...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>The Journal of dermatology >Variation at HLA-DPB1 is associated with dermatomyositis in Chinese population
【24h】

Variation at HLA-DPB1 is associated with dermatomyositis in Chinese population

机译：HLA-DPB1的变异与中国人群皮肌炎有关

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Dermatomyositis (DM) is a polygenic disorder characterized by inflammation of skeletal muscle and skin. To date, the exact etiopathogenesis of DM remains elusive. To explore the genetic basis of DM, we conducted genome-wide genotyping analysis of 127 patients and 1566 healthy controls by Illumina Human OmniZhongHua-8 Bead-Chips in the Chinese Han population. We investigated whether the three SNP (rs7750458, rs9501251 and rs9500928) at 6p21.32 in the HLA-DPB1 gene were significantly associated with DM (P < 5 x 10(-8)) and identified two susceptibility loci at 7q34 (PIP, rs9986765, P = 7.45 x 10(-7), odds ratio [OR] = 2.71) and 10q24.2 (CPN1, rs3750716, P = 9.04 x 10(-7), OR = 4.39) with suggestive evidence. We imputed 6674 classical human leukocyte antigen (HLA) alleles, amino acids and SNP from the discovery dataset, and stepwise analysis revealed that HLA-DPB1(star)17 in class II HLA genes were significantly associated with DM susceptibility. This study represents the first genome-wide association study (GWAS) of DM in the Chinese Han population. For the first time, HLA-DPB1 was found to be associated with DM in this population. Moreover, we identified two novel suggestive susceptibility loci (PIP and CPN1) and confirmed four previously reported genes (DMB, DQA1, DQB1 and DRB1) having potential associations with DM in the Chinese Han population. Our GWAS results in this population should provide important information regarding the genetic etiopathogenesis of DM and facilitate the development of new therapies for the treatment of DM and the prevention of DM progression.
机译：皮肌炎（DM）是一种多基因性疾病，其特征是骨骼肌和皮肤发炎。迄今为止，DM的确切病因仍不清楚。为了探索DM的遗传基础，我们通过Illumina Human OmniZhongHua-8 Bead-Chip在中国汉族人群中对127例患者和1566例健康对照进行了全基因组基因分型分析。我们调查了HLA-DPB1基因中6p21.32处的三个SNP（rs7750458，rs9501251和rs9500928）是否与DM显着相关（P <5 x 10（-8）），并确定了7q34处的两个易感基因座（PIP，rs9986765） ，P = 7.45 x 10（-7），优势比[OR] = 2.71）和10q24.2（CPN1，rs3750716，P = 9.04 x 10（-7），OR = 4.39），具有启发性证据。我们从发现数据集中估算了6674个经典人类白细胞抗原（HLA）等位基因，氨基酸和SNP，并且逐步分析显示II类HLA基因中的HLA-DPB1（star）17与DM易感性显着相关。这项研究代表了中国汉族人群中DM的第一个全基因组关联研究（GWAS）。首次发现该人群中HLA-DPB1与DM相关。此外，我们确定了两个新的提示性易感基因座（PIP和CPN1），并确认了四个先前报道的基因（DMB，DQA1，DQB1和DRB1）与中国汉族人群的DM潜在关联。我们在该人群中的GWAS结果应提供有关DM遗传病因的重要信息，并促进开发新的治疗DM和预防DM进展的疗法。

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