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.

X monosomy in female systemic lupus erythematosus / P. Invernizzi, M.R. Miozzo, S. Oertelt-Prigione, P.L. Meroni, L. Persani, C. Selmi, P.M. Battezzati, M. Zuin, S. Lucchi, B. Marasini, S. Zeni, M. Watnik, S. Tabano, S. Maitz, S. Pasini, M.E. Gershwin, M. Podda. - In: ANNALS OF THE NEW YORK ACADEMY OF SCIENCES. - ISSN 0077-8923. - 1110:(2007), pp. 84-91. ((Intervento presentato al 5. convegno International Congress on Autoimmunity tenutosi a Sorrento nel 2006 [10.1196/annals.1423.010].

X monosomy in female systemic lupus erythematosus

P. Invernizzi
;
M.R. Miozzo
Secondo
;
P.L. Meroni;L. Persani;C. Selmi;P.M. Battezzati;M. Zuin;B. Marasini;S. Tabano;M. Podda
Ultimo
2007

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.
AITD; autoimmune thyroiditis; PBC; primary biliary cirrhosis; systemic lupus erythematosus; SLE; X monosomy
Settore MED/13 - Endocrinologia
Settore MED/03 - Genetica Medica
Settore MED/16 - Reumatologia
Settore MED/09 - Medicina Interna
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/33749
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