A functional variant of SUMO4, a new I kappa B alpha modifier, is associated with type 1 diabetes.

摘要: Previous studies have suggested more than 20 genetic intervals that are associated with susceptibility to type 1 diabetes (T1D), but identification of specific genes has been challenging and largely limited known candidate genes. Here, we report evidence for an association between T1D multiple single-nucleotide polymorphisms in 197 kb genomic DNA the IDDM5 interval. We cloned a new gene (SUMO4), encoding small ubiquitin-like modifier 4 protein, A substitution (M55V) at evolutionarily conserved residue crucial CUE domain SUMO4 was strongly (P = 1.9 x 10(-7)). conjugates I kappa B alpha negatively regulates NF transcriptional activity. The M55V resulted 5.5 times greater activity approximately 2 expression IL12B, B-dependent gene. These findings suggest pathway may be implicated pathogenesis T1D.