Is the TSHR D727E polymorphism a genetic predisposition for multinodular goiter in the Turkish population?
| Autor: | Hasret Cengiz, Serhat Özçelik, Hulya Iliksu Gozu, Rifat Bircan, Şahin A, Temiz S, Aloğlu M, Yasemin Tutuncu, Akin Dayan |
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| Přispěvatelé: | Gozu, H. I., Ozcelik, S., Aloglu, M., Sahin, A., Temiz, S., Dayan, A., Cengiz, H., Tutuncu, Y., Bircan, R. |
| Rok vydání: | 2016 |
| Předmět: |
Goiter
endocrine system diseases Turkey Adolescents Polymerase Chain Reaction GRAVES-DISEASE 0302 clinical medicine Gene Frequency Polymorphism (computer science) ADOLESCENTS Genotype Thyroid Receptors Thyrotropin ASSOCIATION General Medicine STIMULATING HORMONE-RECEPTOR medicine.anatomical_structure TSHR D727E 030220 oncology & carcinogenesis Germline Polymorphism Mutations Polymorphism Restriction Fragment Length Goiter Nodular endocrine system medicine.medical_specialty Turkish population THYROID-DISEASES Stimulating Hormone-Receptor TWIN Familial Euthyroid Goiter 030209 endocrinology & metabolism Graves-Disease GERMLINE POLYMORPHISM Association 03 medical and health sciences Internal medicine Genetics Genetic predisposition medicine Humans Genetic Predisposition to Disease Polymorphism Molecular Biology Allele frequency Alleles Polymorphism Genetic MUTATIONS business.industry Human Thyrotropin Receptor Case-control study Twin HUMAN THYROTROPIN RECEPTOR medicine.disease eye diseases Toxic MNG Endocrinology FAMILIAL EUTHYROID GOITER Case-Control Studies Thyroid-Diseases business |
| Zdroj: | Genetics and molecular research : GMR. 15(3) |
| ISSN: | 1676-5680 |
| Popis: | The 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. |
| Databáze: | OpenAIRE |
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