The contribution of genetic factors to the presence of overactive bladder (OAB) is recognized. This study aimed to: (1) assemble and synthesize available data from studies assessing differential gene expression in OAB patients compared to non-OAB controls and (2) determine possible correlations and functional pathways between genes.
We searched PubMed, Ovid/Medline, and Wiley Cochrane Central Register of Controlled Trials databases between January 1, 2000, and December 15, 2021. STUDY ELIGIBILITY CRITERIA (STUDY DESIGN, POPULATIONS, AND INTERVENTIONS): Studies were included if gene expression was detected and quantified using molecular approaches performed on human bladder tissue specimens directly and excluded if the gene expression analysis was carried out from blood/urine specimens alone.
A systematic review was completed to identify publications that reported differently expressed gene candidates among OAB patients as compared to healthy individuals.
Gene networking connections and pathway analysis were performed employing MetaScape software, where inputs were identified from our systematic review of differentially expressed genes in OAB.
A total of nine studies were included in the final analysis and eleven genes were identified as being upregulated (P2RX2, SMTN, GAP43, TRPM8, CDH1, GJC1, CHRM2, CHRM3, TRPV4) or downregulated (P2RX3, P2RX5) in OAB patients. Gene network analysis showed that genes are involved in chemical synaptic transmission, smooth muscle contraction, blood circulation, and response to temperature stimulus. Network analysis demonstrated a significant genetic interaction between TRPV4, TRPM8, P2RX3, and PR2X2 genes.
Outcomes of this systematic review highlight potential biomarkers for treatment efficacy and lay the groundwork for developing future gene therapies of OAB in clinical settings.
American journal of obstetrics and gynecology. 2022 Aug 03 [Epub ahead of print]
Ilaha Isali, Phillip McClellan, Thomas R Wong, Clara Sun, Amber Catherine Stout, Fredrick R Schumacher, Sarah Markt, Chen-Han Wilfred Wu, Kathryn L Penney, Sherif El-Nashar, Adonis Hijaz, David Sheyn
Department of Urology, University Hospitals, Cleveland Medical Center., Core library, University Hospitals, Cleveland Medical Center., Department of Population & Quantitative Health Sciences, Case Western Reserve University., Department of Urology, University Hospitals, Cleveland Medical Center; Department of Genetics and Genome Sciences, Case Western Reserve University., Department of Epidemiology, Harvard T.H. Chan School of Public Health; Department of Medicine, Brigham and Women's Hospital, Harvard Medical School., Department of Obstetrics and Gynecology, Mayo Clinic., Department of Urology, University Hospitals, Cleveland Medical Center. Electronic address: .
PubMed http://www.ncbi.nlm.nih.gov/pubmed/35932882