Polymorphism of immunoglobulin enhancer element HS1,2A: Allele *2 associates with systemic sclerosis. Comparison with HLA-DR and DQ allele frequency

D. Frezza, V. Giambra, B. Tolusso, M. De Santis, S. Bosello, S. Vettori, G. Triolo, G. Valentini, G. F. Ferraccioli

Research output: Contribution to journalArticlepeer-review

Abstract

Objective: To investigate the relationship of the polymorphic enhancer HS1,2 central to the 3′ enhancer complex regulatory region (IgH3′EC) of the immunoglobulin heavy chain genes with systemic sclerosis (SSc) disease and compare it with HLA-DR and DQ associations. Methods: A total of 116 patients with SSc were classified as diffuse (dSSc) or limited (lSSc), and as carriers of antitopoisomerase I (anti-Scl70) or anticentromere (ACA) antibodies. Allele and genotype frequencies were assessed in the population as a whole and in the two major subsets, dSSc and lSSc. The concentration of peripheral blood immunoglobulin levels was also determined and analysed according to the genotypes. Results: The analysis of genotypes for the four alleles of the HS1,2A enhancer showed an increased frequency of allele *2 in the SSc cohort highly significant versus controls (57% vs. 40%, p

Original languageEnglish
Pages (from-to)1210-1215
Number of pages6
JournalAnnals of the Rheumatic Diseases
Volume66
Issue number9
DOIs
Publication statusPublished - Sep 2007

ASJC Scopus subject areas

  • Rheumatology
  • Immunology

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