由基因变异介导的PSMD13可变剪接与子宫内膜癌风险明显相关。
Alternative splicing of PSMD13 mediated by genetic variants is significantly associated with endometrial cancer risk.
发表日期：2023 Jan 23
作者：
Sisi He, Rong Cao, Yan Mao, Na Li, Yanzhe Wang, Hu Ma, Kunming Tian
来源：
Journal of Gynecologic Oncology
摘要：
累积证据表明，异常的可变剪接事件与肿瘤的发生和发展密切相关。然而，基因变异相关的可变剪接是否与子宫内膜癌的风险密切相关仍然不确定。我们利用CancerSplicing QTL数据库，鉴定了位于子宫内膜癌剪接数性状位点（sQTL）中的单核苷酸多态性（SNP）。在生物信息学分析的同时，我们进行了一项病例对照研究，包括2,000例病例和2,013例对照，以评估已鉴定的具有mRNA剪接功能的SNP与子宫内膜癌易感性之间的关联。此外，我们利用Kaplan-Meier Plotter、The Human Protein Atlas、SPNR和Spliceman2数据库进行sQTL和差异基因表达分析，以确定最有可能通过可变剪接影响子宫内膜癌风险的基因变异，并揭示候选SNP调节子宫内膜癌风险的潜在机制。结果表明，SNP rs7128029 A
Accumulating evidence has shown that aberrant alternative splicing events are closely associated with the onset and development of cancer. However, whether genetic variants-associated alternative splicing is linked to risk of endometrial cancer remains largely uncertain.We identified single nucleotide polymorphisms (SNPs) locates in the splicing number trait locus (sQTL) of endometrial cancer using the CancerSplicing QTL database. In parallel with bioinformatics analysis, we conducted a case-control study comprising 2,000 cases and 2,013 controls to assess the association between identified SNP which possesses mRNA splicing function and endometrial cancer susceptibility. Furthermore, we used the Kaplan-Meier Plotter, The Human Protein Atlas, SPNR, and Spliceman2 databases for sQTL and differential gene expression analyses to identify the genetic variant which most potentially influence the risk of endometrial cancer through alternative splicing to reveal the potential mechanism by which candidate SNPs regulate the risk of endometrial cancer.The results indicated that SNP rs7128029 A