Selected article for: "genomic convergence and novel SLE gene"
Author: Mohammad Saeed; Alejandro Ibáñez-Costa; Alejandra María Patiño-Trives; Eduardo Collantes Estevez; María Ángeles Aguirre; Chary López-Pedrera
Title: Genomic convergence of locus-based GWAS meta-analysis identifies DDX11 as a novel Systemic Lupus Erythematosus gene
  • Document date: 2020_4_18
    • ID: 27szdvgd_20
    Snippet: This study employed a genetic and functional analysis using OASIS, a locus-based test, and multiple gene expression datasets to identify novel SLE genes. The most important finding of this study was the identification of DDX11 which was significantly downregulated in both the GEO (P=3.60E-02) and the Cordoba (P=8.02E-03) SLE expression datasets. DDX11 downregulation in SLE was confirmed (P=0.001) using qPCR on monocytes. The most significant SNP .....
    Document: This study employed a genetic and functional analysis using OASIS, a locus-based test, and multiple gene expression datasets to identify novel SLE genes. The most important finding of this study was the identification of DDX11 which was significantly downregulated in both the GEO (P=3.60E-02) and the Cordoba (P=8.02E-03) SLE expression datasets. DDX11 downregulation in SLE was confirmed (P=0.001) using qPCR on monocytes. The most significant SNP rs3741869 in OASIS locus 19 containing the gene DDX11, was found to be a cis-eQTL regulating the expression of DDX11 (P=8.62E-05). DDX11 interacted with multiple known SLE genes including STAT1/STAT4, identified using genomic convergence of OASIS loci and expression analysis.

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