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10.1038/ng.3434

http://scihub22266oqcxt.onion/10.1038/ng.3434
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suck abstract from ncbi


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pmid26502338
      Nat+Genet 2015 ; 47 (12 ): 1457-1464
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  • Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus #MMPMID26502338
  • Bentham J ; Morris DL ; Graham DSC ; Pinder CL ; Tombleson P ; Behrens TW ; Martín J ; Fairfax BP ; Knight JC ; Chen L ; Replogle J ; Syvänen AC ; Rönnblom L ; Graham RR ; Wither JE ; Rioux JD ; Alarcón-Riquelme ME ; Vyse TJ
  • Nat Genet 2015[Dec]; 47 (12 ): 1457-1464 PMID26502338 show ga
  • Systemic lupus erythematosus (SLE) is a genetically complex autoimmune disease characterized by loss of immune tolerance to nuclear and cell surface antigens. Previous genome-wide association studies (GWAS) had modest sample sizes, reducing their scope and reliability. Our study comprised 7,219 cases and 15,991 controls of European ancestry, constituting a new GWAS, a meta-analysis with a published GWAS and a replication study. We have mapped 43 susceptibility loci, including ten new associations. Assisted by dense genome coverage, imputation provided evidence for missense variants underpinning associations in eight genes. Other likely causal genes were established by examining associated alleles for cis-acting eQTL effects in a range of ex vivo immune cells. We found an over-representation (n = 16) of transcription factors among SLE susceptibility genes. This finding supports the view that aberrantly regulated gene expression networks in multiple cell types in both the innate and adaptive immune response contribute to the risk of developing SLE.
  • |*Gene Expression Regulation [MESH]
  • |*Genetic Association Studies [MESH]
  • |Adaptive Immunity/*genetics [MESH]
  • |Case-Control Studies [MESH]
  • |Genetic Loci [MESH]
  • |Genetic Markers/*genetics [MESH]
  • |Genetic Predisposition to Disease [MESH]
  • |Humans [MESH]
  • |Immunity, Innate/*genetics [MESH]
  • |Lupus Erythematosus, Systemic/*genetics/immunology/*pathology [MESH]
  • |Meta-Analysis as Topic [MESH]
  • |Polymorphism, Single Nucleotide/genetics [MESH]


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