Juvenile rheumatoid arthritis as a complex genetic trait

Arthritis and Rheumatism

Volumn 42, Issue 11, 1999, Pages 2261-2268

  Glass, David N ^a,b   Giannini, Edward H ^a  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FAMILIAL DISEASE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC RISK; JUVENILE RHEUMATOID ARTHRITIS; PRIORITY JOURNAL; REVIEW;

ARTHRITIS, JUVENILE RHEUMATOID; HUMANS; MAJOR HISTOCOMPATIBILITY COMPLEX; POLYMORPHISM, GENETIC; SEASONS; SEX CHARACTERISTICS;

EID: 0033504643     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/1529-0131(199911)42:11<2261::AID-ANR1>3.0.CO;2-P     Document Type: Review

References (78)

1. Cassidy JT, Petty RE, editors. Textbook of pediatric rheumatology. New York: WB Saunders; 1995.
2. Thompson SD, Murray KJ, Grom AA, Passo MH, Choi E, Glass DN. Comparative sequence analysis of the human T cell receptor β chain in juvenile rheumatoid arthritis and juvenile spondylarthropathies: evidence for antigenic selection of T cells in the synovium. Arthritis Rheum 1998;41:482-97.
3. Oen KG, Cheang M. Epidemiology of chronic arthritis in childhood. Semin Arthritis Rheum 1996;26:575-91.
4. Graham TB, Glass DN. Juvenile rheumatoid arthritis: ethnic differences in diagnostic types. J Rheumatol 1997;24:1677-9.
5. Beeson PB. Age and sex associations of 40 autoimmune diseases. Am J Med 1994;96:457-62.
6. Van Kerckhove C, Balakrishnan K, Levinson JE, Larson MG, Glass DN. HLA and altered sex ratio in JRA sibships. Hum Immunol 1988;22:227-33.
7. Lindsley CB. Seasonal variation in systemic onset juvenile rheumatoid arthritis [letter]. Arthritis Rheum 1987;30:838-9.
8. Pritchard MH, Matthews N, Munro J. Antibodies to influenza A in a cluster of children with juvenile chronic arthritis. Br J Rheumatol 1998;27:176-80.
9. Baum J, Fink C. Juvenile rheumatoid arthritis in monozygotic twins: a case report and review of the literature. Arthritis Rheum 1968;11:33-6.
10. Rosenberg AM, Petty RE. Similar patterns of juvenile rheumatoid arthritis within families. Arthritis Rheum 1980;23:951-3.
11. Clemens LE, Albert E, Ansell BM. Sibling pairs affected by chronic arthritis of childhood: evidence for a genetic predisposition. J Rheumatol 1985;12:108-13.
12. Moroldo MB, Tague BL, Shear ES, Glass DN, Giannini EH. Juvenile rheumatoid arthritis in affected sibpairs. Arthritis Rheum 1997;40:1962-6.
13. Rossen RD, Brewer EJ, Sharp RM, Ott J, Templeton JW. Familial rheumatoid arthritis; linkage of HLA to disease susceptibility locus in four families where proband presented with juvenile rheumatoid arthritis. J Clin Invest 1980;65:629-42.
14. Rudolf MC, Genel M, Tamborlane WV Jr, Dwyer JM. Juvenile rheumatoid arthritis in children with diabetes mellitus. J Pediatr 1981;99:519-24.
15. Firooz A, Mazhar A, Ahmed AR. Prevalence of autoimmune diseases in the family members of patients with pemphigus vulgaris. J Am Acad Dermatol 1994;31:434-7.
16. Risch N. Linkage strategies for genetically complex traits. I. Multilocus models. Am J Hum Genet 1990;46:222-8.
17. Risch N. Linkage strategies for genetically complex traits. II. The power of affected relative pairs. Am J Hum Genet 1995;57:911-9.
18. Seldin MF, Amos CI, Ward R, Gregersen PK. The genetics revolution and the assault on rheumatoid arthritis. Arthritis Rheum 1999;42:1071-9.
19. Førre Ø, Dobloug JH, Høyeraal HM, Thorsby E. HLA antigens in juvenile arthritis: genetic basis for the different subtypes. Arthritis Rheum 1983;26:35-8.
20. Fernandez-Viña MA, Fink CW, Stastny P. HLA antigens in juvenile arthritis: pauciarticular and polyarticular juvenile arthritis are immunogenetically distinct. Arthritis Rheum 1990;33:1787-94.
21. Nepom B. The immunogenetics of juvenile rheumatoid arthritis. Rheum Dis Clin North Am 1993;17:825-42.
22. Haas JP, Nevinny-Stickel C, Schoenwald U, Truckenbrodt H, Suschke J, Albert E. Susceptible and protective major histocompatibility complex class II alleles in early-onset pauciarticular juvenile chronic arthritis. Hum Immunol 1994;41:225-33.
23. Delnocencio J, Giannini EH, Glass DN. Can genetic markers contribute to the classification of JRA? J Rheumatol 1993;20: 12-8.
24. Donn RP, Ollier WER. Juvenile chronic arthritis - a time for change? Eur J Immunogenet 1996;23:245-60.
25. Rachelefsky GS, Terasaki PI, Katz R. Increased prevalence of W27 in juvenile rheumatoid arthritis. N Engl J Med 1974;290: 892-3.
26. Petty RE, Southwood TR, Baum J, Bhettay E, Glass DN, Manners P, et al. Revision of the proposed classification criteria for juvenile idiopathic arthritis: Durban, 1997. J Rheumatol 1998;25:1991-4.
27. Nepom BS, Nepom GT, Mickelson E, Schaller JG, Antonelli P, Hausen JA. Specific HLA-DR4-associated histocompatibility molecules characterize patients with seropositive juvenile rheumatoid arthritis. J Clin Invest 1984;74:287-91.
28. Nepom BS, Glass DN. Juvenile rheumatoid arthritis and HLA: report of the Park City III workshop. J Rheumatol 1992;19 Suppl 33:70-4.
29. Van Kerckhove C, Luyrink L, Elma MS, Maksymowych WP, Levinson JE, Larson MG, et al. HLA-DR/DQ interaction in children with juvenile rheumatoid arthritis. Immunogenetics 1990; 32:364-8.
30. Paul C, Schoenwald U, Truckenbrodt H, Bettinotti MP, Brünnler G, Keller E, et al. HLA-DP/DR interaction in early onset pauciarticular juvenile chronic arthritis. Immunogenetics 1993;37: 442-8.
31. Ploski R, McDowell TL, Symons JA, Flato B, Duff GW, Thorsby E, et al. Interaction between HLA-DR and HLA-DP, and between HLA and interleukin 1a in juvenile rheumatoid arthritis indicates heterogeneity of pathogenic mechanisms of the disease. Hum Immunol 1995;42:343-7.
32. Paul C, Yao Z, Nevinny-Stickel C, Keller E, Schoenwald U, Truckenbrodt H, et al. Immunogenetics of juvenile chronic arthritis. I. HLA interaction between A2, DR5/8-DR/DQ, and DPB1*0201 is a general feature of all subsets of early onset pauciarticular juvenile chronic arthritis. II. DPB1 polymorphism plays a role in systemic juvenile chronic arthritis. Tissue Antigens 1995;45:280-3.
33. Hall PJ, Burman SJ, Laurent MR, Briggs DC, Venning HE, Leak AM, et al. Genetic susceptibility to early onset pauciarticular juvenile chronic arthritis: a study of HLA and complement markers in 158 British patients. Ann Rheum Dis 1986;45:464-74.
34. Moroldo MB, Donnelly P, Prahalad S, Passo MH, Giannini EH, et al. Age-specific effects of juvenile rheumatoid arthritis-associated HLA alleles. Arthritis Rheum 1999;42:1843-53.
35. Donn RP, Thomson W, Pepper L, Carthy D, Farhan A, Ryder C, et al. Antinuclear antibodies in early onset pauciarticular juvenile chronic arthritis (JCA) are associated with HLA-DQB1*0603: a possible JCA associated human leukocyte antigen haplotype. Br J Rheumatol 1995;34:461-5.
36. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. Hemochromatosis and HLA-H: definite! Nat Genet 1996;13:399-408.
37. Gandon G, Jouanolle AM, Chauvel B, Mauvieux V, Le Treut A, Feingold J, et al. Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: implications for mapping the hemochromatosis gene (HFE). Hum Genet 1996;97:103-13.
38. Hastbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 1994;78:1073-87.
39. Haas JP, Andreas A, Rutowski B, Brunner H, Keller E, Hoza J, et al. A model for the role of HLA-DQ molecules in the pathogenesis of juvenile chronic arthritis. Rheumatol Int 1991;11:191-7.
40. Haas JP, Kimura A, Truckenbrodt H, Suschke J, Sasazuki T, Volgger A, et al. Early-onset pauciarticular juvenile chronic arthritis is associated with a mutation in the Y box of the HLA-DQA1 promoter. Tissue Antigens 1995;45:317-21.
41. Adams BS, Tan H, Markovitz DM. Allele-specific DQA1 promoter binding by DEK, a putative autoantigen in juvenile rheumatoid arthritis [abstract]. Arthritis Rheum 1998;41 Suppl 9:S188.
42. Haas JP, Frank C, Haefner R, Späth H, Leipold G, Wassmuth R, et al. Inversion of MHC-class II transcription levels in joints of children with EOPA-JCA [abstract]. Arthritis Rheum 1998;41 Suppl 9:S83.
43. McDowell TL, Symons JA, Ploski R, Førre Ø, Duff GW. A genetic association between juvenile rheumatoid arthritis and a novel interleukin-1α polymorphism. Arthritis Rheum 1995;38:221-8.
44. Maksymowych WP, Gabriel CA, Luyrink L, Melin-Aldana H, Elma M, Giannini EH, et al. Polymorphism in a T cell receptor variable gene is associated with susceptibility to a juvenile rheumatoid arthritis subset. Immunogenetics 1992;35:258-63.
45. Cassidy JT, Petty RE, Sullivan DB. Occurrence of selective IgA deficiency in children with juvenile rheumatoid arthritis. Arthritis Rheum 1977;20:181-3.
46. Crawley E, Kay R, Sillibourne J, Patel P, Hutchinson I, Woo P. Polymorphic haplotypes of the interleukin-10 5′ flanking region determine variable interleukin-10 transcription and are associated with particular phenotypes of juvenile rheumatoid arthritis. Arthritis Rheum 1999;42:1101-8.
47. Woo P, O'Brien J, Robison M, Ansell BM. A genetic marker for systemic amyloidosis in juvenile arthritis. Lancet 1987;2:767-9.
48. Aranaud P, Galbraith RM, Faulk WP, Ansell BM. Increased frequency of the MZ phenotype of alpha-1-protease inhibitor in juvenile chronic polyarthritis. J Clin Invest 1977;60:1442-4.
49. Glass D, Litvin D, Wallace K, Chylack L, Garovoy M, Carpenter CB, et al. Early-onset pauciarticular juvenile rheumatoid arthritis associated with human leukocyte antigen-DRw5 iritis, and antinuclear antibody. J Clin Invest 1980;66:426-9.
50. Epplen C, Rumpf H, Albert E, Haas P, Truckenbrodt H, Epplen JT. Immunoprinting excludes many potential susceptibility genes as predisposing to early onset pauciarticular juvenile chronic arthritis except HLA class II and TNF. Eur J Immunogenet 1995;22:311-22.
51. Shaw M-A, Clayton D, Atkinson SE, Williams H, Miller N, Sibthorpe D, et al. Linkage of rheumatoid arthritis to the candidate gene NRAMP1 on 2q35. J Med Genet 1996;33:672-7.
52. Tsao BP, Cantor RM, Kalunian KC, Chen C-J, 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.
53. John S, Myerscough AM, Marlow A, Hajeer A, Silman A, Ollier W, et al. Linkage of cytokine genes to rheumatoid arthritis: evidence of genetic heterogeneity. Ann Rheum Dis 1998;57:361-5.
54. Cornelis F, Faure S, Martinez M, Prud'Homme J-F, Fritz P, Dib C, et al. New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study. Proc Natl Acad Sci U S A 1998;95:10746-50.
55. Eskdale J, McNicholl J, Wordsworth P, Jonas B, Hulzinga T, Field M, et al. Interleukin-10 microsatellite polymorphisms and IL-10 locus alleles in rheumatoid arthritis susceptibility. Lancet 1998; 352:1282-3.
56. Wordsworth P. Genes in the spondyloarthropathies. Rheum Dis Clin North Am 1998;24:843-62.
57. Sullivan KE, McDonald-McGinn DM, Driscoll DA, Zmijewski CM, Ellaban AS, Reed L, et al. Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (Di-George anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). Arthritis Rheum 1997;40:430-6.
58. Becker KG, Simon RM, Bailey-Wilson JE, Freidlin B, Biddison WE, McFallano HF, et al. Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases. Proc Natl Acad Sci U S A 1998;95:9979-84.
59. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993;52: 506-16.
60. Spielman RS, Ewens WJ. A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test. Am J Hum Genet 1998;62:450-8.
61. Cleves MA, Olson JM, Jacobs KB. Exact transmission-disequilibrium tests with multiallelic markers. Genet Epidemiol 1997;14: 337-47.
62. Moroldo MB, Donnelly P, Saunders J, Glass DN, Giannini EH. Transmission disequilibrium as a test of linkage and association between HLA alleles and pauciarticular-onset juvenile rheumatoid arthritis. Arthritis Rheum 1998;41:1620-4.
63. Lander ES, Schork NJ. Genetic dissection of complex traits. Science 1994;265:2037-48.
64. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996;273:1516-7.
65. Beaudet AL. 1998 ASHG presidential address: making genomic medicine a reality. Am J Hum Genet 1999;64:1-13.
66. Alper CA, Awdeh Z, Yunis EJ. Conserved, extended MHC haplotypes. Exp Clin Immunogenet 1992;9:58-71.
67. Davies JL, Kawaguchi Y, Bennet SI, Copeman JB, Cordell HJ, Pritchard LE, et al. A genome-wide search for human type 1 diabetes susceptibility genes. Nature 1994;371:130-6.
68. Jacob CO, Fronek Z, Lewis GD, Koo M, Hansen JA, McDevitt HO. Heritable major histocompatibility complex class II-associated differences in production of tumor necrosis factor-alpha: relevance to genetic predisposition to systemic lupus erythematosus. Proc Natl Acad Sci U S A 1990;87:1233-7.
69. Thomson G. Mapping disease genes: family-based association studies. Am J Hum Genet 1995;57:487-98.
70. Miller ML, Fraser PA, Jackson JM, Larson MG, Petersen RA, Chylack LT Jr, et al. Inherited predisposition to iridocyclitis with juvenile rheumatoid arthritis selectively among HLA DR5 haplo-types. Proc Natl Acad Sci U S A 1984;81:3539-42.
71. Morton NE, Collins A. Tests and estimates of allelic association in complex inheritance. Proc Natl Acad Sci U S A 1998;95:11389-93.
72. Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-96.
73. Kruglyak L. The use of a genetic map of biallelic markers in linkage studies. Nat Genet 1997;17:21-4.
74. Scott WK, Pericak-Vance MA. Genetic analysis of complex diseases [letter]. Science 1997;275:1327.
75. Pennish E. A closer look at SNPs suggests difficulties. Science 1998;281:1787-9.
76. Fishman D, Faulds G, Jeffery R, Mohamed-Ali V, Yudkin JS, Humphries S, et al. The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis. J Clin Invest 1998;102:1369-76.
77. McDermott M, Kastner DL, Holloman JD, Schmidt-Wolf G, Lundberg AS, Sinha AA, et al. The role of T cell receptor β chain genes in susceptibility to rheumatoid arthritis. Arthritis Rheum 1995;38:91-5.
78. Lonjou C, Collins A, Ajioka RS, Jorde LB, Kushner JP, Morton NE. Allelic association under map error and recombinational heterogeneity: a tale of two sites. Proc Natl Acad Sci U S A 1998;95:11366-70.