دورية أكاديمية
Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity
| العنوان: | Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity |
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| المؤلفون: | Ozcelik, T., Uz, E., Akyerli, C.B., Bagislar, S., Mustafa, C.A., Gursoy, A., Akarsu, N., Toruner G., Kamel, N., Gullu, S. |
| المصدر: | European Journal of Human Genetics |
| سنة النشر: | 2006 |
| المجموعة: | Bilkent University: Institutional Repository |
| مصطلحات موضوعية: | Autoimmune thyroid disease, Female predisposition to autoimmunity, X chromosome inactivation, androgen receptor, type II site specific deoxyribonuclease, adult, article, autoimmunity, biopsy, blood cell, cheek mucosa, controlled study, DNA extraction, evidence based medicine, familial disease, female, gene locus, genetic predisposition, Graves disease, hair follicle, Hashimoto disease, human, human cell, human tissue, major clinical study, pathogenesis, pathophysiology, polymerase chain reaction, priority journal, sex chromosome mosaicism |
| الوصف: | The etiologic factors in the development of autoimmune thyroid diseases (AITDs) are not fully understood. We investigated the role of skewed X-chromosome inactivation (XCI) mosaicism in female predisposition to AITDs. One hundred and ten female AITDs patients (81 Hashimoto's thyroiditis (HT), 29 Graves' disease (GD)), and 160 female controls were analyzed for the androgen receptor locus by the HpaII/polymerase chain reaction assay to assess XCI patterns in DNA extracted from peripheral blood cells. In addition, thyroid biopsy, buccal mucosa, and hair follicle specimens were obtained from five patients whose blood revealed an extremely skewed pattern of XCI, and the analysis was repeated. Skewed XCI was observed in DNA from peripheral blood cells in 28 of 83 informative patients (34%) as compared with 10 of 124 informative controls (8% P<0.0001). Extreme skewing was present in 16 patients (19%), but only in three controls (2.4% P<60;0.0001). The buccal mucosa, and although less marked, the thyroid specimens also showed skewing. Analysis of two familial cases showed that only the affected individuals demonstrate skewed XCI patterns. Based on these results, skewed XCI mosaicism may play a significant role in the pathogenesis of AITDs. © 2006 Nature Publishing Group. All rights reserved. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 10184813 |
| العلاقة: | http://dx.doi.org/10.1038/sj.ejhg.5201614Test; http://hdl.handle.net/11693/23788Test |
| DOI: | 10.1038/sj.ejhg.5201614 |
| الإتاحة: | https://doi.org/10.1038/sj.ejhg.5201614Test http://hdl.handle.net/11693/23788Test |
| رقم الانضمام: | edsbas.585E1D10 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 10184813 |
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| DOI: | 10.1038/sj.ejhg.5201614 |