title: Increased loss of the Y chromosome in peripheral blood cells in male patients with autoimmune thyroiditis.
abstract: Multiple mechanisms have been proposed to explain the peculiar distribution of autoimmune thyroiditis (AIT) among women and men. Most attention has been focused on the detection of the role of estrogens and the X chromosome. Specifically, a potential role for X haploinsufficiency has been proposed in the female patient population and an association with the disease has been confirmed. 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 AIT (n=31) and healthy controls (n=88) to define a potential association of disease and the loss of the Y chromosome. Y chromosome loss increases in AIT compared to unaffected subjects; these phenomenon increases with aging as expected, however, the degree of loss is significantly increased in the patient population compared to the healthy controls. 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 AIT. We propose that this commonality might represent a relevant feature in the etiopathogenesis of AIT that should be further investigated.
authors.affiliation: Laboratorio di Ricerche Endocrino-Metaboliche, IRCCS Istituto Auxologico Italiano, Milan, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Persani
authors.forename: Marco
authors.initials: M
authors.lastname: Bonomi
authors.forename: Ana
authors.initials: A
authors.lastname: Lleo
authors.forename: Simone
authors.initials: S
authors.lastname: Pasini
authors.forename: Fabiola
authors.initials: F
authors.lastname: Civardi
authors.forename: Ilaria
authors.initials: I
authors.lastname: Bianchi
authors.forename: Irene
authors.initials: I
authors.lastname: Campi
authors.forename: Palma
authors.initials: P
authors.lastname: Finelli
authors.forename: Monica
authors.initials: M
authors.lastname: Miozzo
authors.forename: Chiara
authors.initials: C
authors.lastname: Castronovo
authors.forename: Silvia
authors.initials: S
authors.lastname: Sirchia
authors.forename: M Eric
authors.initials: ME
authors.lastname: Gershwin
authors.forename: Pietro
authors.initials: P
authors.lastname: Invernizzi
mesh_terms: D000367:Age Factors; D001773:Blood Cells / Q000378:metabolism*; D016022:Case-Control Studies; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D005260:Female; D006801:Humans; D008297:Male; D012737:Sex Factors; D013967:Thyroiditis, Autoimmune / Q000235:genetics* / Q000276:immunology