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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DISCUSSION
We screened the p.D727E polymorphism of the
TSHR gene, a predisposition factor causing MNG.
The statistical analysis of our data did not show a
direct relationship between the p.D727E polymorphism
and non toxic MNG in our groups. Clearly,
the presence of the p.D727E polymorphism in the
TSHR gene is not sufficient for the development of
nodular goiter, because, according to our results, appolymorphism. In addition, despite a small number
of patients, there was no correlation between the
polymorphism and toxic MNG, however, frequency
of polymorphism is associated with low TSH level.
Gabriel et al. [1] indicated that a p.D727E polymorphism
of the human TSHR gene was significantly
associated with toxic MNG. They argued that altered
intracellular signaling of the variant receptor after
stimulation by TSH might participate in the pathogenesis
of toxic MNG. However, Gabriel et al. [1]
reported that the presence of the heterozygous state
for the p.D727E polymorphism of the TSHR gene
was not solely responsible for the development of
the disease, and that this variant existed in approximately
10.0% of normal individuals. This rate was
higher than that in our control group. Also, Gozu et
al. [12] reported similar geographic differences in the
prevalence of the TSHR polymorphisms.
Thyrotropin receptor polymorphisms and thyroid
hyper functioning after the first identification
is still an unresolved question. Muhlberg et al. [13]
studied the frequency of the polymorphism p.D727E
in a large group of patients with non autoimmune
hyper functioning thyroid disorders in a European
Caucasian population. They demonstrate that there
is no association with the gene polymorphism with
toxic goiter. However, the presence of the TSHR polymorphism
may predispose to hyper functioning, but
in abnormal growth and nodular goiter pathogenesis,
other genetic or environmental factors may be effective.
However, in cases of less functional impairment,
a contribution of variants of this gene in the etiology
of non toxic goiter is possible.
In conclusion, taking into consideration the fact
that the p.D727E TSHR variant is frequently detected
in the general population, it would seem that it represents
a simple polymorphism and probably is not
involved in the development of thyroid diseases.
However, positive family history of MNG in 65.0%
of our patients suggests that there may be another
related gene or genes responsible for the development
of MNG in our population. This is the first study of
the p.D727E polymorphism in Turkish patients with
MNG. According to our data, the p.D727E variant
is frequently detected in the general population; it
would seem that it represents a plain polymorphism
and is probably not involved in the development of
structural thyroid disease. Further studies are necessary
to examine factors that orchestrate thyroid
nodular transformations, and which genetic traits are
associated with this process.
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