Ethnicity and race and systemic sclerosis: How it affects susceptibility, severity, antibody genetics, and clinical manifestations

Current Rheumatology Reports

Volumn 5, Issue 2, 2003, Pages 160-167

  Reveille, John D ^a  

^a UNIVERSITY OF TEXAS   (United States)

Author keywords

Black Patient; Major Histocompatibility Complex Gene; Rheumatol; Scleroderma; Systemic Sclerosis

Indexed keywords

AUTOANTIBODY;

DISEASE PREDISPOSITION; EPIDEMIOLOGY; ETHNIC GROUP; ETHNOLOGY; GENETIC PREDISPOSITION; GENETICS; HUMAN; RACE; REVIEW; RISK FACTOR; STATISTICS; SYSTEMIC SCLEROSIS;

AUTOANTIBODIES; CONTINENTAL POPULATION GROUPS; DISEASE SUSCEPTIBILITY; EPIDEMIOLOGIC STUDIES; ETHNIC GROUPS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; RISK FACTORS; SCLERODERMA, SYSTEMIC;

EID: 0038044577     PISSN: 15233774     EISSN: 15346307     Source Type: Journal    
DOI: 10.1007/s11926-003-0045-1     Document Type: Article

References (59)

1. Underhill PA, Shen P, Lin AA, et al.: Y chromosome sequence variation and the history of human populations. Nat Genet 2000, 26:358–361. DOI: 10.1038/81685
2. Cooper RS, Freeman VL: Limitations in the use of race in the study of disease causation. J Natl Med Assoc 1999, 91:379–383.
3. Risch N, Burchard E, Ziv E, Tang H: Categorization of humans in biomedical research: genes, race and disease. Genome Biol 2002, 3:2007. DOI: 10.1186/gb-2002-3-7-comment2007
4. Medsger TA Jr., Masi AT: The epidemiology of systemic sclerosis (scleroderma) among male US veterans. J Chronic Dis 1978, 31:73–85. DOI: 10.1016/0021-9681(78)90092-9
5. Michet CJ Jr., McKenna CH, Elveback LR, et al.: Epidemiology of systemic lupus erythematosus and other connective tissue disease in Rochester, Minnesota, 1950 through 1979. Mayo Clin Proc 1985, 60:105–113.
6. Maricq HR, Weinrich MC, Keil JE, LeRoy EC: Prevalence of Raynaud phenomenon in the general population: a preliminary study by questionnaire. J Chronic Dis 1986, 39:423–427. DOI: 10.1016/0021-9681(86)90109-8
7. Steen VD, Oddis CV, Conte CG, et al.: Incidence of systemic sclerosis in Allegheny County, Pennsylvania: a twenty-year study of hospital-diagnosed cases, 1963–1982. Arthritis Rheum 1997, 40:441–445. DOI: 10.1002/art.1780400309
8. Mayes MD, Laing TJ, Gillespie BW, et al.: Prevalence, incidence and survival rates of systemic sclerosis in the Detroit Metropolitan Area. Arthritis Rheum 1996, 39:S150.
9. Silman A, Jannini S, Symmons D, Bacon P: An epidemiologic study of scleroderma in the West Midlands. Br J Rheumatol 1988, 27:286–290. DOI: 10.1093/rheumatology/27.4.286
10. Eason RJ, Tan PL, Gow PJ: Progressive systemic sclerosis in Auckland: a ten year review with emphasis on prognostic features. Aust N Z J Med 1981, 11:657–662.
11. Englert H, Small-McMahon J, Davis K, et al.: Systemic sclerosis prevalence and mortality in Sydney 1974–1988. Aust N Z J Med 1999, 29:42–50.
12. Roberts-Thomson PJ, Jones M, Hakendorf P, et al.: Scleroderma in South Australia: epidemiological observations of possible pathogenic significance. Intern Med J 2001, 31:220–229. DOI: 10.1046/j.1445-5994.2001.00048.x
13. Geirsson AJ, Steinsson K, Guthmundsson S, Sigurthsson V: Systemic sclerosis in Iceland: a nationwide epidemiological study. Ann Rheum Dis 1994, 53:502–505.
14. Arnett FC, Howard RF, Tan F, et al.: Increased prevalence of systemic sclerosis in a Native American tribe in Oklahoma: association with an Amerindian haplotype. Arthritis Rheum 1996, 39:1362–1370. DOI: 10.1002/art.1780390814
15. Tamaki T, Mori S, Takehara K: Epidemiologic study of patients with systemic sclerosis in Tokyo. Arch Dermatol Res 1991, 283:366–371. DOI: 10.1007/BF00371817
16. Reveille JD, Fischbach M, McNearney T, et al.: Systemic sclerosis in 3 US ethnic groups: a comparison of clinical, sociodemographic, serologic, and immunogenetic determinants. Semin Arthritis Rheum 2001, 30:332–346. An important paper. DOI: 10.1053/sarh.2001.20268
17. Laing TJ, Gillespie BW, Toth MB, et al.: Racial differences in scleroderma among women in Michigan. Arthritis Rheum 1997, 40:734–742. DOI: 10.1002/art.1780400421
18. Greidinger EL, Flaherty KT, White B, et al.: African-American race and antibodies to topoisomerase I are associated with increased severity of scleroderma lung disease. Chest 1998, 114:801–807.
19. Tager RE, Tikly M: Clinical and laboratory manifestations of systemic sclerosis (scleroderma) in black South Africans. Rheumatology (Oxford) 1999, 38: 397–400. DOI: 10.1093/rheumatology/38.5.397
20. Krishnamurthy V, Porkodi R, Ramakrishnan S, et al.: Progressive systemic sclerosis in south India. J Assoc Physicians India 1991, 39:254–257.
21. Panicheewa S, Chitrabamrung S, Verasertniyom O, et al.: Diffuse systemic sclerosis and related diseases in Thailand. Clin Rheumatol 1991, 10:124–129. DOI: 10.1007/BF02207649
22. McNeilage LJ, Youngchaiyud U, Whittingham S: Racial differences in antinuclear antibody patterns and clinical manifestations of scleroderma. Arthritis Rheum 1989, 32:54–60. DOI: 10.1002/anr.1780320109
23. Kuwana M, Kaburaki J, Arnett FC, et al.: Influence of ethnic background on clinical and serologic features in patients with systemic sclerosis and anti-DNA topoisomerase I antibody. Arthritis Rheum 1999, 42:465–474. DOI: 10.1002/1529-0131(199904)42:3<465::AID-ANR11>3.0.CO;2-Y
24. Masi AT, D’Angelo WA: Epidemiology of fatal systemic sclerosis (diffuse scleroderma): a 15-year survey in Baltimore. Ann Intern Med 1967, 66:870–883.
25. Walsh SJ, Fenster JR: Geographical clustering of mortality from systemic sclerosis in the Southeastern United States, 1981–1990. J Rheumatol 1997, 24:2348–2352.
26. Nietert PJ, Silverstein MD, Silver RM: Hospital admissions, length of stay, charges, and in-hospital death among patients with systemic sclerosis. J Rheumatol 2001, 28:2031–2037.
27. Steen VD, Conte C, Owens GR, Medsger TA Jr.: Severe restrictive lung disease in systemic sclerosis. Arthritis Rheum 1994, 37:1283–1289. DOI: 10.1002/art.1780370903
28. Vlachoyiannopoulos PG, Dagni UG, Pakas I, et al.: Systemic scleroderma in Greece: low mortality and strong linkage with HLA-DRB1*1104 allele. Ann Rheum Dis 2000, 59:359–367. DOI: 10.1136/ard.59.5.359
29. Altman RD, Medsger TA Jr., Bloch DA, Michel BA: Predictors of survival in systemic sclerosis (scleroderma). Arthritis Rheum 1991, 34:403–413. DOI: 10.1002/art.1780340405
30. Nishioka K, Katayama I, Kondo H, et al.: Epidemiological analysis of prognosis of 496 Japanese patients with progressive systemic sclerosis (SSc). Scleroderma Research Committee Japan. J Dermatol 1996, 23:677–682.
31. Kuwana M, Kaburaki J, Okano Y, et al.: Clinical and prognostic associations based on serum antinuclear antibodies in Japanese patients with systemic sclerosis. Arthritis Rheum 1994, 37:75–83. DOI: 10.1002/art.1780370111
32. Reveille JD, Solomon DH, the American College of Rheumatology Ad Hoc Committee on Immunological Testing Guidelines: Evidence-based guidelines for the use of immunological laboratory tests: anti-centromere, Scl-70 and nucleolar antibodies. Arthritis Rheum 2003, In press. A good article.
33. Davis P, Stein M, Ley H, Johnston C: Serological profiles in the connective tissue diseases in Zimbabwean patients. Ann Rheum Dis 1989, 48:73–76.
34. Pudifin DJ, Dinnematin H, Duursma J: Antinuclear antibodies in systemic sclerosis: clinical and ethnic associations. S Afr Med J 1991, 80:438–440.
35. Reveille JD, Durban E, Goldstein R, et al.: Racial differences in the frequencies of scleroderma-related autoantibodies. Arthritis Rheum 1992, 35:216–218. DOI: 10.1002/art.1780350215
36. Kuwana M, Okano Y, Kaburaki J, et al.: Racial differences in the distribution of systemic sclerosis-related serum antinuclear antibodies. Arthritis Rheum 1994, 37:902–906. DOI: 10.1002/art.1780370619
37. Arnett FC, Hamilton RG, Roebber MG, et al.: Increased frequency of Sm and RNP antibodies in American blacks compared to whites with systemic lupus erythematosus. J Rheumatol 1988, 15:1773–1776.
38. Arnett FC, Reveille JD, Goldstein R, et al.: Autoantibodies to fibrillarin in systemic sclerosis (scleroderma): an immunogenetic, serologic, and clinical analysis. Arthritis Rheum 1996, 39:1151–1160. DOI: 10.1002/art.1780390712
39. Tormey VJ, Bunn CC, Denton CP, Black CM: Anti-fibrillarin antibodies in systemic sclerosis. Rheumatology (Oxford) 2001, 40:1157–1162. DOI: 10.1093/rheumatology/40.10.1157
40. Tan FK, Arnett FC, Reveille JD, et al.: Autoantibodies to fibrillin 1 in systemic sclerosis: ethnic differences in antigen recognition and lack of correlation with specific clinical features or HLA alleles. Arthritis Rheum 2000, 43:2464–2471. DOI: 10.1002/1529-0131(200011)43:11<2464::AID-ANR13>3.0.CO;2-F
41. Morel PA, Chang HJ, Wilson JW, et al.: HLA and ethnic associations among systemic sclerosis patients with anticentromere antibodies. Hum Immunol 1995, 42:35–42. DOI: 10.1016/0198-8859(94)00078-5
42. Vargas-Alarcon G, Granados J, Ibanez de Kasep G, et al.: Association of HLA-DR5 (DR11) with systemic sclerosis (scleroderma) in Mexican patients. Clin Exp Rheumatol 1995, 13:11–16.
43. Briggs DC, Vaughan RW, Welsh KI, et al.: A molecular and serologic analysis of the major histocompatibility complex and complement component C4 in systemic sclerosis. Arthritis Rheum 1993, 36:943–954. DOI: 10.1002/art.1780360711
44. Tan FK, Stivers DN, Arnett FC, et al.: HLA haplotypes and microsatellite polymorphisms in and around the major histocompatibility complex region in a Native American population with a high prevalence of scleroderma (systemic sclerosis). Tissue Antigens 1999, 53:74–80. DOI: 10.1034/j.1399-0039.1999.530108.x
45. Akimoto S, Abe M, Ishikawa O: HLA-DRB1 and DQB1 genes in Japanese patients with systemic sclerosis. J Rheumatol 2000, 27:2940–2942.
46. Kang SH, Park MH, Song EY, et al.: Association of HLA class II genes with systemic sclerosis in Koreans. J Rheumatol 2001, 28:1577–1583.
47. Reveille JD: Molecular genetics of systemic sclerosis. Curr Opin Rheumatol 1995, 7:522–528. DOI: 10.1097/00002281-199511000-00010
48. Kuwana M, Inoko H, Kameda H, et al.: Association of human leukocyte antigen class II genes with autoantibody profiles, but not with disease susceptibility in Japanese patients with systemic sclerosis. Intern Med 1999, 38: 336–344.
49. Kuwana M, Kaburaki J, Okano Y, et al.: The HLA-DR and DQ genes control the autoimmune response to DNA topoisomerase I in systemic sclerosis (scleroderma). J Clin Invest 1993, 92:1296–1301. DOI: 10.1172/JCI116703
50. Pandey JP, Takeuchi F: TNF-alpha and TNF-beta gene polymorphisms in systemic sclerosis. Hum Immunol 1999, 60:1128–1130. DOI: 10.1016/S0198-8859(99)00105-6
51. Takeuchi F, Nabeta H, Fussel M, et al.: Association of the TNFa13 microsatellite with systemic sclerosis in Japanese patients. Ann Rheum Dis 2000, 59:293–296. DOI: 10.1136/ard.59.4.293
52. Takeuchi F, Kuwata S, Nakano K, et al.: Association of TAP1 and TAP2 with systemic sclerosis in Japanese. Clin Exp Rheumatol 1996, 14:513–521.
53. Wallis DD, Tan FK, Kielty CM, et al.: Abnormalities in fibrillin 1-containing microfibrils in dermal fibroblast cultures from patients with systemic sclerosis (scleroderma). Arthritis Rheum 2001, 44:1855–1864. DOI: 10.1002/1529-0131(200108)44:8<1855::AID-ART324>3.0.CO;2-Q
54. Siracusa LD, McGrath R, Ma Q, et al.: A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation. Genome Res 1996, 6:300–313. DOI: 10.1101/gr.6.4.300
55. Tan FK, Stivers DN, Foster MW, et al.: 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. DOI: 10.1002/1529-0131(199810)41:10<1729::AID-ART5>3.0.CO;2-8
56. Tan FK, Wang N, Kuwana M, et al.: Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations. Arthritis Rheum 2001, 44:893–901. DOI: 10.1002/1529-0131(200104)44:4<893::AID-ANR146>3.0.CO;2-3
57. Zhou X, Tan FK, Reveille JD, et al.: SPARC is over-expressed in dermal fibroblasts and shows genetic association with scleroderma (systemic sclerosis). Arthritis Rheum 2002, In press.
58. Mayes MD, Reveille JD: Epidemiology, demographics, and genetics of systemic sclerosis. In Systemic Sclerosis. Edited by Furst DE, Clements PJ. Philadelphia: Lippincott, Williams & Wilkins; 2003: In press.
59. Harvey G, Black C, Maddison P, McHugh N: Characterization of antinucleolar antibody reactivity in patients with systemic sclerosis and their relatives. J Rheumatol 1997, 24:477–484.