Post-GWAS functional characterization of susceptibility variants for chronic lymphocytic leukemia.
作者: Fenna C M SilléReuben ThomasMartyn T SmithLucia CondeChristine F Skibola
刊名: PLoS ONE, 2017, Vol.7 (1)
来源数据库: Directory of Open Access Journals
DOI: 10.1371/journal.pone.0029632
原始语种摘要: Recent genome-wide association studies (GWAS) have identified several gene variants associated with sporadic chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). Many of these CLL/SLL susceptibility loci are located in non-coding or intergenic regions, posing a significant challenge to determine their potential functional relevance. Here, we review the literature of all CLL/SLL GWAS and validation studies, and apply eQTL analysis to identify putatively functional SNPs that affect gene expression that may be causal in the pathogenesis of CLL/SLL. We tested 12 independent risk loci for their potential to alter gene expression through cis-acting mechanisms, using publicly available gene expression profiles with matching genotype information. Sixteen SNPs were identified that...
全文获取路径: DOAJ  (合作)
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影响因子:3.73 (2012)

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关键词翻译
关键词翻译
  • functional 功能的
  • expression 表示
  • lymphocytic 淋巴细胞的
  • several 各自
  • susceptibility 磁化率
  • CLL Critical Load Line
  • leukemia 白血病
  • intergenic 基因间的
  • available 可供应的
  • involved 涉及