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Individual and environmental determinants of autoimmune diseases  

Carlo Selmi, MD PhD
Principal Investigator, Laboratory of Autoimmunity and Metabolism
Head, Division of Rheumatology and Clinical Immunology, Humanitas Research Hospital


Individual and environmental determinants of autoimmune diseases: the role of sex, autoantibodies, and epigenetics

Autoimmune diseases, largely represented by rheumatic conditions, affect nearly 5% of the world population and share some crucial common features. First, all conditions are associated with serum autoantibodies that are central to the diagnostic process but the correlation between isolated serum antibodies and disease incidence is largely unknown. Second, nearly all diseases manifest a striking female predominance and the clinical phenotype appears to differ between sexes. Third, monozygotic twins manifest a largely incomplete concordance for autoimmune diseases, thus pointing towards an environmental influence.


This interest is cumulatively represented by specific lines of research:

  1. Unique population-based case-finding studies will unravel the prevalence and clinical significance of serum autoantibodies and metabolic/dietary disturbances. Two longitudinal population-based studies on two representative populations of Northern Italy are being conducted to dissect the prevalence of serum autoantibodies and the predictive value over time
  2. The use of immunoprecipitation allows identify new serum autoantibodies in previously seronegative (psoriasis, Behcet disease) or seropositive (autoimmune liver disease) immune-mediated conditions
  3. The identification and clinical definition of monozygotic twins discordant and concordant for autoimmune (systemic and organ-specific) and chronic inflammatory (psoriasis, inflammatory bowel disease) conditions will allow to weigh the impact of the environment on disease susceptibility by means of the epigenome comparison
  4. The study of administrative databases will determine the sex-related factors determining patient characteristics, treatment initiation timing, and outcomes in rheumatoid and psoriatic arthritis



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