Year: 2022
Type: article
Study design: Observational Study
Abstract: SH3 and multiple ankyrin repeat domains (SHANK) is a family of scaffold proteins that were first identified to be involved in balancing synaptic transmission via regulation of intracellular signalling crosstalk and have been linked to various cancers. However, the role of the SHANK genes in renal cell carcinoma (RCC) remains to be elucidated. In this study, we aimed to evaluate whether genetic variants in SHANK family genes affect the risk of RCC and survival of patients. A genetic association study was conducted using logistic regression and Cox regression analyses, followed by the correction for a false discovery rate (FDR), in 630 patients with RCC and controls. A pooled analysis was further performed to summarise the clinical relevance of SHANK gene expression in RCC. After adjustment for known risk factors and the FDR, the SHANK2 rs10792565 T allele was found to be associated with an increased risk of RCC (adjusted odds ratio = 1.79, 95% confidence interval = 1.32–2.44, p = 1.96 × 10−4, q = 0.030), whereas no significant association was found with RCC survival. A pooled analysis of 19 independent studies, comprising 1509 RCC and 414 adjacent normal tissues, showed that the expression of SHANK2 was significantly lower in RCC than in normal tissues (p < 0.001). Furthermore, low expression of SHANK2 was correlated with an advanced stage and poor prognosis for patients with clear cell and papillary RCC. This study suggests that SHANK2 rs10792565 is associated with an increased risk of RCC and that SHANK2 may play a role in RCC progression.
Institutions: China Medical University, Kaohsiung Medical University, Kaohsiung Medical University Chung-Ho Memorial Hospital, Wan Fang Hospital, Taipei Medical University, Kaohsiung Municipal Hsiao-Kang Hospital, National Taiwan University, National Taiwan University Hospital, Asia University, China Medical University Hospital
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,618
Awards: G1134132789, G1526488410, A Translational Medicine Research by Using Inflammasome Activation as Prognostic Factors for Metastatic Castration-Resistant Prostate Cancer (Mcrpc) under the Second-Line Hormonal Therapy (The 2nd and 3rd Years), Development of Autophagy-Related Genetic Biomarkers for Precision Therapy in Prostate Cancer, G2143531117, G2261850885, G2414669532, To Resolve the Physiological Regulation Mechanism of Microenvironmental Macrophage Polarization Induced by Hypoxia-Induced Inflammasome-Activated Prostate Cancer Cells and Develop a Novel Targeting Therapeutic Strategy, G298926400, G431886762, G4969158654, Effects of Gene-Environment Interaction of Inflammasome Gene Polymorphisms and Arsenic Exposure on Renal Cell Carcinogenesis and Its Mechanism, A Translational Medicine Research by Using Inflammasome Activation as Prognostic Factors for Metastatic Castration-Resistant Prostate Cancer (Mcrpc) under Second-Line Hormonal Therapy, Metabolome-Genome-Wide Association Study of Vitamin D in Prostate Cancer, G5661916589, The Interaction among Inter-Individual Genetic Variability, Nutritional Status, and Prostate Cancer Incidence and Mortality, Genomic and Functional Studies of Inflammasome, Pd-1/Pd-L1 and Immunosuppression Pathway in Prostate Cancer, G7405612815
OpenAlex ID: W4303685938