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CC BY 4.0 · Glob Med Genet 2020; 07(02): 047-050
DOI: 10.1055/s-0040-1714091
Original Article

Methylenetetrahydrofolate Reductase (MTHFR) C677T and A1298C Polymorphisms in Georgian Females with Hypothyroidism

Tamar Kvaratskhelia
1   Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia
2   Division of Endoctinology, Medical Center “Medimedi,” Tbilisi, Georgia
,
Elene Abzianidze
1   Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia
,
Ketevan Asatiani
3   Metabolic Disorders, National Institute of Endocrinology, Tbilisi, Georgia
,
Merab Kvintradze
1   Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia
,
Sandro Surmava
1   Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia
,
Eka Kvaratskhelia
1   Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia
› Institutsangaben Funding None.
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Abstract

The aim of this study was to investigate the frequency of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms in Georgian females with hypothyroidism. Thirty-four patients and 29 healthy individuals were recruited in this study. Polymerase chain reaction-restriction fragment length polymorphism analyses were used for genotyping of MTHFR polymorphisms. The results of this study suggest that the MTHFR C677T variant was significantly associated with hypothyroidism. In addition, in individuals with T allele risk of hypothyroidism significantly increased. Combination of CT/AA genotypes was more prevalent in the hypothyroid patients than in the control group. Thus, C677T polymorphism could be a possible genetic factor contributing to the pathophysiology of hypothyroidism, possibly through hyperhomocysteinemia.

Keywords

hypothyroidism - hyperhomocysteinemia - MTHFR - SNPs - PCR-RFLP


Publikationsverlauf

Artikel online veröffentlicht:
20. Juli 2020

© 2020. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/).

Georg Thieme Verlag KG
Stuttgart · New York

 

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