X monosomy in female systemic lupus erythematosus

Pietro Invernizzi, Monica Miozzo, Sabine Oertelt-Prigione, Pier Luigi Meroni, Luca Persani, Carlo Selmi, Pier Maria Battezzati, Massimo Zuin, Simona Lucchi, Bianca Marasini, Silvana Zeni, Mitchell Watnik, Silvia Tabano, Silvia Maitz, Simone Pasini, M. Eric Gershwin, Mauro Podda

Research output: Chapter in Book/Report/Conference proceedingConference contribution


Systemic lupus erythematosus (SLE) is a systemic autoimmune disease, predominantly occurring in women of childbearing age. SLE, like several other autoimmune diseases, is characterized by a striking female predominance and, although sex hormone influences have been suggested as an explanation for this phenomenon, definitive data are still unavailable. Our group recently reported an increased X monosomy in lymphocytes of women, affected with primary biliary cirrhosis (PBC), systemic sclerosis (SSc), and autoimmune thyroiditis (AITD) in comparison to healthy women, thus suggesting the involvement of this chromosome in female predominance and in the deregulation of the immune system that characterizes autoimmunity. We have no we valuated X monosomy rates in SLE using fluorescence in situ hybridization (FISH) on peripheral mononuclear white blood cells (PBMCs) from female patients compared to healthy age-matched controls. In addition, because of a previous finding of microchimerism as a pathogenetic cause of a number of autoimmune diseases, we investigated the presence of cells carrying the Y chromosome. We did not identify an increased X monosomy in women with SLE compared to controls (P = 0.3960, SLE vs. HCs, Student's ttest), thus suggesting that a different mechanism of immune deregulation might be predominant in the female population of patients with SLE.

Original languageEnglish
Title of host publicationAnnals of the New York Academy of Sciences
Number of pages8
Publication statusPublished - Sept 2007

Publication series

NameAnnals of the New York Academy of Sciences
ISSN (Print)00778923
ISSN (Electronic)17496632


  • AITD
  • Autoimmune thyroiditis
  • PBC
  • Primary biliary cirrhosis
  • SLE
  • Systemic lupus erythematosus
  • X monosomy

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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