Publication: Esansiyel hipertansiyonda Beta-1 adrenerjik reseptör polimorfizmlerinin belirlenmesi
Abstract
Amaç: Beta-1 adrenerjik reseptör (β1-AR), hem temel biyolojik işlevlerin düzenlenmesinde hem de kardiyovasküler hastalıkların tedavisinde önemli bir rol oynamaktadır. G-proteinine bağlı reseptörler (GPCR) ailesine ait olan β1-AR, hücre zarında yer alarak dış çevreden gelen sinyalleri hücre içine iletmekle görevlidir. β1-AR’ın genetik varyantlarının bazı popülasyonlarda esansiyel hipertansiyon (EHT) ile ilişkilendirildiği çeşitli çalışmalar mevcuttur. Ancak bu çalışmaların sonuçları arasında çeşitlilik bulunmakta ve çalışma sayısının yetersizliği dikkat çekmektedir. Bu bağlamda, çalışmamız, daha önce esansiyel hipertansiyon ile ilişkisi belirlenen β1-AR’ın Arg389Gly (rs1801253) polimorfizminin Türk popülasyonundaki dağılımını ve EHT ile olan ilişkisini belirlemeyi amaçlamaktadır. Gereç ve Yöntem: Bu çalışmada, Marmara Üniversitesi Tıp Fakültesi Pendik Eğitim ve Araştırma Hastanesi Dahiliye Polikliniği’ne daha önce başvurmuş ve EHT tanısı almış 214 hasta ile EHT tanısı almamış 193 sağlıklı bireyin -20 °C’de saklanan DNA örnekleri kullanılmıştır. Arg389Gly (rs1801253) tek nükleotid polimorfizminin analizi için Polimeraz Zincir Reaksiyonu (PZR) yöntemi, LightCycler® 480 (Roche) cihazı kullanılarak gerçekleştirilmiştir. Elde edilen genotip dağılımları, GraphPad Prism istatistik erlendirilmiştir. Bulgular: Arg389Gly (rs1801253) polimorfizmi için gerçekleştirilen PZR analizi sonucunda, esansiyel hipertansiyon (EHT) tanısı almış 215 bireyin DNA örneklerinde CC genotipi %52,6 (113 kişi), GG genotipi %9,3 (20 kişi) ve CG genotipi %38,1 (82 kişi) oranında tespit edilmiştir. Kontrol grubundaki 193 DNA örneğinde ise CC genotipi %50,3 (97 kişi), GG genotipi %7,3 (14 kişi) ve CG genotipi %42,5 (82 kişi) oranında belirlenmiştir. İki grup arasındaki genotip frekansları Chi-kare (χ²) analizleri ile değerlendirilmiş ve EHT grubunda p = 0,665, kontrol grubunda p = 0,840, toplam örneklemde ise p = 0,970 olarak hesaplanmıştır. Her iki grubun da Hardy-Weinberg dengesi ile uyumlu olduğu tespit edilmiş (p > 0,05) ve genotip dağılımlarının beklenen değerlere yakın olduğu gösterilmiştir. Sonuç: Bu çalışmada elde edilen sonuçlara göre, C allelinin Türk popülasyonunda baskın olduğu ve genotip dağılımında CC genotipinin en yaygın genotip olarak bulunduğu belirlenmiştir. Bulgularımızda Arg389Gly (rs1801253) polimorfizminin ile esansiyel hipertansiyonlu bireyler arasında anlamlı bir korelasyon saptanmamıştır. Bununla beraber genotip frekans dağılımının literatürle uyumlu olduğu ve Türk popülasyonunun genetik dağılımının diğer popülasyonlara benzer bir profil sergilediğini görülmektedir.
Objective: The beta-1 adrenergic receptor (β1-AR) plays a critical role in both regulating fundamental biological functions and treating cardiovascular diseases. Belonging to the G-protein-coupled receptor (GPCR) family, β1-AR is located on the cell membrane and is responsible for transmitting external signals into the cell. Various studies have reported that genetic variants of β1-AR are associated with essential hypertension (EHT) in certain populations. However, inconsistencies in the results and the limited number of studies draw attention. In this context, our study aims to determine the distribution of the Arg389Gly (rs1801253) polymorphism, previously associated with essential hypertension, in the Turkish population and its relationship with EHT. Materials and Methods: This study utilized DNA samples stored at -20 °C, obtained from 215 patients diagnosed with EHT and 193 healthy individuals without an EHT diagnosis, who had previously applied to the Internal Medicine Outpatient Clinic of Marmara University Pendik Education and Research Hospital. The analysis of the Arg389Gly (rs1801253) single nucleotide polymorphism was conducted using the Polymerase Chain Reaction (PCR) method with the LightCycler® 480 (Roche) device. The genotypic distributions were evaluated using the GraphPad Prism statistical program. Results: The PCR analysis of the Arg389Gly (rs1801253) polymorphism revealed that, among the 215 DNA samples from individuals diagnosed with EHT, the CC genotype was observed in 52.6% (113 individuals), the GG genotype in 9.3% (20 individuals), and the CG genotype in 38.1% (82 individuals). In the control group of 193 DNA samples, the CC genotype was found in 50.3% (97 individuals), the GG genotype in 7.3% (14 individuals), and the CG genotype in 42.5% (82 individuals). Chi-square (χ²) analyses of the genotypic frequencies between the two groups yielded p = 0.665 for the EHT group, p = 0.840 for the control group, and p = 0.970 for the total sample. Both groups were found to be in Hardy-Weinberg equilibrium (p > 0.05), indicating that the observed genotypic distributions were close to the expected values. Conclusion: The results of this study indicate that the C allele is dominant in the Turkish population, and the CC genotype is the most prevalent genotype in terms of genotypic distribution. Our findings has not indicated a correlation between Arg389Gly (rs1801253) polymorphism in individuals and essential hypertension. However, genotype frequency distribution was consistent with the previous literature and that the genetic distribution in the Turkish population exhibits a similar profile to the other populations.
Objective: The beta-1 adrenergic receptor (β1-AR) plays a critical role in both regulating fundamental biological functions and treating cardiovascular diseases. Belonging to the G-protein-coupled receptor (GPCR) family, β1-AR is located on the cell membrane and is responsible for transmitting external signals into the cell. Various studies have reported that genetic variants of β1-AR are associated with essential hypertension (EHT) in certain populations. However, inconsistencies in the results and the limited number of studies draw attention. In this context, our study aims to determine the distribution of the Arg389Gly (rs1801253) polymorphism, previously associated with essential hypertension, in the Turkish population and its relationship with EHT. Materials and Methods: This study utilized DNA samples stored at -20 °C, obtained from 215 patients diagnosed with EHT and 193 healthy individuals without an EHT diagnosis, who had previously applied to the Internal Medicine Outpatient Clinic of Marmara University Pendik Education and Research Hospital. The analysis of the Arg389Gly (rs1801253) single nucleotide polymorphism was conducted using the Polymerase Chain Reaction (PCR) method with the LightCycler® 480 (Roche) device. The genotypic distributions were evaluated using the GraphPad Prism statistical program. Results: The PCR analysis of the Arg389Gly (rs1801253) polymorphism revealed that, among the 215 DNA samples from individuals diagnosed with EHT, the CC genotype was observed in 52.6% (113 individuals), the GG genotype in 9.3% (20 individuals), and the CG genotype in 38.1% (82 individuals). In the control group of 193 DNA samples, the CC genotype was found in 50.3% (97 individuals), the GG genotype in 7.3% (14 individuals), and the CG genotype in 42.5% (82 individuals). Chi-square (χ²) analyses of the genotypic frequencies between the two groups yielded p = 0.665 for the EHT group, p = 0.840 for the control group, and p = 0.970 for the total sample. Both groups were found to be in Hardy-Weinberg equilibrium (p > 0.05), indicating that the observed genotypic distributions were close to the expected values. Conclusion: The results of this study indicate that the C allele is dominant in the Turkish population, and the CC genotype is the most prevalent genotype in terms of genotypic distribution. Our findings has not indicated a correlation between Arg389Gly (rs1801253) polymorphism in individuals and essential hypertension. However, genotype frequency distribution was consistent with the previous literature and that the genetic distribution in the Turkish population exhibits a similar profile to the other populations.