Towards systemic sclerosis and away from primary biliary cirrhosis: The case of PTPN22

Daniel S. Smyk, Maria G. Mytilinaiou, Piotr Milkiewicz, Eirini I. Rigopoulou, Pietro Invernizzi, Dimitrios P. Bogdanos

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Primary biliary cirrhosis (PBC) is a chronic cholestatic liver disease characterized by immune-mediated destruction of the small and medium size intrahepatic bile ducts. PBC patients often have concomitant autoimmune diseases, which are most often autoimmune thyroid disease, as well as Sicca syndrome. Occasionally, some PBC patients will also have systemic sclerosis of the limited cutaneous type (lcSSc). Conversely, up to one-fourth of SSc patients are positive for antimitochondrial antibody, the serologic hallmark of PBC. It is also common for SSc patients to have concomitant autoimmune disease, which may include PBC in rare cases. This has led to speculation of shared environmental and/or genetic factors, which lead to the development of PBC in SSc patients and vice versa. Recent genetic studies have revealed associations with several genes in both SSc and PBC. PTPN22 is one gene that has been associated with SSc, but not with PBC. It may be argued that some SSc patients with a particular genotype, which shares genes found in both conditions may develop PBC. Likewise, particular genes such as PTPN22 may infer susceptibility to SSc alone. The presence of PTPN22 may also contribute to the development of SSc in PBC patients. The lack of a large number of overlapping genes may, in part, explain the relative rarity of PBC with SSc and vice versa. This review will examine the literature surrounding the genetic associations of PBC and SSc, and the role of PTPN22 in particular.

Original languageEnglish
Pages (from-to)1-9
Number of pages9
JournalAutoimmunity Highlights
Volume3
Issue number1
DOIs
Publication statusPublished - Apr 2012

Fingerprint

Biliary Liver Cirrhosis
Systemic Scleroderma
Autoimmune Diseases
Genes
Overlapping Genes
Intrahepatic Bile Ducts
Sjogren's Syndrome
Thyroid Diseases
Liver Diseases
Genotype

Keywords

  • Autoimmune disease
  • Autoimmunity
  • Bile ducts
  • Cholestasis
  • Immunology
  • Liver
  • Rheumatology

ASJC Scopus subject areas

  • Rheumatology
  • Immunology

Cite this

Smyk, D. S., Mytilinaiou, M. G., Milkiewicz, P., Rigopoulou, E. I., Invernizzi, P., & Bogdanos, D. P. (2012). Towards systemic sclerosis and away from primary biliary cirrhosis: The case of PTPN22. Autoimmunity Highlights, 3(1), 1-9. https://doi.org/10.1007/s13317-011-0023-y

Towards systemic sclerosis and away from primary biliary cirrhosis : The case of PTPN22. / Smyk, Daniel S.; Mytilinaiou, Maria G.; Milkiewicz, Piotr; Rigopoulou, Eirini I.; Invernizzi, Pietro; Bogdanos, Dimitrios P.

In: Autoimmunity Highlights, Vol. 3, No. 1, 04.2012, p. 1-9.

Research output: Contribution to journalArticle

Smyk, DS, Mytilinaiou, MG, Milkiewicz, P, Rigopoulou, EI, Invernizzi, P & Bogdanos, DP 2012, 'Towards systemic sclerosis and away from primary biliary cirrhosis: The case of PTPN22', Autoimmunity Highlights, vol. 3, no. 1, pp. 1-9. https://doi.org/10.1007/s13317-011-0023-y
Smyk DS, Mytilinaiou MG, Milkiewicz P, Rigopoulou EI, Invernizzi P, Bogdanos DP. Towards systemic sclerosis and away from primary biliary cirrhosis: The case of PTPN22. Autoimmunity Highlights. 2012 Apr;3(1):1-9. https://doi.org/10.1007/s13317-011-0023-y
Smyk, Daniel S. ; Mytilinaiou, Maria G. ; Milkiewicz, Piotr ; Rigopoulou, Eirini I. ; Invernizzi, Pietro ; Bogdanos, Dimitrios P. / Towards systemic sclerosis and away from primary biliary cirrhosis : The case of PTPN22. In: Autoimmunity Highlights. 2012 ; Vol. 3, No. 1. pp. 1-9.
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