Manoharan Ssarvinna Haran, Dewarajan Vithiya, Lee Sau Har, Tor Yin Sim
School of Biosciences, Faculty of Health and Medical Sciences, Taylor's University, 1, Jalan Taylors, 47500, Subang Jaya, Selangor, Malaysia.
Digital Health and Medical Advancement Impact Lab, Taylor's University, 47500, Subang Jaya, Selangor, Malaysia.
Discov Oncol. 2025 Jun 4;16(1):998. doi: 10.1007/s12672-025-02784-w.
Cancer remains a significant global health challenge, with a multifaceted etiology that includes genetic factors. Among these, CYP24A1 stands out for its pivotal role in vitamin D metabolism and regulates biological processes influencing cancer risk. Single nucleotide polymorphisms in CYP24A1 are associated with variations in vitamin D bioavailability, potentially impacting the initiation and progression of cancer. To date, no comprehensive review has been conducted on this topic. Therefore, this systematic review aims to investigate the association between common CYP24A1 polymorphisms and cancer susceptibility, by analyzing studies retrieved from PubMed, Scopus, Cochrane Library, and Web of Science databases up to January 2024. Using PRISMA guidelines and quality assessments with the Newcastle Ottawa Scale (NOS), 22 studies, with 28,132 participants (12,751 cases and 15,381 controls) were included. The reported odds ratio and p-value were used to assess the association between CYP24A1 SNPs (rs2296241, rs6068816, rs927650, rs2181874 and rs2585428) with various cancer risks. Key findings revealed that SNP rs2296241 was linked to increased risk of follicular thyroid cancer but lower risks in papillary thyroid cancer, esophageal squamous cell carcinoma, oral cancer, and prostate cancer. SNP rs6068816 correlated with reduced breast and lung cancer risks, while rs927650 and rs2181874 were associated with lower risks in papillary thyroid cancer and prostate cancer, respectively. SNP rs2585428 showed a lower risk in breast and prostate cancers suggesting a protective effect against these malignancies. These results highlight CYP24A1 polymorphisms as potential molecular markers for cancer susceptibility, underscoring their clinical relevance in risk assessment and personalized interventions.
癌症仍然是一项重大的全球健康挑战，其病因是多方面的，包括遗传因素。其中，CYP24A1因其在维生素D代谢中的关键作用而脱颖而出，并调节影响癌症风险的生物学过程。CYP24A1中的单核苷酸多态性与维生素D生物利用度的变化有关，可能影响癌症的发生和发展。迄今为止，尚未对该主题进行全面综述。因此，本系统综述旨在通过分析截至2024年1月从PubMed、Scopus、Cochrane图书馆和科学网数据库检索到的研究，调查常见CYP24A1多态性与癌症易感性之间的关联。使用PRISMA指南和纽卡斯尔渥太华量表（NOS）进行质量评估，纳入了22项研究，共28132名参与者（12751例病例和15381例对照）。报告的比值比和p值用于评估CYP24A1单核苷酸多态性（rs2296241、rs6068816、rs927650、rs2181874和rs2585428）与各种癌症风险之间的关联。主要研究结果显示，单核苷酸多态性rs2296241与滤泡性甲状腺癌风险增加有关，但与乳头状甲状腺癌、食管鳞状细胞癌、口腔癌和前列腺癌风险降低有关。单核苷酸多态性rs6068816与乳腺癌和肺癌风险降低相关，而rs927650和rs2181874分别与乳头状甲状腺癌和前列腺癌风险降低相关。单核苷酸多态性rs2585428在乳腺癌和前列腺癌中显示出较低风险，表明对这些恶性肿瘤有保护作用。这些结果突出了CYP24A1多态性作为癌症易感性潜在分子标志物的作用，强调了它们在风险评估和个性化干预中的临床相关性。
