GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region

Academic Article


  • In a genome-wide association study (GWAS) of individuals of European ancestry afflicted with systemic lupus erythematosus (SLE) the extensive utilization of imputation, step-wise multiple regression, lasso regularization and increasing study power by utilizing false discovery rate instead of a Bonferroni multiple test correction enabled us to identify 13 novel non-human leukocyte antigen (HLA) genes and confirmed the association of four genes previously reported to be associated. Novel genes associated with SLE susceptibility included two transcription factors (EHF and MED1), two components of the NF-κB pathway (RASSF2 and RNF114), one gene involved in adhesion and endothelial migration (CNTN6) and two genes involved in antigen presentation (BIN1 and SEC61G). In addition, the strongly significant association of multiple single-nucleotide polymorphisms (SNPs) in the HLA region was assigned to HLA alleles and serotypes and deconvoluted into four primary signals. The novel SLE-associated genes point to new directions for both the diagnosis and treatment of this debilitating autoimmune disease.
  • Published In

  • Genes and Immunity  Journal
  • Digital Object Identifier (doi)

    Author List

  • Armstrong DL; Zidovetzki R; Alarcón-Riquelme ME; Tsao BP; Criswell LA; Kimberly RP; Harley JB; Sivils KL; Vyse TJ; Gaffney PM
  • Start Page

  • 347
  • End Page

  • 354
  • Volume

  • 15
  • Issue

  • 6