
pmid: 20863905
In the field of genetics of SSc, we are currently reaching a period of rapid data production. Several themes are already rising from the first wave of results. First, some genetic variants clearly predispose to multiple autoimmune diseases, thus providing evidence for a shared autoimmune genetic background. Second, multiple genes are involved in the SSc predisposition and as expected the genetic associations are quite modest. Third, unless for a small number of exceptions, the causative genetic variations have not been definitively identified yet. Lastly, to date, the most convincing associations detected relate to genes playing a pivotal role in both innate and adaptative immunity. Indeed, additionally to the MHC, candidate gene studies have convincingly and reproducibly identified PTPN22, IRF5, STAT4, C8orf13-BLK, BANK1 and TNFSF4 as SSc susceptibility genes. Although these results have substantially advanced our understanding of the SSc pathogenesis, both gene-gene and gene-environment studies are now awaited in order to further improve our understanding of this multifacet disease. Finally, we should keep in mind that SSc is a very severe that is until now unfortunately free of effective therapy. Therefore, the identification of new susceptibility genes may offer a rich source of new hypotheses and experimental directions to follow that we should try to assembly in a near future to generate innovative therapies to fight this dramatic disease.
Scleroderma, Systemic, Gene Expression, Membrane Proteins, Genetic Pleiotropy, OX40 Ligand, Protein Tyrosine Phosphatase, Non-Receptor Type 22, STAT4 Transcription Factor, Polymorphism, Single Nucleotide, Autoimmune Diseases, Interferon Regulatory Factors, Immunogenetics, Humans, Genetic Predisposition to Disease, Molecular Targeted Therapy, Adaptor Proteins, Signal Transducing
Scleroderma, Systemic, Gene Expression, Membrane Proteins, Genetic Pleiotropy, OX40 Ligand, Protein Tyrosine Phosphatase, Non-Receptor Type 22, STAT4 Transcription Factor, Polymorphism, Single Nucleotide, Autoimmune Diseases, Interferon Regulatory Factors, Immunogenetics, Humans, Genetic Predisposition to Disease, Molecular Targeted Therapy, Adaptor Proteins, Signal Transducing
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