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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Abstract
Interactions between individual genetic and environ-
mental factors determine the onset of the multi
nodular goiter (MNG). The thyroid-stimulating hormone
receptor (TSHR) gene is a convincing candidate
gene in the pathogenesis of certain thyroid diseases
including MNG. We investigated the codon 727 polymorphism
(p.Asp727Glu, p.D727E) of the human
TSHR gene using the polymerase chain reaction-restriction
fragment length polymorphim (PCR-RFLP)
methods in 31 Turkish patients with MNG and in 30
control subjects, aiming to evaluate the relationship
between this polymorphism and MNG. After genomic
DNA isolation, PCR amplification was performed using
a pair of primers in exon 10 of the TSHR gene that
contains the p.D727E polymorphism and digested by
theNlaIII (Hin1II) restriction enzyme. We found the
CC and CG genotype incidence for the patient group
to be 0.71 and 0.29, respectively, and for the control
group to be 0.8 and 0.2, respectively. No statistically
significant difference was found between the genotype
and allele distribution of both groups (p = 0.417
and p = 0.449, respectively). However, the polymorphism
is significantly correlated with the low serum
level of the TSH (p = 0.047). These results suggest
that the p.D727E polymorphism of the TSHR gene
may not contribute to the pathogenesis of nontoxic
MNG diseases.
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