Skip to main content
SpringerLink
Log in

Influence of Ethnicity and Sex Bias in Systemic Sclerosis

  • Chapter
  • First Online:
Scleroderma

  • 75 Accesses

Abstract

Systemic sclerosis (SSc) is a complex autoimmune disease, in which fibrosis, vasculopathy and inflammation play pivotal pathogenetic roles. Given the high variability of disease manifestation, organ complications and prognostic outcomes, many factors have been investigated to explain this heterogeneity. This chapter is focused on the role and impact of ethnicity and sex, and how their expression influences SSc manifestations.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 149.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 199.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Reveille JD. Ethnicity and race and systemic sclerosis: how it affects susceptibility, severity, antibody genetics, and clinical manifestations. Curr Rheumatol Rep. 2003;5(2):160–7. https://doi.org/10.1007/s11926-003-0045-1.

    Article  PubMed  Google Scholar 

  2. Gelber AC, Manno RL, Shah AA, Woods A, Le EN, Boin F, et al. Race and association with disease manifestations and mortality in scleroderma: a 20-year experience at the Johns Hopkins scleroderma center and review of the literature. Medicine (Baltimore). 2013;92(4):191–205. https://doi.org/10.1097/MD.0b013e31829be125.

    Article  PubMed  Google Scholar 

  3. Barnes J, Mayes MD. Epidemiology of systemic sclerosis: incidence, prevalence, survival, risk factors, malignancy, and environmental triggers. Curr Opin Rheumatol. 2012;24(2):165–70. https://doi.org/10.1097/BOR.0b013e32834ff2e8.

    Article  PubMed  Google Scholar 

  4. Harley JB, Neas BR. Oklahoma Choctaw and systemic sclerosis: the founder effect and genetic susceptibility. Arthritis Rheum. 1998;41(10):1725–8. https://doi.org/10.1002/1529-0131(199810)41:10<1725::AID-ART4>3.0.CO;2-N.

    Article  CAS  PubMed  Google Scholar 

  5. Arnett FC, Howard RF, Tan F, Moulds JM, Bias WB, Durban E, et al. Increased prevalence of systemic sclerosis in a native American tribe in Oklahoma. Association with an Amerindian HLA haplotype. Arthritis Rheum. 1996;39(8):1362–70. https://doi.org/10.1002/art.1780390814.

    Article  CAS  PubMed  Google Scholar 

  6. Barnabe C, Joseph L, Belisle P, Labrecque J, Edworthy S, Barr SG, et al. Prevalence of systemic lupus erythematosus and systemic sclerosis in the first nations population of Alberta, Canada. Arthritis Care Res (Hoboken). 2012;64(1):138–43. https://doi.org/10.1002/acr.20656.

    Article  PubMed  Google Scholar 

  7. Laing TJ, Gillespie BW, Toth MB, Mayes MD, Gallavan RH Jr, Burns CJ, et al. Racial differences in scleroderma among women in Michigan. Arthritis Rheum. 1997;40(4):734–42. https://doi.org/10.1002/art.1780400421.

    Article  CAS  PubMed  Google Scholar 

  8. Mayes MD, Lacey JV Jr, Beebe-Dimmer J, Gillespie BW, Cooper B, Laing TJ, et al. Prevalence, incidence, survival, and disease characteristics of systemic sclerosis in a large US population. Arthritis Rheum. 2003;48(8):2246–55. https://doi.org/10.1002/art.11073.

    Article  PubMed  Google Scholar 

  9. Adelowo OO, Oguntona S. Scleroderma (systemic sclerosis) among Nigerians. Clin Rheumatol. 2009;28(9):1121–5. https://doi.org/10.1007/s10067-009-1191-2.

    Article  CAS  PubMed  Google Scholar 

  10. Tager RE, Tikly M. Clinical and laboratory manifestations of systemic sclerosis (scleroderma) in black south Africans. Rheumatology (Oxford). 1999;38(5):397–400. https://doi.org/10.1093/rheumatology/38.5.397.

    Article  CAS  PubMed  Google Scholar 

  11. Geirsson AJ, Steinsson K, Guthmundsson S, Sigurthsson V. Systemic sclerosis in Iceland. A nationwide epidemiological study. Ann Rheum Dis. 1994;53(8):502–5. https://doi.org/10.1136/ard.53.8.502.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Silman A, Jannini S, Symmons D, Bacon P. An epidemiological study of scleroderma in the west midlands. Br J Rheumatol. 1988;27(4):286–90. https://doi.org/10.1093/rheumatology/27.4.286.

    Article  CAS  PubMed  Google Scholar 

  13. Allcock RJ, Forrest I, Corris PA, Crook PR, Griffiths ID. A study of the prevalence of systemic sclerosis in Northeast England. Rheumatology (Oxford). 2004;43(5):596–602. https://doi.org/10.1093/rheumatology/keh124.

    Article  CAS  PubMed  Google Scholar 

  14. Kanecki K, Gorynski P, Tarka P, Wierzba W, Tyszko P. Incidence and prevalence of systemic sclerosis (SSc) in Poland—differences between rural and urban regions. Ann Agric Environ Med. 2017;24(2):240–4. https://doi.org/10.5604/12321966.1233570.

    Article  PubMed  Google Scholar 

  15. Alamanos Y, Tsifetaki N, Voulgari PV, Siozos C, Tsamandouraki K, Alexiou GA, et al. Epidemiology of systemic sclerosis in Northwest Greece 1981 to 2002. Semin Arthritis Rheum. 2005;34(5):714–20. https://doi.org/10.1016/j.semarthrit.2004.09.001.

    Article  PubMed  Google Scholar 

  16. Le Guern V, Mahr A, Mouthon L, Jeanneret D, Carzon M, Guillevin L. Prevalence of systemic sclerosis in a French multi-ethnic county. Rheumatology (Oxford). 2004;43(9):1129–37. https://doi.org/10.1093/rheumatology/keh253.

    Article  PubMed  Google Scholar 

  17. Arias-Nunez MC, Llorca J, Vazquez-Rodriguez TR, Gomez-Acebo I, Miranda-Filloy JA, Martin J, et al. Systemic sclerosis in northwestern Spain: a 19-year epidemiologic study. Medicine (Baltimore). 2008;87(5):272–80. https://doi.org/10.1097/MD.0b013e318189372f.

    Article  PubMed  Google Scholar 

  18. Ciaffi J, Morabito MF, Ruscitti P, D’Angelo S, Mancarella L, Brusi V, et al. Incidence, prevalence and mortality of systemic sclerosis in Italy: a nationwide population-based study using administrative health data. Rheumatol Int. 2020;41:129. https://doi.org/10.1007/s00296-020-04720-3.

    Article  PubMed  Google Scholar 

  19. Horimoto AMC, Matos ENN, Costa MRD, Takahashi F, Rezende MC, Kanomata LB, et al. Incidence and prevalence of systemic sclerosis in Campo Grande, State of Mato Grosso do Sul, Brazil. Rev Bras Reumatol Engl Ed. 2017;57(2):107–14. https://doi.org/10.1016/j.rbre.2016.09.005.

    Article  PubMed  Google Scholar 

  20. Rosa JE, Soriano ER, Narvaez-Ponce L, del Cid CC, Imamura PM, Catoggio LJ. Incidence and prevalence of systemic sclerosis in a healthcare plan in Buenos Aires. J Clin Rheumatol. 2011;17(2):59–63. https://doi.org/10.1097/RHU.0b013e31820e7e8d.

    Article  PubMed  Google Scholar 

  21. Tamaki T, Mori S, Takehara K. Epidemiological study of patients with systemic sclerosis in Tokyo. Arch Dermatol Res. 1991;283(6):366–71. https://doi.org/10.1007/BF00371817.

    Article  CAS  PubMed  Google Scholar 

  22. Englert H, Small-McMahon J, Davis K, O’Connor H, Chambers P, Brooks P. Systemic sclerosis prevalence and mortality in Sydney 1974-88. Aust NZ J Med. 1999;29(1):42–50. https://doi.org/10.1111/j.1445-5994.1999.tb01587.x.

    Article  CAS  Google Scholar 

  23. Roberts-Thomson PJ, Jones M, Hakendorf P, Kencana Dharmapatni AA, Walker JG, MacFarlane JG, et al. Scleroderma in South Australia: epidemiological observations of possible pathogenic significance. Intern Med J. 2001;31(4):220–9. https://doi.org/10.1046/j.1445-5994.2001.00048.x.

    Article  CAS  PubMed  Google Scholar 

  24. Roberts-Thomson PJ, Walker JG, Lu TY, Esterman A, Hakendorf P, Smith MD, et al. Scleroderma in South Australia: further epidemiological observations supporting a stochastic explanation. Intern Med J. 2006;36(8):489–97. https://doi.org/10.1111/j.1445-5994.2006.01125.x.

    Article  CAS  PubMed  Google Scholar 

  25. Eason RJ, Tan PL, Gow PJ. Progressive systemic sclerosis in Auckland: a ten year review with emphasis on prognostic features. Aust NZ J Med. 1981;11(6):657–62. https://doi.org/10.1111/j.1445-5994.1981.tb03542.x.

    Article  CAS  Google Scholar 

  26. Abbot S, McWilliams L, Spargo L, de Costa C, Ur-Rehman Z, Proudman S, et al. Scleroderma in Cairns: an epidemiological study. Intern Med J. 2020;50(4):445–52. https://doi.org/10.1111/imj.14376.

    Article  CAS  PubMed  Google Scholar 

  27. Tan FK, Stivers DN, Arnett FC, Chakraborty R, Howard R, Reveille JD. 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(1):74–80. https://doi.org/10.1034/j.1399-0039.1999.530108.x.

    Article  CAS  PubMed  Google Scholar 

  28. Gourh P, Safran SA, Alexander T, Boyden SE, Morgan ND, Shah AA, et al. HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry. Proc Natl Acad Sci U S A. 2020;117(1):552–62. https://doi.org/10.1073/pnas.1906593116.

    Article  CAS  PubMed  Google Scholar 

  29. Morgan ND, Shah AA, Mayes MD, Domsic RT, Medsger TA Jr, Steen VD, et al. Clinical and serological features of systemic sclerosis in a multicenter African American cohort: analysis of the genome research in African American scleroderma patients clinical database. Medicine (Baltimore). 2017;96(51):e8980. https://doi.org/10.1097/MD.0000000000008980.

    Article  PubMed  PubMed Central  Google Scholar 

  30. Gourh P, Remmers EF, Boyden SE, Alexander T, Morgan ND, Shah AA, et al. Brief report: whole-exome sequencing to identify rare variants and gene networks that increase susceptibility to scleroderma in African Americans. Arthritis Rheumatol. 2018;70(10):1654–60. https://doi.org/10.1002/art.40541.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  31. Cockrill T, del Junco DJ, Arnett FC, Assassi S, Tan FK, McNearney T, et al. Separate influences of birth order and gravidity/parity on the development of systemic sclerosis. Arthritis Care Res (Hoboken). 2010;62(3):418–24. https://doi.org/10.1002/acr.20096.

    Article  PubMed  PubMed Central  Google Scholar 

  32. Beretta L, Rueda B, Marchini M, Santaniello A, Simeon CP, Fonollosa V, et al. Analysis of class II human leucocyte antigens in Italian and Spanish systemic sclerosis. Rheumatology (Oxford). 2012;51(1):52–9. https://doi.org/10.1093/rheumatology/ker335.

    Article  CAS  PubMed  Google Scholar 

  33. Kuwana M, Inoko H, Kameda H, Nojima T, Sato S, Nakamura K, 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(4):336–44. https://doi.org/10.2169/internalmedicine.38.336.

    Article  CAS  PubMed  Google Scholar 

  34. Kang SH, Park MH, Song EY, Kang SJ, Lee EB, Song YW, et al. Association of HLA class II genes with systemic sclerosis in Koreans. J Rheumatol. 2001;28(7):1577–83.

    CAS  PubMed  Google Scholar 

  35. Louthrenoo W, Kasitanon N, Wichainun R, Wangkaew S, Sukitawut W, Ohnogi Y, et al. Association of HLA-DRB1*15:02 and DRB5*01:02 allele with the susceptibility to systemic sclerosis in Thai patients. Rheumatol Int. 2013;33(8):2069–77. https://doi.org/10.1007/s00296-013-2686-3.

    Article  CAS  PubMed  Google Scholar 

  36. Rodriguez-Reyna TS, Mercado-Velazquez P, Yu N, Alosco S, Ohashi M, Lebedeva T, et al. HLA class I and II blocks are associated to susceptibility, clinical subtypes and autoantibodies in Mexican systemic sclerosis (SSc) patients. PLoS One. 2015;10(5):e0126727. https://doi.org/10.1371/journal.pone.0126727.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  37. Neefjes J, Jongsma ML, Paul P, Bakke O. Towards a systems understanding of MHC class I and MHC class II antigen presentation. Nat Rev Immunol. 2011;11(12):823–36. https://doi.org/10.1038/nri3084.

    Article  CAS  PubMed  Google Scholar 

  38. Moore DF, Steen VD. Racial disparities in systemic sclerosis. Rheum Dis Clin N Am. 2020;46(4):705–12. https://doi.org/10.1016/j.rdc.2020.07.009.

    Article  Google Scholar 

  39. Greidinger EL, Flaherty KT, White B, Rosen A, Wigley FM, Wise RA. African-American race and antibodies to topoisomerase I are associated with increased severity of scleroderma lung disease. Chest. 1998;114(3):801–7. https://doi.org/10.1378/chest.114.3.801.

    Article  CAS  PubMed  Google Scholar 

  40. Nietert PJ, Mitchell HC, Bolster MB, Shaftman SR, Tilley BC, Silver RM. Racial variation in clinical and immunological manifestations of systemic sclerosis. J Rheumatol. 2006;33(2):263–8.

    PubMed  Google Scholar 

  41. Steen V, Domsic RT, Lucas M, Fertig N, Medsger TA Jr. A clinical and serologic comparison of African American and Caucasian patients with systemic sclerosis. Arthritis Rheum. 2012;64(9):2986–94. https://doi.org/10.1002/art.34482.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  42. Jaeger VK, Tikly M, Xu D, Siegert E, Hachulla E, Airo P, et al. Racial differences in systemic sclerosis disease presentation: a European scleroderma trials and research group study. Rheumatology (Oxford). 2020;59(7):1684–94. https://doi.org/10.1093/rheumatology/kez486.

    Article  PubMed  Google Scholar 

  43. Steelandt A, Benmostefa N, Avouac J, Mouthon L, Allanore Y. Ethnic influence on the phenotype of French patients with systemic sclerosis. Joint Bone Spine. 2020;88:105081. https://doi.org/10.1016/j.jbspin.2020.09.013.

    Article  CAS  PubMed  Google Scholar 

  44. Steen VD. Autoantibodies in systemic sclerosis. Semin Arthritis Rheum. 2005;35(1):35–42. https://doi.org/10.1016/j.semarthrit.2005.03.005.

    Article  CAS  PubMed  Google Scholar 

  45. Pudifin DJ, Dinnematin H, Duursma J. Antinuclear antibodies in systemic sclerosis. Clinical and ethnic associations. S Afr Med J. 1991;80(9):438–40.

    CAS  PubMed  Google Scholar 

  46. Panicheewa S, Chitrabamrung S, Verasertniyom O, Vanichaphantu M, Kraisit SO, Chiewsilp P, et al. Diffuse systemic sclerosis and related diseases in Thailand. Clin Rheumatol. 1991;10(2):124–9. https://doi.org/10.1007/BF02207649.

    Article  CAS  PubMed  Google Scholar 

  47. Davis P, Stein M, Ley H, Johnston C. Serological profiles in the connective tissue diseases in Zimbabwean patients. Ann Rheum Dis. 1989;48(1):73–6. https://doi.org/10.1136/ard.48.1.73.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  48. Reveille JD, Fischbach M, McNearney T, Friedman AW, Aguilar MB, Lisse J, et al. Systemic sclerosis in 3 US ethnic groups: a comparison of clinical, sociodemographic, serologic, and immunogenetic determinants. Semin Arthritis Rheum. 2001;30(5):332–46. https://doi.org/10.1053/sarh.2001.20268.

    Article  CAS  PubMed  Google Scholar 

  49. Reveille JD, Solomon DH, American College of Rheumatology Ad Hoc Committee of Immunologic Testing G. Evidence-based guidelines for the use of immunologic tests: anticentromere, Scl-70, and nucleolar antibodies. Arthritis Rheum. 2003;49(3):399–412. https://doi.org/10.1002/art.11113.

    Article  PubMed  Google Scholar 

  50. Mendes C, Viana VST, Pasoto SG, Leon EP, Bonfa E, Sampaio-Barros PD. Clinical and laboratory features of African-Brazilian patients with systemic sclerosis. Clin Rheumatol. 2020;39(1):9–17. https://doi.org/10.1007/s10067-019-04575-5.

    Article  PubMed  Google Scholar 

  51. Tan FK, Arnett FC, Reveille JD, Ahn C, Antohi S, Sasaki T, 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(11):2464–71. https://doi.org/10.1002/1529-0131(200011)43:11<2464::AID-ANR13>3.0.CO;2-F.

    Article  CAS  PubMed  Google Scholar 

  52. Low AH, Johnson SR, Lee P. Ethnic influence on disease manifestations and autoantibodies in Chinese-descent patients with systemic sclerosis. J Rheumatol. 2009;36(4):787–93. https://doi.org/10.3899/jrheum.080915.

    Article  PubMed  Google Scholar 

  53. Sarada L Nandiwada, Lisa K Peterson, Maureen D Mayes, Troy D Jaskowski, Elisabeth Malmberg, Shervin Assassi, Minoru Satoh, Anne E Tebo. Ethnic Differences in Autoantibody Diversity and Hierarchy: More Clues from a US Cohort of Patients with Systemic Sclerosis. J Rheumatol. 2016;43(10):1816–24. https://doi.org/10.3899/jrheum.160106. PMID: 27481902, Epub 2016 Aug 1.

  54. Freire M, Rivera A, Sopena B, Tolosa Vilella C, Guillen-Del Castillo A, Colunga Arguelles D, et al. Clinical and epidemiological differences between men and women with systemic sclerosis: a study in a Spanish systemic sclerosis cohort and literature review. Clin Exp Rheumatol. 2017;35 Suppl 106(4):89–97.

    Google Scholar 

  55. Al-Sheikh H, Ahmad Z, Johnson SR. Ethnic variations in systemic sclerosis disease manifestations, internal organ involvement, and mortality. J Rheumatol. 2019;46(9):1103–8. https://doi.org/10.3899/jrheum.180042.

    Article  PubMed  Google Scholar 

  56. Bacher A, Mittoo S, Hudson M, Tatibouet S, Canadian Scleroderma Research G, Baron M. Systemic sclerosis in Canada’s north American native population: assessment of clinical and serological manifestations. J Rheumatol. 2013;40(7):1121–6. https://doi.org/10.3899/jrheum.121212.

    Article  PubMed  Google Scholar 

  57. Denton CP, Khanna D. Systemic sclerosis. Lancet. 2017;390(10103):1685–99. https://doi.org/10.1016/S0140-6736(17)30933-9.

    Article  PubMed  Google Scholar 

  58. Poudel DR, Derk CT. Mortality and survival in systemic sclerosis: a review of recent literature. Curr Opin Rheumatol. 2018;30(6):588–93. https://doi.org/10.1097/BOR.0000000000000551.

    Article  PubMed  Google Scholar 

  59. McNearney TA, Reveille JD, Fischbach M, Friedman AW, Lisse JR, Goel N, et al. Pulmonary involvement in systemic sclerosis: associations with genetic, serologic, sociodemographic, and behavioral factors. Arthritis Rheum. 2007;57(2):318–26. https://doi.org/10.1002/art.22532.

    Article  PubMed  Google Scholar 

  60. Moore DF, Kramer E, Eltaraboulsi R, Steen VD. Increased morbidity and mortality of scleroderma in African Americans compared to non-African Americans. Arthritis Care Res (Hoboken). 2019;71(9):1154–63. https://doi.org/10.1002/acr.23861.

    Article  PubMed  Google Scholar 

  61. Mayes MD. Scleroderma epidemiology. Rheum Dis Clin N Am. 2003;29(2):239–54. https://doi.org/10.1016/s0889-857x(03)00022-x.

    Article  Google Scholar 

  62. Krishnan E, Furst DE. Systemic sclerosis mortality in the United States: 1979-1998. Eur J Epidemiol. 2005;20(10):855–61. https://doi.org/10.1007/s10654-005-2210-5.

    Article  PubMed  Google Scholar 

  63. Steen VD, Medsger TA. Changes in causes of death in systemic sclerosis, 1972-2002. Ann Rheum Dis. 2007;66(7):940–4. https://doi.org/10.1136/ard.2006.066068.

    Article  PubMed  PubMed Central  Google Scholar 

  64. Assassi S, Sharif R, Lasky RE, McNearney TA, Estrada YMRM, Draeger H, et al. Predictors of interstitial lung disease in early systemic sclerosis: a prospective longitudinal study of the GENISOS cohort. Arthritis Res Ther. 2010;12(5):R166. https://doi.org/10.1186/ar3125.

    Article  PubMed  PubMed Central  Google Scholar 

  65. Pokeerbux MR, Giovannelli J, Dauchet L, Mouthon L, Agard C, Lega JC, et al. Survival and prognosis factors in systemic sclerosis: data of a French multicenter cohort, systematic review, and meta-analysis of the literature. Arthritis Res Ther. 2019;21(1):86. https://doi.org/10.1186/s13075-019-1867-1.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  66. Kuwana M, Kaburaki J, Arnett FC, Howard RF, Medsger TA Jr, Wright TM. Influence of ethnic background on clinical and serologic features in patients with systemic sclerosis and anti-DNA topoisomerase I antibody. Arthritis Rheum. 1999;42(3):465–74. https://doi.org/10.1002/1529-0131(199904)42:3<465::AID-ANR11>3.0.CO;2-Y.

    Article  CAS  PubMed  Google Scholar 

  67. Mejia Otero C, Assassi S, Hudson M, Mayes MD, Estrada YMR, Pedroza C, et al. Antifibrillarin antibodies are associated with native north American ethnicity and poorer survival in systemic sclerosis. J Rheumatol. 2017;44(6):799–805. https://doi.org/10.3899/jrheum.160574.

    Article  CAS  PubMed  Google Scholar 

  68. Carreira PE, Carmona L, Joven BE, Loza E, Andreu JL, Riemekasten G, et al. Gender differences in early systemic sclerosis patients: a report from the EULAR scleroderma trials and research group (EUSTAR) database. Clin Exp Rheumatol. 2018;36 Suppl 113(4):68–75.

    PubMed  Google Scholar 

  69. Delisle VC, Hudson M, Baron M, Thombs BD. And the Canadian scleroderma research group a. sex and time to diagnosis in systemic sclerosis: an updated analysis of 1,129 patients from the Canadian scleroderma research group registry. Clin Exp Rheumatol. 2014;32(6 Suppl 86):S-10–4.

    Google Scholar 

  70. Elhai M, Avouac J, Walker UA, Matucci-Cerinic M, Riemekasten G, Airò P, et al. A gender gap in primary and secondary heart dysfunctions in systemic sclerosis: a EUSTAR prospective study. Ann Rheum Dis. 2016;75(1):163–9. https://doi.org/10.1136/annrheumdis-2014-206386.

    Article  PubMed  Google Scholar 

  71. Freire M, Rivera A, Sopeña B, Tolosa Vilella C, Guillén-Del Castillo A, Colunga Argüelles D, et al. Clinical and epidemiological differences between men and women with systemic sclerosis: a study in a Spanish systemic sclerosis cohort and literature review. Clin Exp Rheumatol. 2017;35 Suppl 106(4):89–97.

    PubMed  Google Scholar 

  72. Hudson M, Thombs B, Baron M, Canadian Scleroderma Research G. Time to diagnosis in systemic sclerosis: is sex a factor? Arthritis Rheum. 2009;61(2):274–8. https://doi.org/10.1002/art.24284.

    Article  PubMed  Google Scholar 

  73. Peoples C, Medsger TA Jr, Lucas M, Rosario BL, Feghali-Bostwick CA. Gender differences in systemic sclerosis: relationship to clinical features, serologic status and outcomes. J Scleroderma Relat Disord. 2016;1(2):177–240. https://doi.org/10.5301/jsrd.5000209.

    Article  PubMed  Google Scholar 

  74. Saveria Fioretto B, Rosa I, Romano E, Wang Y, Guiducci S, Zhang G, et al. The contribution of epigenetics to the pathogenesis and gender dimorphism of systemic sclerosis: a comprehensive overview. Ther Adv Musculoskelet Dis. 2020;12:1759720X20918456. https://doi.org/10.1177/1759720x20918456.

    Article  Google Scholar 

  75. Ozbalkan Z, Bagislar S, Kiraz S, Akyerli CB, Ozer HT, Yavuz S, et al. Skewed X chromosome inactivation in blood cells of women with scleroderma. Arthritis Rheum. 2005;52(5):1564–70. https://doi.org/10.1002/art.21026.

    Article  CAS  PubMed  Google Scholar 

  76. Selmi C, Feghali-Bostwick CA, Lleo A, Lombardi SA, De Santis M, Cavaciocchi F, et al. X chromosome gene methylation in peripheral lymphocytes from monozygotic twins discordant for scleroderma. Clin Exp Immunol. 2012;169(3):253–62. https://doi.org/10.1111/j.1365-2249.2012.04621.x.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  77. Wang Z, Jinnin M, Nakamura K, Harada M, Kudo H, Nakayama W, et al. Long non-coding RNA TSIX is upregulated in scleroderma dermal fibroblasts and controls collagen mRNA stabilization. Exp Dermatol. 2016;25(2):131–6. https://doi.org/10.1111/exd.12900.

    Article  CAS  PubMed  Google Scholar 

  78. Wermuth PJ, Piera-Velazquez S, Jimenez SA. Exosomes isolated from serum of systemic sclerosis patients display alterations in their content of profibrotic and antifibrotic microRNA and induce a profibrotic phenotype in cultured normal dermal fibroblasts. Clin Exp Rheumatol. 2017;35 Suppl 106(4):21–30.

    PubMed  Google Scholar 

  79. Sing T, Jinnin M, Yamane K, Honda N, Makino K, Kajihara I, et al. microRNA-92a expression in the sera and dermal fibroblasts increases in patients with scleroderma. Rheumatology (Oxford). 2012;51(9):1550–6. https://doi.org/10.1093/rheumatology/kes120.

    Article  CAS  PubMed  Google Scholar 

  80. Vahidi Manesh P, Farazmand A, Gharibdoost F, Vanaki N, Mostafaei S, Kavosi H, et al. Downregulation of miR-542-3p contributes to apoptosis resistance in dermal fibroblasts from systemic sclerosis patients via Survivin overexpression. Iran J Allergy Asthma Immunol. 2019;18(2):173–81.

    PubMed  Google Scholar 

  81. Vinet E, Bernatsky S, Hudson M, Pineau CA, Baron M, Canadian Scleroderma Research G. Effect of menopause on the modified Rodnan skin score in systemic sclerosis. Arthritis Res Ther. 2014;16(3):R130. https://doi.org/10.1186/ar4587.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  82. Scorza R, Caronni M, Bazzi S, Nador F, Beretta L, Antonioli R, et al. Post-menopause is the main risk factor for developing isolated pulmonary hypertension in systemic sclerosis. Ann N Y Acad Sci. 2002;966:238–46. https://doi.org/10.1111/j.1749-6632.2002.tb04221.x.

    Article  PubMed  Google Scholar 

  83. Campochiaro C, Host LV, Ong VH, Denton CP. Development of systemic sclerosis in transgender females: a case series and review of the literature. Clin Exp Rheumatol. 2018;36 Suppl 113(4):50–2.

    PubMed  Google Scholar 

  84. Avouac J, Pezet S, Gonzalez V, Baudoin L, Cauvet A, Ruiz B, et al. Estrogens counteract the profibrotic effects of TGF-β and their inhibition exacerbates experimental dermal fibrosis. J Investig Dermatol. 2020;140(3):593–601.e7. https://doi.org/10.1016/j.jid.2019.07.719.

    Article  CAS  PubMed  Google Scholar 

  85. Ciaffi J, van Leeuwen NM, Schoones JW, Huizinga TWJ, de Vries-Bouwstra JK. Sex hormones and sex hormone-targeting therapies in systemic sclerosis: a systematic literature review. Semin Arthritis Rheum. 2020;50(1):140–8. https://doi.org/10.1016/j.semarthrit.2019.07.007.

    Article  CAS  PubMed  Google Scholar 

  86. Hughes M, Pauling JD, Armstrong-James L, Denton CP, Galdas P, Flurey C. Gender-related differences in systemic sclerosis. Autoimmun Rev. 2020;19(4):102494. https://doi.org/10.1016/j.autrev.2020.102494.

    Article  PubMed  Google Scholar 

  87. Hoffmann-Vold A-M, Maher TM, Philpot EE, Ashrafzadeh A, Barake R, Barsotti S, et al. The identification and management of interstitial lung disease in systemic sclerosis: evidence-based European consensus statements. Lancet Rheumatol. 2020;2(2):e71–83. https://doi.org/10.1016/S2665-9913(19)30144-4.

    Article  PubMed  Google Scholar 

  88. Jewett LR, Kwakkenbos L, Carrier ME, Malcarne VL, Bartlett SJ, Furst DE, et al. Examination of the association of sex and race/ethnicity with appearance concerns: a scleroderma patient-centered intervention network (SPIN) cohort study. Clin Exp Rheumatol. 2016;34 Suppl 100(5):92–9.

    PubMed  Google Scholar 

  89. Bruni C, Raja J, Denton CP, Matucci-Cerinic M. The clinical relevance of sexual dysfunction in systemic sclerosis. Autoimmun Rev. 2015;14(12):1111–5. https://doi.org/10.1016/j.autrev.2015.07.016.

    Article  CAS  PubMed  Google Scholar 

  90. Arnaud L, Nordin A, Lundholm H, Svenungsson E, Hellbacher E, Wikner J, et al. Effect of corticosteroids and cyclophosphamide on sex hormone profiles in male patients with systemic lupus erythematosus or systemic sclerosis. Arthritis Rheumatol. 2017;69(6):1272–9. https://doi.org/10.1002/art.40057.

    Article  CAS  PubMed  Google Scholar 

  91. Bruni C, Tashkin DP, Steen V, Allanore Y, Distler O, Grotts J, et al. Intravenous versus oral cyclophosphamide for lung and/or skin fibrosis in systemic sclerosis: an indirect comparison from EUSTAR and randomised controlled trials. Clin Exp Rheumatol. 2020;38 Suppl 125(3):161–8.

    PubMed  Google Scholar 

  92. Hoffmann-Vold AM, Allanore Y, Alves M, Brunborg C, Airo P, Ananieva LP, et al. Progressive interstitial lung disease in patients with systemic sclerosis-associated interstitial lung disease in the EUSTAR database. Ann Rheum Dis. 2020;80:219. https://doi.org/10.1136/annrheumdis-2020-217455.

    Article  CAS  PubMed  Google Scholar 

  93. Elhai M, Meune C, Boubaya M, Avouac J, Hachulla E, Balbir-Gurman A, et al. Mapping and predicting mortality from systemic sclerosis. Ann Rheum Dis. 2017;76(11):1897–905. https://doi.org/10.1136/annrheumdis-2017-211448.

    Article  PubMed  Google Scholar 

  94. Lee YH. Overall and sex- and disease subtype-specific mortality in patients with systemic sclerosis: an updated meta-analysis. Z Rheumatol. 2019;78(2):195–201. https://doi.org/10.1007/s00393-018-0492-8.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Scleroderma Genomics and Health Disparities Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA

    Pravitt Gourh

  2. Department of Clinical and Experimental Medicine, Section of Rheumatology, University of Florence, Florence, Italy

    Cosimo Bruni

Authors
  1. Pravitt Gourh
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Cosimo Bruni
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Pravitt Gourh .

Editor information

Editors and Affiliations

  1. INSERMU1016, Université Paris Cité,, Service de Rhumatologie, Hôpital Cochin,, Paris, France

    Yannick Allanore

  2. Department of Internal Medicine, University of Michigan–Ann Arbor, Ann Arbor, MI, USA

    John Varga

  3. Centre for Rheumatology, University College London, Royal Free Campus, London, UK

    Christopher P. Denton

  4. Department of Allergy and Rheumatology, Nippon Medical School, Tokyo, Tokyo, Japan

    Masataka Kuwana

  5. Rheumatology, Stanford Medicine, Redwood City, CA, USA

    Lorinda Chung

  6. Division of Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Ami A. Shah

Rights and permissions

Reprints and permissions

Copyright information

© 2024 The Author(s), under exclusive license to Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Gourh, P., Bruni, C. (2024). Influence of Ethnicity and Sex Bias in Systemic Sclerosis. In: Allanore, Y., Varga, J., Denton, C.P., Kuwana, M., Chung, L., Shah, A.A. (eds) Scleroderma. Springer, Cham. https://doi.org/10.1007/978-3-031-40658-4_3

Download citation

  • DOI: https://doi.org/10.1007/978-3-031-40658-4_3

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-031-40657-7

  • Online ISBN: 978-3-031-40658-4

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation