Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2011 Feb;13(1):13-20.
doi: 10.1007/s11926-010-0139-5.

The genetics of scleroderma

Javier Martin  1 , Carmen Fonseca
Affiliations
Review

The genetics of scleroderma

Javier Martin et al. Curr Rheumatol Rep. 2011 Feb.

Abstract

The importance of the genetic component in the pathogenesis of scleroderma, or systemic sclerosis, has been strengthened in the past 2 years with studies on genetic markers-either candidate gene or genome-wide association studies--in large case-control series. Multiple genes have been consistently associated with susceptibility to scleroderma, and interestingly, several of them are involved in immune regulation. Because many of these genes are shared with other autoimmune diseases, a common underlying autoimmune mechanism has been proposed. The challenge that lies ahead is to confirm these associations and to find markers or pathways that are unique to scleroderma and that may define its distinctive phenotype.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

  • Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up.
    Martin JE, Broen JC, Carmona FD, Teruel M, Simeon CP, Vonk MC, van 't Slot R, Rodriguez-Rodriguez L, Vicente E, Fonollosa V, Ortego-Centeno N, González-Gay MA, García-Hernández FJ, de la Peña PG, Carreira P; Spanish Scleroderma Group; Voskuyl AE, Schuerwegh AJ, van Riel PL, Kreuter A, Witte T, Riemekasten G, Airo P, Scorza R, Lunardi C, Hunzelmann N, Distler JH, Beretta L, van Laar J, Chee MM, Worthington J, Herrick A, Denton C, Tan FK, Arnett FC, Assassi S, Fonseca C, Mayes MD, Radstake TR, Koeleman BP, Martin J. Martin JE, et al. Hum Mol Genet. 2012 Jun 15;21(12):2825-35. doi: 10.1093/hmg/dds099. Epub 2012 Mar 9. Hum Mol Genet. 2012. PMID: 22407130 Free PMC article.
  • Salivary Biomarkers in Systemic Sclerosis Disease.
    Zian Z, Bakkach J, Barakat A, Ghailani Nourouti N, Bennani Mechita M. Zian Z, et al. Biomed Res Int. 2018 Mar 12;2018:3921247. doi: 10.1155/2018/3921247. eCollection 2018. Biomed Res Int. 2018. PMID: 29721505 Free PMC article. Review.
  • Genetics, Epigenetics, and Genomics of Systemic Sclerosis.
    Salazar G, Mayes MD. Salazar G, et al. Rheum Dis Clin North Am. 2015 Aug;41(3):345-66. doi: 10.1016/j.rdc.2015.04.001. Epub 2015 May 20. Rheum Dis Clin North Am. 2015. PMID: 26210123 Free PMC article. Review.
  • Novel identification of the IRF7 region as an anticentromere autoantibody propensity locus in systemic sclerosis.
    Carmona FD, Gutala R, Simeón CP, Carreira P, Ortego-Centeno N, Vicente-Rabaneda E, García-Hernández FJ, García de la Peña P, Fernández-Castro M, Martínez-Estupiñán L, Egurbide MV, Tsao BP, Gourh P, Agarwal SK, Assassi S, Mayes MD, Arnett FC, Tan FK, Martín J; Spanish Scleroderma Group. Carmona FD, et al. Ann Rheum Dis. 2012 Jan;71(1):114-9. doi: 10.1136/annrheumdis-2011-200275. Epub 2011 Sep 16. Ann Rheum Dis. 2012. PMID: 21926187 Free PMC article.
  • A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis.
    Bossini-Castillo L, Simeon CP, Beretta L, Broen JC, Vonk MC, Ríos-Fernández R, Espinosa G, Carreira P, Camps MT, Castillo MJ, González-Gay MA, Beltrán E, Carmen Freire Md, Narváez J, Tolosa C, Witte T, Kreuter A, Schuerwegh AJ, Hoffmann-Vold AM, Hesselstrand R, Lunardi C, van Laar JM, Chee MM, Herrick A, Koeleman BP, Denton CP, Fonseca C, Radstake TR, Martin J; Spanish Scleroderma Group. Bossini-Castillo L, et al. Arthritis Res Ther. 2012 Apr 24;14(2):R85. doi: 10.1186/ar3809. Arthritis Res Ther. 2012. PMID: 22531499 Free PMC article.
See all "Cited by" articles

References

    1. Hum Immunol. 2009 Feb;70(2):130-3 - PubMed
    1. J Cell Commun Signal. 2009 Jun;3(2):89-94 - PubMed
    1. Ann Rheum Dis. 2009 Apr;68(4):584-90 - PubMed
    1. Arthritis Rheum. 2009 Jun;60(6):1845-50 - PubMed
    1. PLoS One. 2008 Jul 16;3(7):e2696 - PubMed

Publication types

Substances

LinkOut - more resources