Genetic Analysis Implicates Dysregulation of SHANK2 in Renal Cell Carcinoma Progression

Chi-Fen Chang, Shu-Pin Huang, Yu-Mei Hsueh, Jiun-Hung Geng, Chao-Yuan Huang () and Bo-Ying Bao ()
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Chi-Fen Chang: Department of Anatomy, School of Medicine, China Medical University, Taichung 406, Taiwan
Shu-Pin Huang: Department of Urology, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan
Yu-Mei Hsueh: Department of Family Medicine, Wan Fang Hospital, Taipei Medical University, Taipei 116, Taiwan
Jiun-Hung Geng: Department of Urology, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan
Chao-Yuan Huang: Department of Urology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei 100, Taiwan
Bo-Ying Bao: Department of Pharmacy, China Medical University, Taichung 406, Taiwan

IJERPH, 2022, vol. 19, issue 19, 1-9

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.

Keywords: renal cell carcinoma; single-nucleotide polymorphism; SHANK; risk; survival (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
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