TY - JOUR
T1 - Y chromosome loss in male patients with primary biliary cirrhosis
AU - Lleo, Ana
AU - Oertelt-Prigione, Sabine
AU - Bianchi, Ilaria
AU - Caliari, Lisa
AU - Finelli, Palma
AU - Miozzo, Monica
AU - Lazzari, Roberta
AU - Floreani, Annarosa
AU - Donato, Francesca
AU - Colombo, Massimo
AU - Gershwin, M. Eric
AU - Podda, Mauro
AU - Invernizzi, Pietro
PY - 2013/3
Y1 - 2013/3
N2 - Sex chromosome abnormalities have been advocated to be involved in the striking female prevalence of primary biliary cirrhosis (PBC) and women with PBC manifest an increased X chromosome loss in peripheral blood mononuclear cells compared to age-matched healthy women. Our knowledge of the etiopathogenesis of autoimmunity in male patients remains, however, limited. Next to the possible role of androgens and their imbalances, the Y chromosome appears as a potential candidate for influence of the immune function in men. Herein we analyzed a population of male patients with primary biliary cirrhosis (n = 26) and healthy controls (n = 88) to define a potential association of disease and the loss of the Y chromosome. We demonstrate that Y chromosome loss indeed is higher in PBC males compared to healthy controls, and this phenomenon increases with aging. We were, thus, able to confirm the existence of an analogous mechanism in the male population to previously identified X haploinsufficiency in female patients with organ-specific autoimmune disease. We propose that this commonality might represent a relevant feature in the etiopathogenesis of autoimmune diseases that should be further investigated.
AB - Sex chromosome abnormalities have been advocated to be involved in the striking female prevalence of primary biliary cirrhosis (PBC) and women with PBC manifest an increased X chromosome loss in peripheral blood mononuclear cells compared to age-matched healthy women. Our knowledge of the etiopathogenesis of autoimmunity in male patients remains, however, limited. Next to the possible role of androgens and their imbalances, the Y chromosome appears as a potential candidate for influence of the immune function in men. Herein we analyzed a population of male patients with primary biliary cirrhosis (n = 26) and healthy controls (n = 88) to define a potential association of disease and the loss of the Y chromosome. We demonstrate that Y chromosome loss indeed is higher in PBC males compared to healthy controls, and this phenomenon increases with aging. We were, thus, able to confirm the existence of an analogous mechanism in the male population to previously identified X haploinsufficiency in female patients with organ-specific autoimmune disease. We propose that this commonality might represent a relevant feature in the etiopathogenesis of autoimmune diseases that should be further investigated.
KW - Autoimmunity
KW - Primary biliary cirrosis
KW - Y chromosome
UR - http://www.scopus.com/inward/record.url?scp=84875965690&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84875965690&partnerID=8YFLogxK
U2 - 10.1016/j.jaut.2012.12.008
DO - 10.1016/j.jaut.2012.12.008
M3 - Article
C2 - 23375847
AN - SCOPUS:84875965690
VL - 41
SP - 87
EP - 91
JO - Journal of Autoimmunity
JF - Journal of Autoimmunity
SN - 0896-8411
ER -