Relation of ADRB3, GEF, ROCK2 gene polymorphisms to clinical findings in overactive bladder
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ORIGINAL ARTICLE
Relation of ADRB3, GEF, ROCK2 gene polymorphisms to clinical findings in overactive bladder Elif Fırat1 · Zafer Aybek2 · Şakir Akgün3 · Kürşat Küçüker2 · Hakan Akça4 · Hülya Aybek1 Received: 24 October 2019 / Accepted: 28 November 2019 © Springer-Verlag GmbH Germany, part of Springer Nature 2019
Abstract Purpose Adrenergic and cholinergic pathways play an important role in contraction–relaxation harmony in human bladder. Functional changes in any proteins in these pathways may result in overactive bladder. We aimed to investigate whether single gene polymorphisms affecting adrenergic and cholinergic pathways are associated with OAB syndrome. Methods 60 patients with idiopathic OAB and 60 healthy controls were included in the study. A validated OAB-V8 questionnaire was given to all patients. Polymorphisms of ADRB3, ROCK2, and GEF gene were detected by PCR from whole blood samples. Genotypic structures of patients and controls were compared. The relationship between genotypic structures and OAB symptom scores were investigated. Results We found no significant difference in the genotype and allele frequencies between the patients and controls for all three SNP. While there was no relationship between ADRB3 and GEF gene polymorphisms and OAB scores in OAB patients, the OAB score in heterozygous polymorphic individuals was significantly higher than in homozygous polymorphic individuals in the ROCK2 gene (p = 0.039). Conclusion The polymorphisms of the ADRB3, ROCK2, and GEF genes were present in both OAB group and healthy controls, but were not associated with OAB syndrome. Keywords Polymorphism · Overactive bladder · Smooth muscle · OAB score
Introduction Overactive bladder (OAB) syndrome is a clinical condition that is caused by a combination of one or more of the symptoms, such as urgency, urgency incontinence, frequent urination and nocturia [1]. Although it can be seen in the population of all ages and gender, it is more common in women. OAB is not a life-threatening condition, but it may * Elif Fırat [email protected] Şakir Akgün [email protected] 1
Department of Medical Biochemistry, Pamukkale University School of Medicine, Denizli, Turkey
2
Department of Urology, Pamukkale University School of Medicine, Denizli, Turkey
3
Department of Medical Biology, Kafkas University School of Medicine, Kars, Turkey
4
Department of Medical Genetics, Pamukkale University School of Medicine, Denizli, Turkey
cause considerable negative effects on the quality of life of individuals, influencing their ability to work and social life. It can result in a loss of independence and social isolation [2]. Neuronal control of the bladder is provided by the parasympathetic, sympathetic and somatic nervous system. The parasympathetic system is dominant in the discharge phase while the sympathetic system is dominant in the storage phase of the urination. Normal voiding occurs with the harmony of these two systems [3]. The principal role of the bladder detrusor muscle relaxation is the β3 adrener
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