela J, Alarcon-Segovia D: Relationship of anticardiolipin antibodies and anti-phospholipid syndrome to HLA-DR7 in Mexican patients with systemic lupus erythematosus. Lupus 1997, 6:57-62.
13. Nepom GT, Byers P, Seyfried C, Healey LA, Wilski KR, Stage D, Nepom BS: HLA genes associated with rheumatoid arthritis: identification of susceptibility alleles using specific oligonucleotide probes. Arthritis Rheum 1989, 32:15-21.
14. Wordsworth BP, Lanchbury JSS, Sakkas Li, Welsh Ki, Panayi GS, Bell JI: HLA-DR4 subtype frequency in rheumatoid arthritis indicate that DRB1 is the major susceptibility locus within the human leucocyte antigen class II region. Proc Natl Acad Sci USA 1989, 86:10049-10053.
15. Gregersen PK, Silver J, Winchester RJ: The shared epitope hypothesis: an approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis. Arthritis Rheum 1987, 30:1205-1213.
16. Firestein GS: Etiology and pathogenesis of rheumatoid arthritis. In Textbook of Rheumatology, 5th ed, vol 1. Edited by Kelley WN, Harris ED, Jr, Ruddy S, Sledge CB. Philadelphia: W.B. Saunders; 1997:851-897.
17. McDonagh JE, Dunn A, Ollier WE, Walker DJ: Compound heterozygosity for the shared epitope and the risk and severity of rheumatoid arthritis In extended pedigrees. Br J Rheumatol 1997, 36:322-327.
18. Meyer JM, Han J, Singh R, Moxley G: Sex influences on the penetrance of HLA shared-epitope genotypes for rheumatoid arthritis. Am J Hum Genet 1996, 58:371-383.
19. Czerwony G, Alten R, Gromnica-lhle E, Hagemann D, Reuter U, Sorenson H, Muller B: Differential surface expression of HLA-DRB1 and HLA-DRB4 among peripheral blood cells of DR4 positive individuals. Hum Immunol 1999 60:1-9. This study suggests that the surface expression of HLA-DRB1 and DRB4 may be genetically controlled and modulated with treatment.
20. Reveille JD: The genetic contribution 10 the pathogenesis of rheumatoid arthritis. Cur Opinion Rheumatol 1998, 10:187-200. A comprehensive review of HLA associations in rheumatoid arthritis. There is a discussion of the association of HLA-DR4 and other -DRB1 alleles excoding the shared (or rheumatoid) epitope. There is also a discussion on the presence and gene dosage of HLA-DRB1 alleles and their affect on disease course and outcome.
21. Perdriger A, Chales G, Semana G, Guggenbuhl P, Meyer O, Quillivic F, Pawlotsky Y: Role of HLA-DR-DR and DR-DQ associations in the expression of extra-articular manifestations and rheumatoid factor in rheumatoid arthritis. J Rheumatol 1997, 24:1272-1276.
22. Eberhardt K, Fex E, Johnson U, Wollheim FA: Associations of HLA-DRB and -DOB genes with two and five year outcome in rheumatoid arthritis. Ann Rheum Dis 1996, 55:34-39.
23. Weyand CM, Xie C, Goronzy JJ: Homozygosity for the HLA-DRB1 alelle selects for extra-articular manifestations in rheumatoid arthritis. J Clin Invest 1992, 89:2033-2039.
24. Salvarani C, Macchioni PL, Mantovani W, Bragliani M, Collina E, Cremonesi T, Battistel B, Boiardi L: HLA-DRB1 alleles associated with rheumatoid arthritis in Northern Italy: correlation with disease severity. Br J Rheumatol 1998, 37:165-169. In an Italian study, patients encoding the SE especially by an HLA-DR4 allele had more eroded joint and a higher disease activity level. However, these findings were also associated with the HLA-DRB1 *O4 alleles alone.
25. Teller K, Budhai L, Zhang M, Haramati N, Keiser HD, Davidson A: HLADRB1 and DQB typing of Hispanic American patients with rheumatoid arthritis: the 'shared epitope' hypothesis may not apply. J Rheumatol 1996, 23:1363-1368.
26. Saudan-Kister A, Gabay C, Tiercy JM, Mermillod B, Guerne PA, Vischer TL: Adult seronegative arthritis with antinuclear antibodies: a distinct group of patients with a different immunogenetic pattern from seropositive rheumatoid arthritis and a good outcome. Rev Rheum 1996, 63:313-320.
27. Singal DP, Li J, Ye M, Lei K: D6S273 microsatellite polymorphism and suseptibility to rheumatoid arthritis. Tissue Antigens 1998, 52:353-358. This study suggests that two regions of the MHC, BRB1 and D6S273, located between HSP 70 and Bat2 genes, contribute to susceptibility to RA.
28. Moroldo MB, Tague BL, Shear ES, Glass DN, Giannini EH: juvenile rheumatoid arthritis in affected sibpairs. Arthritis Rheum 1997, 40:1962-1966.
29. Moroldo MB, Donnelly P, Saunders J, Glass DN, Giannini EH: Transmission disequalibrium as a test of linkage and association between HLA alleles and pauciarticular-onset juvenile rheumatoid arthritis. Arthritis Rheum 1998, 41:1620-1624. Using TDT, 101 families with a child affected by pauciarticular JRA were analysed and HLA class I alleles A2, B27, and B35 and class II alleles DR5 and DR8 were seen in higher than expected frequency in JRA.
30. Albert ED, Scholz S: Juvenile arthritis: genetic update. Baillieres Clin Rheumatol 1998, 12:209-218. HLA associations with pauciarticular JRA are reviewed and associations with outcome discussed.
31. Begovich AB, Steiner LL, Klitz W, McCurdy DK: HLA-DP/DR interactions in a family study of the genetics of susceptibility to pauciarticular juvenile rheumatoid arthritis. Euro J Immunogen 1997, 24(suppl):54.
32. Scholz S, Albert ED: Immunogenetic aspects of juvenile chronic arthritis. Clin Exp Rheumatol 1993, 11(suppl):S37.
33. Paul C, Schoenwald U, Truckenbrodt H, Bettinotti MP, Brunnler G, Keller E, Nevinny-Stickel C, Yao Z, Albert ED: HLA-DP/DR interaction in early onset pauciarticular juvenile chronic arthritis. Immunogentics 1993, 37:442-448.
34. Vehe RK, Begovich AB, Nepom BS: HLA susceptibility genes in rheumatoid factor positive juvenile rheumatoid arthritis. J Rheumatol 1990, 17(suppl):11.
35. Oen K, El-Gabalawy HS, Canvin JM, Hitchon C, Chalmers IM, Schroeder M, Jacobson K, Reed M, Wood S, Cheang M: HLA associations of seropositive rheumatoid arthritis in a Cree abd Ojibway population. J Rheumatol 1998, 25:2319-2323. Twenty-three Ojibway and Cree patients with RA or JRA who were RF positive showed increased frequencies of the RA shared epitope and in polyarticular JRA, increase of DRB1*0901.
36. Cerna M, Vavrincova P, Havelka S: HLA and juvenile rheumatoid arthritis. Acta Univ Carol 1994, 40:69-73.
37. Cassidy JT: Juvenile Rheumatoid Arthritis. In Textbook of Rheumatology, 5th ed, vol 2. Edited by Kelley WN, Harris ED, Jr, Ruddy S, Sledge CB. Philadelphia: W.B. Saunders; 1997:1207-1224.
38. Wordsworth P: Genes in the spondyloarthropathies. Rheum Dis Clinic North Am 1998, 24:845-63. A complete review of the HLA associations with the spondyloarthropathies and discussion of linkage analyses.
39. Ploski R, Flato B, Vinje O, Maksymowych W, Forre O, Thorsby E: Association to HLA-DRB1 *08, HLA-DPB1*0301 and homozygosity for and HLA-linked proteosome gene in juvenile ankylosing spondylitits. Hum Immunol 1995, 44:88-96.
40. Wortmann RL: Inflammatory diseases of muscle and other myopathies. In Textbook of Rheumatology, 5th ed, vol 2. Edited by Kelley WN, Harris ED, Jr, Ruddy S, Sledge CB. Philadelphia: W.B. Saunders; 1997:1177-1206.
41. Reed AM, Pachman LM, Ober C: Molecular genetic studies of major histocompatibility genes in children with juvenile dermatomyositis: increased risk associated with HLA-DQA1*0501. Hum Immunol 1991, 32:235-242.
42. Reed AM, Pachman LM, Hayford J, Ober C: Immunogenetic studies in families of patients with juvenile dermatomyositis. J Rheum 1998, 25:1000-1002. The association of JDMS with HLA-DQA1*0501 was confirmed in a family study using TDT.
43. Fanning GC, Welsh KI, Bunn C, DuBois R, Black CM. HLA associations in three mutually exclusive autoantibody subgroups in UK systemic sclerosis patients. Br J Rheum 1998, 37:201 -207. Analyzing association studies in 130 UK SSc patients DRB1*11 was associated with anti-topoisomerase antibody.
44. Venneker GT, van den Hoogen FH, van Meegen M, de Kok-Nazaruk M, Hulsmans RF, Boerbooms AM, de Waal LP, Bos JD, Asghar SS: Molecular heterogeneity of second and forth components of complement and their genes in systemic sclerosis and association of HLA alleles A1, B8, and DR3 with limited DR5 with diffuse systemic sclerosis. Exp Clin Immunogenet 1998, 15:90-99. In a study from the Netherlands, DR5 was associated with SSc. HLA alleles A1, B8 and DR3 were associated with a more limited systemic sclerosis.
45. Avila JJ, Lympany PA, Pantelidis P, Welsh KI, Black CM, du Bois RM: Fibronectin gene polymorphisms associated with fibrosing alvelolitis in systemic sclerosis. Am J Respir Cell Mol Biol 1999, 20:106-112. The association of SSc with the fibronectin gene polymorphisms is reported and significance discussed.
46. Koumantaki Y, Stavropoulos C, Spyropoulou M, Messini H, Papademetropoulos M, Giziaki E, Macromichelakis N, Palimeris G, Kaklamanis P, Kaklamani E: HLA-B*5101 in Greek patients with Behcet's diseases. Hum Immunol 1998, 59:250-255. An association between Behçet's and HLA-B5101 was noted in Greek patients. This may predispose to the development of the disease at a younger age.
47. Marcus-Bagley, D, Alper CA: Methods for allotyping complement protein. In Manual of Clinical Laboratory Immunology, 4th ed. Edited by Rose NR, Conway de Mecario E, Fahey JL, Friedman H, and Penn GM. American Society for Microbiology, 1992:124-141.
48. Carroll MC: The lupus paradox. Nat Genet 1998, 19:3-4.
49. Korb LC, Ahearn JM: C1q binds directly and specifically to surface blebs of apoptotic human keratinocytes: complement deficiency and systemic lupus erythematosus revisited. J Immunol 1997, 158:4525-4528.
50. Botto K: Homozygous Clq deficiency causes glomerulonephritis associated with multiple apoptotic bodies [letter]. Nat Genet 1998, 19:56-59. The C1q deficient mouse is described and the manner in which C1q eliminates self antigens and protects from abnormal recognition of self is discussed.
51. Cutler AJ, Botto M, van Essen D, Rivi R, Davies KA, Gray D, Ivalport MJ: T cell-dependent immune response in Clq-deficient mice: defective interferon γ production by antigen-specific T cells. J Exp Med 1998, 187:1789-1797. C1q deficient mice have demonstrated decreased ability to recognized self from non-self and develop autoantibodies and glomeroulnephritis.
52. Slingsby JH, Norsworthy P, Pearce G, Vaishnaw AK, Issler H, Morley BJ, Walport MJ: Homozygous hereditary Clq deficiency and systemic lupus erythematosus. Arthritis Rheum 1996, 39:663-670.
53. Reid KBM: Deficiency of the first component of human complement. In Immunodeficiencies. Edited by Rosen FS, Seligman M: Philadelphia:Harwood Academic Publishers; 1993:283-293.
54. Walport MJ: Complement deficiency and disease. Brit J Rheumatol 1993, 32:269-273.
55. Provost TT, Arnett FC, Reichlin M: Homozygous C2 deficiency, lupus erythematosus and anti-Ro(SS-A) antibodies. Arthritis Rheum 1983, 26:1279-1282.
56. Fielder AHL, Walport MJ, Batchelor JR, Rynes RI, Black CM, Dodi IA, Hughes GRV: Family study of the major histocompatibility complex in patients with systemic lupus erythematosus: importance of null alleles of C4A and C4B in determining disease susceptibility. Brit Med J 1983, 286:425-428.
57. Takeuchi F, Nabeta H, Hong GH, Matsuta K, Tokunaga K, Nakano, K: C4A and C4B null alleles are genetic markers of different types of systemic sclerosis in Japanese patients. Clin Exp Rheumatol 1998, 16:55-60. SLE patients have an increased prevalence of null alleles for C4A. Deficiency of C4A is more strongly associated with SLE than deficiency of C4B.
58. Jarjour W, Reed AM, Gauthier J, Hunt S, Winfield JB: The 8.5-kb Pstl allele of the stress protein gene, Hsp7O-2. An independent risk factor for systemic lupus erythematosus in African-Americans? Hum Immunol 1996, 45:59-63.
59. Brennan P, Hajeer A, Ong KR, Worthington J, John S, Thomson W, Silman A, Ollier B: Alleleic markers close to prolactin are associated with HLA-DRBI susceptibility alleles among women with rheumatoid arthritis and systemic lupus erythematosus. Arthritis Rheum 1997, 40:1383-1386.
60. Rudwaleit M, Tikly M, Khamashta M, Gibson K, Klinke J, Hughes G, Wordsworth P: Interethnic differences in the association of tumor necrosis factor promoter polymorphisms with systemic lupus erythematosus. J Rheumatol 1996, 23:1725-1728.
61. Tezcan I, Berkel AI, Ersoy F, Sanal O, Kanra G: Fcγ receptor allotypes in children with bacterial meningitis. Turkish J Ped 1998, 40:533-538.
62. Duits AJ, Bootsma H, Derksen RHWM, Spronk PE, Kater L, Kallenberg CGM, Capel PJA, Westerdaal NAC, Spierenburg GTH, Gmelig-Meyling FIU, van de Winkel JGJ: Skewed distribution of IgG Fc receptor IIa (CD32) polymorphism is associated with renal disease in systemic lupus erythematosus patients. Arthritis Rheum 1995, 39:1832-1836.
63. Salmon JE, Millard S, Schachter L. FcγRIIA alleles are heritable risk factors for lupus nephritis in African-Americans. J Clin Invest 1996 97:1348-1354.
64. Botto K Theodoridis E, Thompson EM, Beynon HL, Briggs D, Isenberg DA, Walport MJ, Davies KA: FcγRIIa polymorphism in systemic lupus erythematosus (SLE): no association with disease. Clin Exp Immunol 1996, 104:264-268.
65. Manger K, van de Winkel JG, Kalden JR, Manger B, Wentz B, Weserdaal NA, Wassmuth R, Geiger A, Rascu A, Spriewald BM, Repp R: Fc gamma receptor IIa polymorphism I Caucasian patients with systemic lupus erythematosus: association with clinical symptoms. Arthritis Rheum 1998, 41:1181-1182.
66. Yee AMF, Ng SC, Sobel RE, Salmon JE: FcγRIIA polymorphism as a risk factor for invasive pneumococcal infections in systemic lupus erythematosus. Arthritis Rheum 1997, 40:1180-1182.
67. Wu J, Edberg JC, Redecha PB, Bansal V, Guyre PM, Coleman K, Salmon JE Kimberly RP: A novel polymorphism of FcγRIIIa (CD 16) alters receptor function and predisposes to autoimmune disease. J Clin Invest 1997, 100:1059-1070.
68. Mehrian R, Quismorio FP Jr, Strassmann G, Stimmler MM, Horowitz DA, Kitridou RC, Gauderman WJ, Morrison J, Brautbar C, Jacob CO: Synergistic effect between IL-10 and bcl-2 genotypes in determining susceptibility to systemic lupus erythematosus. Arthritis Rheum 1998, 41:596-602. The genetic control of cytokine IL-10 and bcl-2 is noted and the synergy between the two discussed as regards disease pathogenesis.
69. Thompson SD, Murray KJ, Grom AA, Passo MH, Choi E, Glass DN: Comparative sequence analysis of the human T cell receptor beta chain in juvenile rheumatoid arthritis and juvenile spondyloarthropathies: evidence for antigenic selection of T cells in the synovium. Arthritis Rheum 1998, 41:482-497. Identification of common TCR features in oligoclonal expansions within individual patients and between patients with JRA or a spondyloarthropathy suggest recognition of a common or limited group of antigens.
70. Zhang H, Phang D, Laxer RM, Silverman ED, Pan S, Doherty PJ: Evolution of the T cell receptor beta repertoire from synovial fluid T cells of patients with juvenile onset rheumatoid arthritis. J Rheumatol 1997, 24:1396-1402. Studying the synovial fluid of 3 patients with JRA at 2-year to 3-year intervals, clonally expanded T cells were low and reflected the changing nature of disease over time.
71. Fishman D, Faulds G, Jeffery R, Mohamed-Ali V, Yudkin JS, Humphries S, Woo P: The effect of novel polymorphism in the interleukin-6 (IL-6) levels, and an association with systemic-onset juvenile chronic arthritis. J Clin Invest 1998, 102:1369-1376. As the role of cytokines in inflammation is clarified, the genetic control of cytokine expression is increasingly important. In this paper, polymorphisms of the IL-6 gene are studied in 92 children with systemic onset JRA. A G/C polymorphism at position -174 is noted that has lower level of IL-6 expression with a CC genotype. This genotype is seen less frequently in systemic JRA than it is in the controls.
72. Grenewald J, Halapi E, Wahlstrom J, Giscombe R, Nityanand S, Sanjeevi C, Lefvert AK: T cell expansion with conserved T-cell receptor beta chain motifs in the eperipheral blood of HLA-DRB1*0401 positive patients with necrotizing vasculitis. Blood 1998, 15:3737-3744. A common vasculitis-associated antigen is a possibility since a specific CDR3 motif recognize a specific antigen presented by DR4 molecules.
73. Tsao BP, Cantor R, Grossman JM, Shen N, Teophilov NT, Wallace DJ, Arnett FC, Hartung K, Goldstein R, Kalunian KC, Hahn BH, Rotter JI: PARP alleles within the linked chromosomal region are associated with systemic lupus erythematosus. J Clin Invest 1999, 103:1135-1140.
74. + depletion in type I diabetes. Nature Med 1999, 5:268-270.
75. Burkart V, Wang Z-Q, Radons J, Heller B, Herceg Z, Stingl L, Wagner E, Kolb H: Mice lacking the poly (ADP-ribose) polymerase gene are resistant to pancreatic beta-cell destruction and diabetes development induced by streptozocin. Nature Med 1999, 5:314-319.
76. McCurdy D, Tai L-Q, Frias S, Wang Z: Delayed repair of DNA damage by ionizing radiation in juvenile systemic lupus erythematosus in rheumatoid arthritis. Radiat Res 1997, 147:48-54.
77. Tan FK, Stivers DN, Foster MW, Chakraborty R, Howard RF, Milewicz DM, Arnett FC: Association of microsatellite markers near the fibrillin 1 gene on human chromosome 15q with scleroderma in a Native American population. Arthritis Rheum 1998, 41:1729-1737. Linkage analysis in a Choctaw Indian population identified a potential candidate gene for scleroderma on chromosome 15.
78. Becker KG, Simon RM, Baily-Wilson JE, Freidlin B, Biddison WE, McFarland HF, Trent JM: Clustering of non-major histocompatibility complex susceptibility loci in human autoimmune diseases. Proc Natl Acad Sci USA 1998, 95:9979-9984.