High frequency of skewed X-chromosome inactivation in females with autoimmune thyroid disease: a possible explanation for the female predisposition to thyroid autoimmunity.
作者： Thomas Heiberg Brix , Gun Peggy S. Knudsen , Marianne Kristiansen , Kirsten Ohm Kyvik , Karen Helene Ørstavik
DOI: 10.1210/JC.2005-1366
关键词: Internal medicine 、 Hashimoto Disease 、 Context (language use) 、 X-inactivation 、 Thyroid 、 Biology 、 Immunology 、 Graves' disease 、 Endocrinology 、 X chromosome 、 Thyroiditis 、 Skewed X-inactivation
摘要: Context: Autoimmune thyroid diseases (AITD) comprise Graves’ disease (GD) and Hashimoto’s thyroiditis (HT). They are characterized by loss of immunological self-tolerance female preponderance. Theoretically, X chromosome inactivation (XCI) resultant tissue chimerism could offer an explanation for the predisposition to AITD. Aim: Our aim was examine whether skewed XCI is associated with Designs: We first conducted a classical case-control study twin individuals without AITD, then pairs discordant Participants: Participants included 32 twins AITD control group 96 healthy individuals. Methods: analysis performed enzymatic predigestion DNA methylation-sensitive enzyme followed PCR polymorphic CAG repeat androgen receptor gene. The pattern classified as when 80% or more cells preferentially inactivated same chromosome. Main Outcome Mea...
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Cagatay Oktenli, Zeki Yesilova, Ismail Hakki Kocar, Ugur Musabak, Metin Ozata, Ali Inal, Davut Gül, Yavuz Sanisoglu, Study of Autoimmunity in Klinefelter's Syndrome and Idiopathic Hypogonadotropic Hypogonadism Journal of Clinical Immunology. ,vol. 22, pp. 137- 143 ,(2002) , 10.1023/A:1015467912592
H. Y. Zoghbi, Howard Rosenblatt, J. W. Belmont, A. B. Moseley, R. C. Allen, Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. American Journal of Human Genetics. ,vol. 51, pp. 1229- 1239 ,(1992)
Velia Trejo, Catherine Derom, Robert Vlietinck, William Ollier, Alan Silman, George Ebers, Robert Derom, Peter K. Gregersen, X chromosome inactivation patterns correlate with fetal-placental anatomy in monozygotic twin pairs: implications for immune relatedness and concordance for autoimmunity Molecular Medicine. ,vol. 1, pp. 62- 70 ,(1994) , 10.1007/BF03403532
Stewart Jj, Theory and treatment of the X-inactivation chimera in female-prevalent autoimmune disease. Archivum Immunologiae Et Therapiae Experimentalis. ,vol. 47, pp. 355- ,(1999)
Caroline C. Whitacre, Sex differences in autoimmune disease Nature Immunology. ,vol. 2, pp. 777- 780 ,(2001) , 10.1038/NI0901-777
Anthony P. Weetman, Determinants of autoimmune thyroid disease Nature Immunology. ,vol. 2, pp. 769- 770 ,(2001) , 10.1038/NI0901-769
Qirong Huang, Annette Parfitt, David M. Grennan, Nicholas Manolios, X-Chromosome Inactivation in Monozygotic Twins with Systemic Lupus Erythematosus Autoimmunity. ,vol. 26, pp. 85- 93 ,(1997) , 10.3109/08916939709003851
Joanita Monteiro, Catherine Derom, Robert Vlietinck, Nina Kohn, Martin Lesser, Peter K. Gregersen, Commitment to X Inactivation Precedes the Twinning Event in Monochorionic MZ Twins American Journal of Human Genetics. ,vol. 63, pp. 339- 346 ,(1998) , 10.1086/301978
Bryan McIver, John C. Morris, THE PATHOGENESIS OF GRAVES' DISEASE Endocrinology and Metabolism Clinics of North America. ,vol. 27, pp. 73- 89 ,(1998) , 10.1016/S0889-8529(05)70299-1
Thomas Heiberg Brix, Pia Skov Hansen, Kirsten Ohm Kyvik, Laszlo Hegedus, Aggregation of thyroid autoantibodies in first-degree relatives of patients with autoimmune thyroid disease is mainly due to genes: a twin study. Clinical Endocrinology. ,vol. 60, pp. 329- 334 ,(2004) , 10.1111/J.1365-2265.2004.01983.X