{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T13:33:55Z","timestamp":1787319235366,"version":"build-2736575974"},"reference-count":69,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,4,15]],"date-time":"2022-04-15T00:00:00Z","timestamp":1649980800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Myasthenia gravis (MG) is a neuromuscular autoimmune disease characterized by prevalence in young women (3:1). Several mechanisms proposed as explanations for gender bias, including skewed X chromosome inactivation (XCI) and dosage or sex hormones, are often involved in the development of autoimmunity. The skewed XCI pattern can lead to an unbalanced expression of some X-linked genes, as observed in several autoimmune disorders characterized by female predominance. No data are yet available regarding XCI and MG. We hypothesize that the preferential XCI pattern may contribute to the female bias observed in the onset of MG, especially among younger women. XCI analysis was performed on blood samples of 284 women between the ages of 20 and 82. XCI was tested using the Human Androgen Receptor Assay (HUMARA). XCI patterns were classified as random (XCI &lt; 75%) and preferential (XCI \u2265 75%). In 121 informative patients, the frequency of skewed XCI patterns was 47%, significantly higher than in healthy controls (17%; p \u2264 0.00001). Interestingly, the phenomenon was observed mainly in younger patients (&lt;45 years; p \u2264 0.00001). Furthermore, considering the XCI pattern and the other clinical characteristics of patients, no significant differences were found. In conclusion, we observed preferential XCI in MG female patients, suggesting its potential role in the aetiology of MG, as observed in other autoimmune diseases in women.<\/jats:p>","DOI":"10.3390\/genes13040696","type":"journal-article","created":{"date-parts":[[2022,4,16]],"date-time":"2022-04-16T07:42:41Z","timestamp":1650094961000},"page":"696","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Preferential X Chromosome Inactivation as a Mechanism to Explain Female Preponderance in Myasthenia Gravis"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2751-7352","authenticated-orcid":false,"given":"Vanessa","family":"Nicol\u00ec","sequence":"first","affiliation":[{"name":"Department of Translational Research and of New Surgical and Medical Technologies, Medical School, University of Pisa, 56126 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5260-6691","authenticated-orcid":false,"given":"Silvia Maria","family":"Tabano","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Transplantation, Medical Genetics, University of Milan, 20122 Milan, Italy"},{"name":"Laboratory of Medical Genetics, Ca\u2019 Granda Foundation, Policlinico Hospital, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Colapietro","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Transplantation, Medical Genetics, University of Milan, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelangelo","family":"Maestri","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Ricciardi","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy"},{"name":"Division of Thoracic Surgery, Department of Surgical, Medical and Molecular Pathology, University of Pisa, 56126 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6768-8466","authenticated-orcid":false,"given":"Andrea","family":"Stoccoro","sequence":"additional","affiliation":[{"name":"Department of Translational Research and of New Surgical and Medical Technologies, Medical School, University of Pisa, 56126 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9517-6997","authenticated-orcid":false,"given":"Laura","family":"Fontana","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melania","family":"Guida","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Miozzo","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Copped\u00e8","sequence":"additional","affiliation":[{"name":"Department of Translational Research and of New Surgical and Medical Technologies, Medical School, University of Pisa, 56126 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Migliore","sequence":"additional","affiliation":[{"name":"Department of Translational Research and of New Surgical and Medical Technologies, Medical School, University of Pisa, 56126 Pisa, Italy"},{"name":"Department of Laboratory Medicine, University Hospital of Pisa, 56124 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,4,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1097\/BOR.0000000000000564","article-title":"Sex bias in autoimmunity","volume":"31","author":"Billi","year":"2019","journal-title":"Curr. 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