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
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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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