title: X monosomy in female systemic lupus erythematosus.
abstract: 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 now evaluated 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 t-test), thus suggesting that a different mechanism of immune deregulation might be predominant in the female population of patients with SLE.
authors.affiliation: Division of Internal Medicine and Liver Unit, Department of Medicine, Surgery and Dentistry, San Paolo Hospital School of Medicine, University of Milan, Via di Rudinì 8, 20142 Milan, Italy. pietro.invernizzi@unimi.it
authors.forename: Pietro
authors.initials: P
authors.lastname: Invernizzi
authors.forename: Monica
authors.initials: M
authors.lastname: Miozzo
authors.forename: Sabine
authors.initials: S
authors.lastname: Oertelt-Prigione
authors.forename: Pier Luigi
authors.initials: PL
authors.lastname: Meroni
authors.forename: Luca
authors.initials: L
authors.lastname: Persani
authors.forename: Carlo
authors.initials: C
authors.lastname: Selmi
authors.forename: Pier Maria
authors.initials: PM
authors.lastname: Battezzati
authors.forename: Massimo
authors.initials: M
authors.lastname: Zuin
authors.forename: Simona
authors.initials: S
authors.lastname: Lucchi
authors.forename: Bianca
authors.initials: B
authors.lastname: Marasini
authors.forename: Silvana
authors.initials: S
authors.lastname: Zeni
authors.forename: Mitchell
authors.initials: M
authors.lastname: Watnik
authors.forename: Silvia
authors.initials: S
authors.lastname: Tabano
authors.forename: Silvia
authors.initials: S
authors.lastname: Maitz
authors.forename: Simone
authors.initials: S
authors.lastname: Pasini
authors.forename: M Eric
authors.initials: ME
authors.lastname: Gershwin
authors.forename: Mauro
authors.initials: M
authors.lastname: Podda
mesh_terms: D000328:Adult; D017677:Age Distribution; D000368:Aged; D000369:Aged, 80 and over; D046528:Chimerism; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D007958:Leukocyte Count; D007962:Leukocytes / Q000378:metabolism; D008180:Lupus Erythematosus, Systemic / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D009006:Monosomy / Q000235:genetics*