Polymorphisms of the IgH enhancer HS1.2 and risk of systemic lupus erythematosus

Domenico Frezza, Barbara Tolusso, Vincenzo Giambra, Elisa Gremese, Maurizio Marchini, Marcin Nowik, Eliseo Serone, Pietro D'Addabbo, Claudia Mattioli, Silvia Canestri, Luca Petricca, Graziella D'Antona, Barbara K. Birshtein, Raffaella Scorza, Gianfranco Ferraccioli

Research output: Contribution to journalArticlepeer-review

Abstract

Objective: To determine whether the allelic frequency variation of the HS1.2 enhancer of the immunoglobulin heavy chain (IgH) 3′ regulatory region (3′RR-1) locus represents a risk factor for systemic lupus erythematosus (SLE) and to identify a possible functional difference in the two most frequent alleles (*1 and*2) in binding nuclear factor- κB (NF-κB) and Sp1. Methods: The frequency of the enhancer HS1.2 alleles was determined in two cohorts of patients with SLE (n=293) and in 1185 controls. Electrophoretic mobility shift assays (EMSA) were carried out with B cell nuclear extracts with different probes of HS1.2 alleles*1 and*2 to map the consensus binding sites of the nuclear factors. A confirmatory cohort of 121 patients with SLE was also included. Results: The frequency of allele*2 of the HS1.2 enhancer was significantly increased in patients with SLE compared with controls (OR 1.60, 95% CI 1.33 to 1.92, p

Original languageEnglish
Pages (from-to)1309-1315
Number of pages7
JournalAnnals of the Rheumatic Diseases
Volume71
Issue number8
DOIs
Publication statusPublished - Aug 2012

ASJC Scopus subject areas

  • Rheumatology
  • Immunology
  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Allergy

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