Invernizzi Pietro, Pasini Simone, Selmi Carlo, Gershwin M Eric, Podda Mauro
Division of Internal Medicine and Hepatobiliary Immunopathology Unit, IRCCS Istituto Clinico Humanitas, Milan, Italy.
J Autoimmun. 2009 Aug;33(1):12-6. doi: 10.1016/j.jaut.2009.03.005. Epub 2009 Apr 7.
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.
众所周知，自身免疫性疾病累计影响5%至10%的普通人群。尽管对发病机制的认识更加精细，实验室诊断更加准确，治疗也更加有效，但这些疾病女性居多的原因仍不清楚。目前，解释女性居多现象最引人关注的理论与性染色体有关，因为患有自身免疫性疾病的女性表现出较高比例的具有单个X染色体的循环细胞（即X单体）。此外，已有多篇报道阐述了X染色体基因剂量通过失活或复制在自身免疫中的作用。综上所述，性染色体变化可能构成自身免疫性疾病易感性的共同特征。
