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

INTRODUCTION

Goiter is the volumetric enlargement of the thyroid gland [1]. Benign nodular goiter is a heterogenous thyroid disorder. It can be divided into solitary nodular and multi nodular thyroid disease. Multi nodular goiter (MNG) constitutes a mixed group of nodular entities. Structural and functional heterogeneity is the most characteristic feature of MNG [2,3]. The term toxic MNG comprises a spectrum of clinical entities, ranging from a single hyper functioning nodule within an enlarged thyroid gland that also contains non functioning nodules, to multiple hyper functioning areas scattered throughout the gland [4,5]. The thyroid-stimulating hormone (TSH, thyrotropin) controls thyroid function and growth. Its receptor (TSHR) activates the α subunit of the stimulatory G protein (Gsα), leading to adenylate cyclase (AC) activation and cyclic AMP (cAMP) production [6,7]. The TSHR gene, located on chromosome 14q31, has been cloned and sequenced [8]. Polymorphisms have been detected in TSHR exon 10 [9,10]. The diallelic polymorphism in which a cytosine/ guanine base transition occurs at nucleotide position 2281 within codon 727 (c.2281 C>G), results in the substitution of glutamic acid for aspartic acid (p.Asp727Glu; p.D727E) in the intracellular portion of the receptor, has been associated with toxic or non toxic MNG, the expression of the p.D727E variant in eukaryotic cells resulting in an exaggerated cAMP response to thyrotropin stimulation. After TSH stimulation of the polymorphic variant according to the wild type TSHR gene increased cAMP accumulation. Thus, p.D727E could induce growth and function of thyrocytes [1]. We have investigated the frequency of this p.D727E polymorphism in Turkish patients with MNG and in control subjects, aiming to evaluate the relationship between this polymorphism and MNG.



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