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New insights into the genetics of immune responses in rheumatoid arthritis.
Ruyssen-Witrand A., Constantin A., Cambon-Thomsen A., Thomsen M.
Tissue Antigens 80, 2 (2012) 105-18 - http://www.hal.inserm.fr/inserm-00730978
New insights into the genetics of immune responses in rheumatoid arthritis.
Adeline Ruyssen-Witrand1, 2, Arnaud Constantin1, 2, Anne Cambon-Thomsen1, Mogens Thomsen () 1, 3
1 :  Epidémiologie et anlyses en santé publique: risques, maladies chroniques et handicaps
INSERM : U1027 – Université Paul Sabatier (UPS) - Toulouse III
Faculté de médecine Purpan, 37 allée Jules Guesde 31073 Toulouse Cedex 7
2 :  Centre de rhumatologie
CHU Toulouse – Hôpital Purpan
3 :  I2MC - Institut des Maladies Métaboliques et Cardiovasculaires
INSERM : U1048 – Université Paul Sabatier (UPS) - Toulouse III – Hôpital de Rangueil
1 avenue du Prof Jean Poulhes - BP 84225 - 31432 Toulouse Cedex 4
Genetics of rheumatoid arthritis
Rheumatoid arthritis (RA) is a common autoimmune disease with a strong genetic component. Numerous aberrant immune responses have been described during the evolution of the disease. In later years, the appearance of anti-citrullinated protein antibodies (ACPAs) has become a hallmark for the diagnosis and prognosis of RA. The post-translational transformation of arginine residues of proteins and peptides into citrulline (citrullination) is a natural process in the body, but for unknown reasons autoreactivity towards citrullinated residues may develop in disposed individuals. ACPAs are often found years before clinical manifestations. ACPAs are present in about 70% of RA patients and constitute an important disease marker, distinguishing patient groups with different prognoses and different responses to various treatments. Inside the human leukocyte antigen (HLA) region, some HLA-DRB1 alleles are strongly associated with their production. Genome-wide association studies in large patient cohorts have defined a great number of single nucleotide polymorphisms (SNPs) outside of the HLA region that are associated with ACPA positive (ACPA+) RA. The SNPs are generally located close to or within genes involved in the immune response or signal transduction in immune cells. Some environmental factors such as tobacco smoking are also positively correlated with ACPA production. In this review, we will describe the genes and loci associated with ACPA+ RA or ACPA- RA and attempt to clarify their potential role in the development of the disease.
Sciences du Vivant/Médecine humaine et pathologie/Endocrinologie et métabolisme

Articles dans des revues avec comité de lecture
Tissue Antigens (Tissue Antigens)
Publisher Wiley-Blackwell
ISSN 0001-2815 (eISSN : 1399-0039)

Rheumatoid arthritis – single nucleotide polymorphisms – genetics – immune response – autoantibodies – citrullination
AC is supported by an interface contract between Inserm and the CHU Toulouse and ARW is supported by the Association Midi-Pyrénées Santé, project APOGEE.
Liste des fichiers attachés à ce document : 
Review_RA260512.docx(318.7 KB)
Fig1.pdf(53.8 KB)
Fig2.pdf(183.2 KB)
Fig3.pdf(250.4 KB)
Review_RA260512.pdf(625.2 KB)