THE IMPACT OF THE D727E POLYMORPHISM HAS NO SIGNIFICANT ROLE IN MULTI NODULAR GOITER
Tug E1,*, Sengül N2, Aydin H3, Yilmaz EE2
*Corresponding Author: Esra Tug, M.D., Ph.D., Gazi University, Faculty of Medicine, Department of Medical Genetics, 06500 Ankara, Turkey; Tel.: +90-312-202-69-44; Fax: +90-312-202-46-35; E-mail: esratug@hotmail.com
page: 67

REFERENCES

1 Gabriel EM, Bergert ER, Grant CS, Van Heerden JA, Thompson GB, Morris JC. Germline polymorphism of codon 727 of human thyroid-stimulating hormone receptor is associated with toxic multinodular goiter. J Clin Endocrinol Metab. 1999; 84(9): 3328-3335. 2. Derwahl M, Studer H. Nodular goiter and goiter nodules: where iodine deficiency falls short of explaining the facts. Exp Clin Endocrinol Diabetes. 2001; 109(5): 250-260. 3. Paschke R. Molecular pathogenesis of nodular goiter. Langenbecks Arch Surg. 2011; 396(8): 1127-1136. 4. Hay ID, Morris JC. Toxic adenoma and toxic multinodular goiter. In: Braverman LE, Utiger RD, Eds. Werner and Ingbar’s the Thyroid. Philadelphia: Lippincott-Raven. 1996:566-572. 5. Hamburger JI. The autonomously functioning thyroid nodule: Goetsch’s disease. Endocr Rev. 1987; 8(4): 439-450. 6. Tonacchera M, Pinchera A. Thyrotropin receptor polymorphisms and thyroid diseases. J Clin Endocrinol Metab. 2000; 85(8): 2637-2639. 7. Hansen PS, van der Deure WM, Peeters RP, Iachine I, Fenger M, Sørensen TI, Kyvik KO, Visser TJ, Hegedüs L. The impact of a TSH receptor gene polymorphism on thyroid-related phenotypes in a healthy Danish twin population. Clin Endocrinol. 2007; 66(6): 827-832. 8. Rousseau-Merck MF, Misrahi M, Loosfelt H, Atger M, Milgrom E, Berger R. Assignment of the human thyroid stimulating hormone receptor (TSHR) gene to chromosome 14q31. Genomics. 1990; 8(2): 233-236. 9. Akamizu T. Antithyrotropin receptor antibody: an update. Thyroid. 2001; 11(12): 1123-1134. 10. Sykiotis GP, Neumann S, Georgopoulos NA, Sgourou A, Papachatzopoulou A, Markou KB, Kyriazopoulou V, Paschke R, Vagenakis AG, Papavassiliou AG. Functional significance of the thyrotropin receptor germline polymorphism D727E. Biochem Biophys Res Commun. 2003; 301(4): 1051-1056. 11. Musa M, Harun F, Mat Junit S. Molecular analysis of the thyroid stimulating hormone receptor gene in unrelated patients with congenital hypothyroidism. Asia Pac J Mol Biol Biotechnol. 2008; 16(3): 65-69. 12. Gozu H, Avsar M, Bircan R, Claus M, Sahin S, Sezgin O, Deyneli O, Paschke R, Cirakoglu B, Akalin S. Two novel mutations in the sixth transmembrane segment of the thyrotropin receptor gene causing hyperfunctioning thyroid nodules. Thyroid. 2005; 15(4): 389-397. 13. Muhlberg T, Herrmann K, Joba W, Kirchberger M, Heberling HJ, Heufelder AE. Lack of association of nonautoimmune hyperfunctioning thyroid disorders and a germ line polymorphism of codon 727 of the human thyrotropin receptor in a European Caucasian population. J Clin Endocrinol Metab. 2000; 85(8): 2640-2643.



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