Eser, Metin Medeniyet Üniversitesi - Göztepe Eğitim Araştırma Hastanesi, Turkey , Şanlıalp, Musa Pamukkale Üniversitesi - Tıp Fakültesi - Kardiyoloji AD, Turkey , Tepeli, Emre Pamukkale Üniversitesi - Tıp Fakültesi - Tıbbi Genetik AD, Turkey , Tufan, Lale Şatıroğlu Pamukkale Üniversitesi - Tıp Fakültesi - Tıbbi Genetik AD, Turkey , Kaftan, Havane Asuman Pamukkale Üniversitesi - Tıp Fakültesi - Kardiyoloji AD, Turkey , Semerci, Cavidan Nur Pamukkale Üniversitesi - Tıp Fakültesi - Tıbbi Genetik AD, Turkey

Investigation of polymorphisms in CHGA gene’s promoter region in patients with essential hypertension

22703

Purpose:Essential hypertension is defined as high blood pressure with an unknown cause or as high blood pressure that does not develop due to a secondary disease. Essential hypertension is associated with many gene polymorphisms, metabolic pathways and known systems. However the pathogenesis of essential hypertension is not fully understood. Recently a lot of emphasis has been put on one of the susceptible genes, Chromogranin A (CHGA) gene. CHGA gene, which is mainly expressed in the adrenal medulla and postganglionic sympathetic axon, regulates storage and release of catecholamines by intracellular and extracellular mechanisms. The aim of this study is to investigate polymorphisms in CHGA gene’s promoter T-1014C, T-988G, G-462A and T-415C regions with sequence analysis in patients with essential hypertension and control cases. Materials and methods:In this study, peripheral blood samples were collected in tubes with EDTA from 50 patients diagnosed with essential hypertension and 32 healthy controls. DNA was obtained from the samples. DNA sequence with T-1014C, T-988G, S-462 and C-415T polymorphisms at the promoter region of CHGA gene was amplified by the polymerase chain reaction (PCR) with specific primers. Polymorphisms were analyzed by the DNA sequence analysis method with the automatic capillary gel electrophoresis instrument. Data were evaluated by using descriptive statistical analysis and chi-square tests of the SPSS 11.0 version. Results: According to the results, the frequency of C allele, CC and TC genotypes for promoter T-1014C polymorphic region, G allele, GG and TG genotype for promoter T-988G polymorphic region was significantly higher (p 0.05) in patients with essential hypertension than the control group; whereas in CHGA promoter region G-462A and the T-415C polymorphic regions there was no statistically significant difference according to frequencies of allele and genotypes between patients and control groups (p 0.05). Conclusion: The polymorphisms of T-1014C and T-988G at the promoter region of CHGA gene were statistically significant between patients and control groups. The results may not fully reflect CHGA promoter region polymorphisms of the Turkish population due to limitations in the number of cases. However, the importance of this study is that it is the first study conducted in the Turkish population and it is a pioneer for future studies.

23

Essential hypertension , CHGA gene promoter region polymorphisms.

Pamukkale Medical Journal

30