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

Tamar Kvaratskhelia; Elene Abzianidze; Ketevan Asatiani; Merab Kvintradze; Sandro Surmava; Eka Kvaratskhelia

doi:10.1055/s-0040-1714091

Global Medical Genetics, Table of Contents

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

Authors

Tamar Kvaratskhelia

¹Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia

²Division of Endoctinology, Medical Center “Medimedi,” Tbilisi, Georgia
Elene Abzianidze

¹Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia
Ketevan Asatiani

³Metabolic Disorders, National Institute of Endocrinology, Tbilisi, Georgia
Merab Kvintradze

¹Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia
Sandro Surmava

¹Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia
Eka Kvaratskhelia

¹Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia

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

Full Text

References

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