Is the TSHR D727E polymorphism a genetic predisposition for multinodular goiter in the Turkish population?

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dc.authorid0000-0001-5291-8620
dc.authorscopusid16241650400
dc.authorscopusid57190948701
dc.authorscopusid57190942272
dc.authorscopusid57226264250
dc.authorscopusid16302402600
dc.authorscopusid57190950157
dc.authorscopusid57220351063
dc.authorwosidBircan, Rıfat/A-7344-2018
dc.contributor.authorGözü, Hülya İliksu
dc.contributor.authorÖzçelik, S.
dc.contributor.authorAloglu, M.
dc.contributor.authorŞahin, A.
dc.contributor.authorTemiz, S.
dc.contributor.authorDayan, A.
dc.contributor.authorBircan, Rifat
dc.date.accessioned2022-05-11T14:28:34Z
dc.date.available2022-05-11T14:28:34Z
dc.date.issued2016
dc.departmentFakülteler, Fen Edebiyat Fakültesi, Biyoloji Bölümü
dc.description.abstractThe D727E germline polymorphism in the thyroid-stimulating hormone receptor gene (TSHR) may cause genetic susceptibility to the development of goiter. Therefore, in this study we investigated allele frequencies and genotype distributions of the TSHR D727E polymorphism, their association with clinical parameters, and the development of goiter in the Turkish population. We investigated the TSHR D727E polymorphism in 123 patients and 97 healthy subjects using the polymerase chain reaction-restriction fragment length polymorphism technique. Peripheral blood was used for DNA extraction. Although no significant difference was found in TSHR D727E polymorphism frequencies between the patients with nodular goiters (26/123 patients, 21.1%) and the controls (12/97 patients, 12.4%) (P = 0.107), the frequency of the TSHR D727E polymorphism in the hyperthyroid+ subclinical hyperthyroid patient groups (23%) was significantly higher than in the control subjects (12.4%) (P = 0.024). In this study, nodular goiter presented significantly earlier in GC genotype patients (mean age 35 years) than in CC genotype patients (mean age 42 years) in the hyperthyroid group (P = 0.009). More importantly, TSH levels in the GC variant controls were closely significant lower (1.26 +/- 0.49) than in the CC variant controls (1.74 +/- 0.84) (P = 0.053). The TSHR D727E polymorphism might be involved in the pathogenesis of toxic multinodular goiter (TMNG). Moreover, this polymorphism might be an indication of early-onset TMNG. However, development of MNG is multifactorial. Therefore, further case-control studies with larger populations are required to verify these observations.
dc.identifier.doi10.4238/gmr.15038504
dc.identifier.issn1676-5680
dc.identifier.issue3en_US
dc.identifier.pmid27525921
dc.identifier.scopus2-s2.0-84984604262
dc.identifier.scopusqualityQ4
dc.identifier.urihttps://doi.org/10.4238/gmr.15038504
dc.identifier.urihttps://hdl.handle.net/20.500.11776/6872
dc.identifier.volume15
dc.identifier.wosWOS:000384881300073
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorBircan, Rifat
dc.language.isoen
dc.publisherFunpec-Editora
dc.relation.ispartofGenetics and Molecular Research
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectThyroid
dc.subjectToxic MNG
dc.subjectTSHR D727E
dc.subjectPolymorphism
dc.subjectStimulating Hormone-Receptor
dc.subjectHuman Thyrotropin Receptor
dc.subjectFamilial Euthyroid Goiter
dc.subjectGermline Polymorphism
dc.subjectThyroid-Diseases
dc.subjectGraves-Disease
dc.subjectMutations
dc.subjectAdolescents
dc.subjectTwin
dc.subjectAssociation
dc.titleIs the TSHR D727E polymorphism a genetic predisposition for multinodular goiter in the Turkish population?
dc.typeArticle

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