首页> 外文期刊>International journal of immunogenetics >Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients.
【24h】

Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients.

机译:德国特应性皮炎患者表皮分化复合物基因的变异。

获取原文
获取原文并翻译 | 示例
           

摘要

The filaggrin (FLG) gene is one of the most widely replicated susceptibility genes for atopic dermatitis (AD) so far. Yet, FLG mutations cannot fully account for the original linkage peak on chromosome 1q21, a region comprising the so-called epidermal differentiation complex (EDC). Since the EDC contains numerous genes relevant for epidermal differentiation, we sought to evaluate variation in other genes located in this region in a German AD case-control cohort. Thirty-two single nucleotide polymorphisms (SNPs) in 21 genes across the EDC were genotyped in 402 unrelated AD patients and 325 non-atopic controls by means of restriction enzyme digestion or TaqMan assays. Allele and genotype frequencies were tested for differences between patients and controls by logistic regression. Haplotype frequencies were evaluated using the famhap software. Except for the already known association with FLG, we did not identify any additional significant associations of EDC genes with AD. Thus, in this German cohort, there is no evidence that additional genes in the EDC region apart from FLG contribute substantially to AD pathogenesis.
机译:丝蛋白(FLG)基因是迄今为止特应性皮炎(AD)的最广泛复制的易感基因之一。然而,FLG突变不能完全解释染色体1q21上的原始连锁峰,该区域包括所谓的表皮分化复合物(EDC)。由于EDC包含许多与表皮分化相关的基因,因此我们试图评估德国AD病例对照队列中位于该区域的其他基因的变异。通过限制性内切酶消化或TaqMan分析,对402名无亲缘关系的AD患者和325名非特应性对照的EDC中21个基因的32个单核苷酸多态性(SNP)进行了基因分型。通过逻辑回归测试等位基因和基因型频率在患者和对照之间的差异。使用famhap软件评估单倍型频率。除了与FLG的已知关联外,我们没有发现EDC基因与AD的任何其他显着关联。因此,在这个德国队列中,没有证据表明EDC区域中除FLG之外的其他基因对AD发病机理有实质性贡献。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号