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...

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Published in:Annals of the New York Academy of Sciences 2007-09, Vol.1110 (1), p.84-91
Main Authors: INVERNIZZI, PIETRO, MIOZZO, MONICA, OERTELT-PRIGIONE, SABINE, MERONI, PIER LUIGI, PERSANI, LUCA, SELMI, CARLO, BATTEZZATI, PIER MARIA, ZUIN, MASSIMO, LUCCHI, SIMONA, MARASINI, BIANCA, ZENI, SILVANA, WATNIK, MITCHELL, TABANO, SILVIA, MAITZ, SILVIA, PASINI, SIMONE, GERSHWIN, M. ERIC, PODDA, MAURO
Format: Article
Language:English
Subjects:
Adult
Age Distribution
Aged
Aged, 80 and over
AITD
autoimmune thyroiditis
Chimerism
Chromosomes, Human, X - genetics
Female
Humans
Leukocyte Count
Leukocytes - metabolism
Lupus Erythematosus, Systemic - diagnosis
Lupus Erythematosus, Systemic - genetics
Middle Aged
Monosomy - genetics
PBC
primary biliary cirrhosis
SLE
systemic lupus erythematosus
X monosomy
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Summary::  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.
ISSN:0077-8923
1749-6632
DOI:10.1196/annals.1423.010