文章：

全基因组关联研究揭示与术后恶心呕吐相关的新型候选变异体

Genome-Wide Association Study Identifies Novel Candidate Variants Associated with Postoperative Nausea and Vomiting

原文发布日期：26 September 2023

DOI: 10.3390/cancers15194729

类型: Article

开放获取: 是

英文摘要：

Considerable individual differences are widely observed in the incidence of postoperative nausea and vomiting (PONV). We conducted a genome-wide association study (GWAS) to identify potential candidate single-nucleotide polymorphisms (SNPs) that contribute to PONV by utilizing whole-genome genotyping arrays with more than 950,000 markers. The subjects were 806 patients who provided written informed consent and underwent elective surgery under general anesthesia with propofol or desflurane. The GWAS showed that two SNPs, rs2776262 and rs140703637, in theLOC100506403andCNTN5gene regions, respectively, were significantly associated with the frequency of nausea. In another GWAS conducted only on patients who received propofol, rs7212072 and rs12444143 SNPs in theSHISA6andRBFOX1gene regions, respectively, were significantly associated with the frequency of nausea as well as the rs2776262 SNP, and the rs45574836 and rs1752136 SNPs in theATP8B3andLOC105370198gene regions, respectively, were significantly associated with vomiting. Among these SNPs, clinical and SNP data were available for the rs45574836 SNP in independent subjects who underwent laparoscopic gynecological surgery, and the association was replicated in these subjects. These results indicate that these SNPs could serve as markers that predict the vulnerability to PONV. Our findings may provide valuable information for achieving satisfactory prophylactic treatment for PONV.

摘要翻译： 

术后恶心呕吐（PONV）的发生率存在显著的个体差异。为探究其遗传学基础，我们采用覆盖超过95万个标记的全基因组基因分型芯片，开展了一项全基因组关联研究（GWAS），旨在筛选与PONV相关的潜在候选单核苷酸多态性（SNP）。研究对象为806名签署书面知情同意书、接受丙泊酚或地氟烷全身麻醉择期手术的患者。GWAS结果显示，位于LOC100506403和CNTN5基因区域的两个SNP（rs2776262与rs140703637）与恶心发生频率显著相关。在仅纳入丙泊酚麻醉患者的另一项GWAS中，SHISA6基因区域的rs7212072、RBFOX1基因区域的rs12444143以及前述rs2776262均与恶心频率显著相关；而ATP8B3基因区域的rs45574836和LOC105370198基因区域的rs1752136则与呕吐发生显著相关。针对这些SNP，我们在独立接受腹腔镜妇科手术的患者群体中获得了rs45574836的临床与基因型数据，并在该群体中验证了该位点的关联性。以上结果表明这些SNP可作为预测PONV易感性的生物标志物。本研究结果可能为制定有效的PONV预防策略提供有价值的信息。

原文链接：

Genome-Wide Association Study Identifies Novel Candidate Variants Associated with Postoperative Nausea and Vomiting