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

机译:SUMO4,TAB2和NFkappaB中的功能变异以及1型糖尿病的风险。

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摘要

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.
机译:最近已经描述了几种可以潜在地调节NFkappaB活性的功能遗传变异。由于降低的NFkappaB活性与NOD小鼠自身免疫性糖尿病的风险有关,因此在一项基于家庭的研究中测试了这些变体与1型糖尿病(T1D)的等位基因关联。先前在两项单独的研究中已报道了染色体6q上TAB2 / SUMO4基因座上标记的等位基因与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些结果。对于TAB2 / SUMO4区域中的三个SNP标记,没有获得与T1D相关的明显证据。还测试了已证明直接影响NFkappaB表达的NFKB1基因启动子中的其他功能性变体。

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