X monosomy in female systemic lupus erythematosus.
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.
Invernizzi
Pietro
P
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
Miozzo
Monica
M
Oertelt-Prigione
Sabine
S
Meroni
Pier Luigi
PL
Persani
Luca
L
Selmi
Carlo
C
Battezzati
Pier Maria
PM
Zuin
Massimo
M
Lucchi
Simona
S
Marasini
Bianca
B
Zeni
Silvana
S
Watnik
Mitchell
M
Tabano
Silvia
S
Maitz
Silvia
S
Pasini
Simone
S
Gershwin
M Eric
ME
Podda
Mauro
M
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*