Analysis of CIITA encoding AIR-1 gene promoters in insulin-dependent diabetes mellitus and rheumatoid arthritis patients from the Northeast of Italy: Absence of sequence variability

Silvia Sartoris, Andrea Brendolan, Alexa Degola, Maria Grazia Testi, Roberto Chignola, Aldo Scarpa, Maria Scardoni, Giovanna Contreas, Leonardo Pinelli, Claudio Lunardi, Ruggero Beri, Cinzia Pera, G. Battista Ferrara, Anna Pia Riviera, Giuseppe Tridente, Giancarlo Andrighetto

Research output: Contribution to journalArticle

Abstract

Qualitative and/or quantitative alterations in the expression of the MHC class II molecules affect the onset and maintenance of the immune response and may be the basis of a wide variety of disease states, such as autoimmunity and immunodeficiency. CIITA is a major physiological regulator of the expression of MHC class II genes. The availability of CIITA appears generally essential for MHC class II gene expression, and hence its own transcriptional regulatory mechanisms result of fundamental importance for a correct homeostasis of the immune response. Therefore, it is possible to hypothesize that variability at the CIITA encoding locus, AIR-1, could constitute an additional source of susceptible traits to autoimmune diseases. Mutations at AIR-1/CIITA promoters could modulate expression of CIITA. Variations in CIITA expression could influence the qualitative and quantitative expression of MHC class II molecules at cell surface. We have analyzed sequence variation at AIR-1/CIITA promoters by PCR-SSCP in 23 IDDM and 30 RA patients compared to a sample of 19 unaffected normal controls and 16 unaffected IDDM family members, for a total of 88 Caucasian subjects from the Northeast of Italy. No sequence difference was found at the four AIR- 1/CIITA promoters between autoimmune patients and normal controls. Moreover, the promoters resulted invariant within the entire group of 88 subjects analyzed, comprising patients and controls. This finding suggests a possible selective advantage in maintaining CIITA upstream regulatory sequences invariant. (C) American Society for Histocompatibility and Immunogenetics, 2000.

Original languageEnglish
Pages (from-to)599-604
Number of pages6
JournalHuman Immunology
Volume61
Issue number6
DOIs
Publication statusPublished - Jun 2000

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Keywords

  • CIITA promoter polymorphism
  • IDDM
  • RA

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

Cite this

Sartoris, S., Brendolan, A., Degola, A., Testi, M. G., Chignola, R., Scarpa, A., Scardoni, M., Contreas, G., Pinelli, L., Lunardi, C., Beri, R., Pera, C., Ferrara, G. B., Riviera, A. P., Tridente, G., & Andrighetto, G. (2000). Analysis of CIITA encoding AIR-1 gene promoters in insulin-dependent diabetes mellitus and rheumatoid arthritis patients from the Northeast of Italy: Absence of sequence variability. Human Immunology, 61(6), 599-604. https://doi.org/10.1016/S0198-8859(00)00121-X