These observations have a direct relevance to human disease since there is accumulating evidence that polymorphic variants of PINK1, PARKIN, CLEC16A and PDX1 (which regulates CLEC16A expression) show clear associations with the risk of developing autoimmune diseases such as T1D, multiple sclerosis and systemic lupus erythematosus (SLE) [41,50,52,53,54]. This evidence concerns the gene PDX1 and systemic lupus erythematosus.