کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3355394 | 1217175 | 2014 | 4 صفحه PDF | دانلود رایگان |

• Autoimmune diseases are common, non-mendelian complex disorders.
• GWAS have pinpointed many associated genes, some shared by more than one disease.
• Heritability is not fully explained by these associations.
• The associated variants can act on tissue-specific as well as in myeloid cells.
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.
Journal: Immunology Letters - Volume 161, Issue 2, October 2014, Pages 196–199