INVESTIGATION OF CATECHOL-O-METHYLTRANSFERASE G-1947A GENETIC VARIANT AND ESSENTIAL HYPERTENSIONRELATIONSHIP İN TURKISH POPULATION

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Albar M. G., Kocakaya O., Mega Tiber P., Orun O.

4th international 33th biophysical congress, Adıyaman, Türkiye, 31 Ağustos - 01 Eylül 2022, ss.157

  • Yayın Türü: Bildiri / Özet Bildiri
  • Basıldığı Şehir: Adıyaman
  • Basıldığı Ülke: Türkiye
  • Sayfa Sayıları: ss.157
  • Marmara Üniversitesi Adresli: Evet

Özet

Aim: Catechol-O-methyltransferase (COMT) is one of enzymes that play role in the catecholamine metabolism. This enzyme catalyzes transformation of a methyl group from S-adenosyl methionine (SAM) to catecholamine neurotransmitters dopamine, norepinephrine and epinephrine and lead to the inactivation of these catecholes. Genetic polymorphism rs4680 (Val158Met) of COMT is known as a major variant that changes enzymatic activity and association of this variant with essential hypertension (EHT) has been previously shown in several populations. Therefore, in our study, we aimed to determine distribution of this promoter variant in Turkish population and to reveal its correlation with EHT.

Material and Methods: DNA was isolated from peripheral blood samples (200 μl) of 221 patients diagnosed with essential hypertension (EHT) and 170 healthy persons without EHT, referred to the Department of Internal Medicine, Pendik Education and Research Hospital of Marmara University Medical Faculty. Real-time PCR analyzes were performed using LightCycler 96 (Roche). Distribution of genotypes and their relationship with EHT was evaluated statistically using GraphPad Prism software (v.7.0).

Results: The genotype distribution for COMT G-1947A (rs4680) variance were found as 39.8% AA, 34.3% GA, and 25.9% GG in 221 EHT patients. Corresponding values for healthy individuals were 31.1% AA, 27.1% GA and 41.8% GG. The respective frequencies between two groups were found statistically significant when compared using chi-square analysis (p=0,0038). The difference in single allele distributions (A / G) was also statistically significant, showing strong correlation with EHT (p=0,0006).

Conclusion: According to our results, G-1947A variance have a strong positive association with hypertension. Therefore G-1947A polymorphism could be an important risk marker for Turkish population.

Acknowledgement: This study was supported by Marmara University Scientific Research Projects Commission with project number SAG-C-YLP-131217-0650.