Genetics of autoimmunity: an update.

Rosa Sorrentino (1)

1 Department of Biology and Biotechnology "Charles Darwin"

The advent of genome-wide association studies (GWAS) has produced tremendous insights into the genetics of immune-mediated diseases allowing to identify hundreds of associated variants, some of which disease-specific and some others shared by groups of diseases. However, each variant usually accounts for a small genetic risk and all together they explain a relatively small portion of heritability for each disease. In addition, many of the associated variants map in regions of still undisclosed functions. This opens up to a new era of studies in search of the "missing heritability" which might partially be explained by gene-gene interactions and/or additive effects impacting on biochemical pathways relevant for the disease pathogenesis. The introduction of the immunochip analysis that allows to analyze thousands of patients for variations more strictly correlated with the immune/inflammatory functions is now allowing to single out relevant pathways shared by different diseases. Finally, great expectations are brought about from the studies on the effects that epigenetic modifications can have on the tuning of the expression of single allele/s in myeloid cells as well as in target tissues. Some of these topics have been discussed at the 15th International Congress of Immunology.

Keywords: Autoimmunity; Genetics; Polymorphisms

Domains: Immunology

Rosa Sorrentino. Genetics of autoimmunity: an update.. Immunology Letters, 2013, 158 (1-2), pp.116-9. ⟨10.1016/j.imlet.2013.12.005⟩. ⟨pasteur-01054186⟩