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AB0001 First description and functional proteomic analysis of a protective for rheumatoid arthritis gene polymorphism
  1. A Sarantopoulos1,
  2. I Theodorou2,
  3. A Notopoulos3,
  4. I Koulas1,
  5. P Boura1
  1. 1Clinical Immunology Unit, 2nd Dpt of Internal Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece
  2. 2Laboratoire d' Histocompatibilite et Immunogenetique, Departement d' Immunologie., Groupe Hospitalier Pitie Salpetriere Charles Foix, Paris, France
  3. 3Department of Nuclear Medicine, Hippokration General Hospital, Thessaloniki, Greece

Abstract

Background Rheumatoid Arthritis (RA) is the most common systemic autoimmune disease, with a respective expanded genetic research1. Immunogenetic studies have documented the positive correlation of various gene loci with incidence and/or disease profile. However, the description of gene loci negatively related to the incidence of RA is rarely documented. Apart from an early study involving HLA class II, there has been no reference to any genetic locus associated with a protective role against RA incidence.

Objectives To identify the sequence of the functional areas of the TRAF1 (TNF receptor associated factor 1 - a protein involved in the intracellular signaling pathway of TNF) gene.

Methods 172 patients and 95 controls were genetically assessed for the sequence of the seven exons of the gene TRAF1.

Results On the position 9:120905076 of exon 7, the registered polymorphism G/A (rs143265058) was described in the controls group. The same polymorphism was not confirmed in any of the patients. Further functional proteomic study of the polymorphism with computing programs (software), revealed that the presence of this polymorphism leads to a differentiation of the quaternary structure of TRAF1 protein, possibly affecting the cohesion of intracellular TNF signaling pathway2.

Conclusions The present reference is one of the extremely rare genetic studies describing a protective gene locus against rheumatoid arthritis, and a pioneer of its kind in the use of Applied Informatics in the depiction of the quaternary structure of the encoded protein. At the same time, it is one of the few immunogenetic studies describing the functional proteomics of the encoded protein, plotting on a molecular level specific interaction modifications affecting the intracellular signaling pathway of TNF.

References

  1. Kim K, Bang SY, Lee HS, Bae SC. Update on the genetic architecture of rheumatoid arthritis. Nat Rev Rheumatol. 2017 Jan; 13 (1): 13–24.

  2. A. Sarantopoulos. TRAF-1 immunogenic study in Rheumatoid Arthritis. PhD Thesis, Aristotle University of Thessaloniki, 2016. (Http://thesis.ekt.gr/thesisBookReader/id/38410#page/1/mode/2up).

References

Disclosure of Interest None declared

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