Клиническая и экспериментальная тиреоидология (Jul 2015)

SNP Ser38Gly in the β-subunit of potassium channel gene KCNE1 and thyrotoxic cardiomyopathy in patients with Graves’ disease

  • Alina Yur'evna Babenko,
  • Dar'ya Aleksandrovna Savitskaya,
  • Anna Aleksandrovna Kostareva,
  • Elena Nikolaevna Grineva

DOI
https://doi.org/10.14341/ket2015324-33
Journal volume & issue
Vol. 11, no. 3
pp. 24 – 33

Abstract

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The relevance of the research. The risk factors of developing severe thyrotoxic cardiomyopathy (TCMP) are not certainly determined now. But it is essential to choose the optimal approach to care. Recent studies show that even patients of the same sex, with similar age, duration of thyrotoxicosis and hormones’ level differ in a severity of cardiomyopathy. So, scientists began to search for genetic risk predictors of the heart damage, caused by thyrotoxicosis. Among possible genetic predictors of thyrotoxicosis are single nucleotide polymorphisms in genes, that expression is regulated by thyroid hormones or genes, that are involved in developing of non-thyrotoxic cardiac pathology. Aim. To investigate the possible association of the polymorphism Ser38Gly in KCNE1 gene with different manifestations of thyrotoxic cardiomyopathy, especially with atrial fibrillation and cardiac remodeling. Materials and methods. 155 patients with thyrotoxicosis caused by Graves’ disease were enrolled. Genotyping was also made in 187 healthy blood donors – the control group. Genotyping was performed by real time polymerase chain reaction. Results. Our results show an interaction of the single nucleotide polymorphism Ser38Gly in KCNE1 gene with TCMP only in patients aged 45 and older. In this age group atrial fibrillation was significantly more prevalent in GG genotype carriers: 35.3% (GG) vs 13.9% (AG+AA) (p = 0.037). Also, there was a significant difference in systolic blood pressure (SBP) by KCNE1 codon 38 genotypes. SBP were significantly higher in allele G gomozygotes as compared to allele A carriers: 124.89 ± 15.14 mm Hg vs 131.35 ± 15.32 mm Hg (p = 0.012). Conclusion. The fact, that association of the polymorphism Ser38Gly with atrial fibrillation was shown only in group with patients older than 45 years, proves that its influence is of a lower value in comparison with “traditional” risk factors. There was no significant difference among genotypes in severity of TCMP and types of myocardial re-modeling.

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