SUMO4、TAB2和核因子κB中的功能变体与1型糖尿病风险

Functional variants in SUMO4, TAB2, and NFkappaB and the risk of type 1 diabetes.

作者信息

Kosoy R, Concannon P

机构信息

Molecular Genetics Program, Benaroya Research Institute and Department of Immunology, University of Washington School of Medicine, Seattle, WA 98101, USA.

出版信息

Genes Immun. 2005 May;6(3):231-5. doi: 10.1038/sj.gene.6364174.

DOI:10.1038/sj.gene.6364174

PMID:15729364

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.

摘要

最近已经描述了几种可能调节NFκB活性的功能性基因变异。由于NFκB活性降低与非肥胖糖尿病（NOD）小鼠自身免疫性糖尿病的风险有关，因此在一项基于家系的研究中对这些变异进行了1型糖尿病（T1D）的等位基因关联测试。先前在两项独立研究中报道，位于6号染色体q上TAB2/SUMO4基因座标记处的等位基因与T1D相关，但这些研究在风险等位基因的身份上存在分歧。当前的研究未能证实这两个结果中的任何一个。在TAB2/SUMO4区域的三个单核苷酸多态性（SNP）标记中，未获得与T1D相关的显著证据。还测试了NFKB1基因启动子中的另一个功能性变异，该变异已被证明可直接影响NFκB的表达。