Female predominance and X chromosome defects in autoimmune diseases

Pietro Invernizzi; Simone Pasini; Carlo Selmi; M. Eric Gershwin; Mauro Podda

doi:10.1016/j.jaut.2009.03.005

Female predominance and X chromosome defects in autoimmune diseases

Pietro Invernizzi, Simone Pasini, Carlo Selmi, M. Eric Gershwin, Mauro Podda

Istituto Clinico Humanitas

Research output: Contribution to journal › Article › peer-review

Abstract

It is known that autoimmune diseases cumulatively affect 5-10% of the general population. Although knowledge of pathogenesis has become more refined, laboratory diagnosis more accurate, and therapy more effective, the reasons for the female preponderance of these conditions remain unclear. The most intriguing theory to explain the female preponderance is currently related to sex chromosomes, as women with autoimmune diseases manifest a higher rate of circulating cells with a single X chromosome (i.e. X monosomy). In addition, there have been several reports on the role of X chromosome gene dosage through inactivation or duplication in autoimmunity. Taken together, sex chromosome changes might constitute the common trait of the susceptibility to autoimmune diseases.

Original language	English
Pages (from-to)	12-16
Number of pages	5
Journal	Journal of Autoimmunity
Volume	33
Issue number	1
DOIs	https://doi.org/10.1016/j.jaut.2009.03.005
Publication status	Published - Aug 2009

Keywords

Autoimmune disease
Etiopathogenesis
Female preponderance
Genetic factors
Sex chromosomes

ASJC Scopus subject areas

Immunology
Immunology and Allergy

Access to Document

10.1016/j.jaut.2009.03.005

Fingerprint Dive into the research topics of 'Female predominance and X chromosome defects in autoimmune diseases'. Together they form a unique fingerprint.

Cite this

@article{5e073796dfb14a1e9bf8cb053ddd9836,

title = "Female predominance and X chromosome defects in autoimmune diseases",

abstract = "It is known that autoimmune diseases cumulatively affect 5-10% of the general population. Although knowledge of pathogenesis has become more refined, laboratory diagnosis more accurate, and therapy more effective, the reasons for the female preponderance of these conditions remain unclear. The most intriguing theory to explain the female preponderance is currently related to sex chromosomes, as women with autoimmune diseases manifest a higher rate of circulating cells with a single X chromosome (i.e. X monosomy). In addition, there have been several reports on the role of X chromosome gene dosage through inactivation or duplication in autoimmunity. Taken together, sex chromosome changes might constitute the common trait of the susceptibility to autoimmune diseases.",

keywords = "Autoimmune disease, Etiopathogenesis, Female preponderance, Genetic factors, Sex chromosomes",

author = "Pietro Invernizzi and Simone Pasini and Carlo Selmi and Gershwin, {M. Eric} and Mauro Podda",

year = "2009",

month = aug,

doi = "10.1016/j.jaut.2009.03.005",

language = "English",

volume = "33",

pages = "12--16",

journal = "Journal of Autoimmunity",

issn = "0896-8411",

publisher = "Academic Press Inc.",

number = "1",

}

TY - JOUR

T1 - Female predominance and X chromosome defects in autoimmune diseases

AU - Invernizzi, Pietro

AU - Pasini, Simone

AU - Selmi, Carlo

AU - Gershwin, M. Eric

AU - Podda, Mauro

PY - 2009/8

Y1 - 2009/8

N2 - It is known that autoimmune diseases cumulatively affect 5-10% of the general population. Although knowledge of pathogenesis has become more refined, laboratory diagnosis more accurate, and therapy more effective, the reasons for the female preponderance of these conditions remain unclear. The most intriguing theory to explain the female preponderance is currently related to sex chromosomes, as women with autoimmune diseases manifest a higher rate of circulating cells with a single X chromosome (i.e. X monosomy). In addition, there have been several reports on the role of X chromosome gene dosage through inactivation or duplication in autoimmunity. Taken together, sex chromosome changes might constitute the common trait of the susceptibility to autoimmune diseases.

AB - It is known that autoimmune diseases cumulatively affect 5-10% of the general population. Although knowledge of pathogenesis has become more refined, laboratory diagnosis more accurate, and therapy more effective, the reasons for the female preponderance of these conditions remain unclear. The most intriguing theory to explain the female preponderance is currently related to sex chromosomes, as women with autoimmune diseases manifest a higher rate of circulating cells with a single X chromosome (i.e. X monosomy). In addition, there have been several reports on the role of X chromosome gene dosage through inactivation or duplication in autoimmunity. Taken together, sex chromosome changes might constitute the common trait of the susceptibility to autoimmune diseases.

KW - Autoimmune disease

KW - Etiopathogenesis

KW - Female preponderance

KW - Genetic factors

KW - Sex chromosomes

UR - http://www.scopus.com/inward/record.url?scp=67349085696&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=67349085696&partnerID=8YFLogxK

U2 - 10.1016/j.jaut.2009.03.005

DO - 10.1016/j.jaut.2009.03.005

M3 - Article

C2 - 19356902

AN - SCOPUS:67349085696

VL - 33

SP - 12

EP - 16

JO - Journal of Autoimmunity

JF - Journal of Autoimmunity

SN - 0896-8411

IS - 1

ER -