title: Y chromosome loss in male patients with primary biliary cirrhosis.
abstract: 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.
authors: Center for Autoimmune Liver Diseases, Humanitas Clinical and Research Center, Rozzano, MI, Italy.
authors: Ana
authors: A
authors: Lleo
authors: Sabine
authors: S
authors: Oertelt-Prigione
authors: Ilaria
authors: I
authors: Bianchi
authors: Lisa
authors: L
authors: Caliari
authors: Palma
authors: P
authors: Finelli
authors: Monica
authors: M
authors: Miozzo
authors: Roberta
authors: R
authors: Lazzari
authors: Annarosa
authors: A
authors: Floreani
authors: Francesca
authors: F
authors: Donato
authors: Massimo
authors: M
authors: Colombo
authors: M Eric
authors: ME
authors: Gershwin
authors: Mauro
authors: M
authors: Podda
authors: Pietro
authors: P
authors: Invernizzi
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D000375:Aging / Q000235:genetics / Q000276:immunology; D001323:Autoantibodies / Q000276:immunology; D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D057895:Haploinsufficiency / Q000235:genetics / Q000276:immunology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008105:Liver Cirrhosis, Biliary / Q000235:genetics* / Q000276:immunology*; D008297:Male; D008875:Middle Aged; D012729:Sex Chromosome Aberrations; D012737:Sex Factors
chemical_list: D001323:Autoantibodies