Article
De novo germline mutation in the dual specificity phosphatase 10 gene accelerates autoimmune diabetes.
Proceedings of the National Academy of Sciences of the United States of America - 23 Nov 2021
Foray Anne-Perrine, Candon Sophie, Hildebrand Sara, Marquet Cindy, Valette Fabrice, Pecquet Coralie, Lemoine Sebastien, Langa-Vives Francina, Dumas Michael, Hu Peipei, Santamaria Pere, You Sylvaine, Lyon Stephen, Scott Lindsay, Bu Chun Hui, Wang Tao, Xu Darui, Moresco Eva Marie Y, Scazzocchio Claudio, Bach Jean-François, Beutler Bruce, Chatenoud Lucienne
Abstract excerpt
Insulin-dependent or type 1 diabetes (T1D) is a polygenic autoimmune disease. In humans, more than 60 loci carrying common variants that confer disease susceptibility have been identified by genome-wide association studies, with a low individual risk contribution for most variants excepting those of the major histocompatibility complex (MHC) region (40 to 50% of risk); hence the importance of missing heritability...
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