title: Functional variants in SUMO4, TAB2, and NFkappaB and the risk of type 1 diabetes.
abstract: Several functional genetic variants that can potentially modulate the activity of NFkappaB have been recently described. As reduced NFkappaB activity has been implicated in risk for autoimmune diabetes in the NOD mouse, these variants were tested for allelic association with type 1 diabetes (T1D) in a family based study. Alleles at markers in the TAB2/SUMO4 locus on chromosome 6q had been previously reported to be associated with T1D in two separate studies, but these studies disagreed on the identity of the risk allele. The current study failed to confirm either of these results. No significant evidence of association with T1D was obtained for three SNP markers in the TAB2/SUMO4 region. An additional functional variant in the promoter of the NFKB1 gene that has been shown to directly affect the expression of NFkappaB was also tested.
authors.affiliation: Molecular Genetics Program, Benaroya Research Institute and Department of Immunology, University of Washington School of Medicine, Seattle, WA 98101, USA.
authors.forename: R
authors.initials: R
authors.lastname: Kosoy
authors.forename: P
authors.initials: P
authors.lastname: Concannon
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D016328:NF-kappa B / Q000235:genetics* / Q000378:metabolism; D052002:NF-kappa B p50 Subunit; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D017384:Sequence Deletion; D025841:Small Ubiquitin-Related Modifier Proteins / Q000235:genetics* / Q000378:metabolism; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D016328:NF-kappa B; D052002:NF-kappa B p50 Subunit; C489548:NFKB1 protein, human; C489647:SUMO4 protein, human; D025841:Small Ubiquitin-Related Modifier Proteins; C410585:TAB2 protein, human; D014157:Transcription Factors