Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011854 (type 1 diabetes)
 20,749 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Previous studies suggested that the SUMO4 gene, located in the IDDM5 interval on chromosome 6q25, was associated with type I diabetes (T1D) and several other autoimmune diseases. Subsequent analyses of the SUMO4 variants with T1D suggested that the association was stronger and more consistent in the Asian populations. In addition, considerable heterogeneity has been observed in the Caucasian populations. In this report, a 40-kb genomic interval including the SUMO4 gene was tagged with 15 single-nucleotide polymorphisms. A total of 2317 affected sib-pair families from the Type I Diabetes Genetic Consortium were genotyped using both the Illumina and Sequenom genotyping platforms. In these Caucasian families, we found little evidence supporting an association between SUMO4 and T1D.
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PMID:Analyses of multiple single-nucleotide polymorphisms in the SUMO4/IDDM5 region in affected sib-pair families with type I diabetes. 1995 95

Susceptibility to type 1 diabetes (T1D) is determined by interactions of multiple genes with environmental triggers. Thus far, more than 50 T1D susceptibility regions have been suggested from genetic studies by employing either genome-wide or candidate gene approaches. Because the lack of a linear correlation between the presence of risk genes and the onset of disease, the exact susceptible genes encoded in these regions remain largely elusive. In 2004, we first reported the cloning of a novel small ubiquitin -like modifier (SUMO) gene, SUMO4, in the IDDM5 region on chromosome 6q25, and presented strong genetic and functional evidence suggesting that SUMO4 could be a novel T1D susceptibility gene. Follow up studies have consistently confirmed this association in multiple Asian populations despite controversial observations in Caucasians, which could be caused by genetic heterogeneity. In this chapter, we will summarize and validate genetic data for SUMO4 association studies in type 1 diabetes. The functional properties and possible molecular mechanisms by which altered sumoylation function modulates the development of type 1 diabetes will be also discussed based on published data.
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PMID:Sumoylation Modulates the Susceptibility to Type 1 Diabetes. 2819 20


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