[摘要] 目的：探讨SCN10A基因外显子区rs12632942 位点多态性与结直肠癌（CRC）患者化疗奥沙利铂外周神经毒性（OXLIPN）的相关性。方法：选取2011 年1 月至2013 年6 月广州医科大学附属第二医院、南昌大学第二附属医院、广州市白云区中医医院319 例接受含奥沙利铂（OXL）化疗方案的CRC患者（均为中国中南地区汉族）血液标本，常规提取DNA、PCR扩增及分析SCN10A外显子多态位点rs12632942 基因型，评估OXLIPN程度。通过单因素卡方检验、Logistic 多因素回归分析评估外显子多态rs12632942 基因型与OXLIPN 的相关性。结果：319 例CRC 患者rs12632942 基因型：AA134 例、AG156 例、GG29 例，rs12632942 基因型频率符合哈温平衡（P>0.05）。rs12632942 的AG+GG基因型与Ⅱ~Ⅳ度OXLIPN相关（P<0.01），是发生Ⅱ~Ⅳ度OXLIPN的独立危险因素（OR=2.044，95%CI=1.231~3.392，P<0.01）。结论：SCN10A基因外显子区rs12632942AG+GG基因型的CRC患者易感Ⅱ~Ⅳ度OXLIPN。

[Abstract] Objective: To explore the association between single nucleotide polymorphism rs12632942 in SCN10A exon and oxaliplatin-induced peripheral neuropathy (OXLIPN) in colorectal cancer (CRC) patients receiving chemotherapy. Methods:A total of 319 cases of blood samples from CRC patients receiving chemotherapy regimen with Oxaliplatin (OXL) were collected from the Second Affiliated Hospital of Guangzhou Medical University, the Second Affiliated Hospital of Nanchang University, and Guangzhou Baiyun District Hospital of Chinese Medicine during January 2011 and June 2013. DNA was routinely extracted, and PCR amplification was performed to analyze the genotype of rs12632942; and OXLIPN of patients was also evaluated. The association between rs12632942 genotype and OXLIPN was analyzed by χ2 test and multivariate logistic regression model. Results: The genotypes of rs12632942 of 319 CRC patients:AA of 134 cases, AG of 156 cases and GG of 29 cases; and the genotype distribution of rs12632942 was in accordance with Har-dy-Weinberg equiliberum (P>0.05). χ 2 test showed that rs12632942AG+GG genotype was associated with Ⅱ-Ⅳ degree OXLIPN (P<0.01). Multivariate logistic regression model showed that rs12632942 AG + GG genotype was an independent risk factor for Ⅱ-Ⅳ degree OXLIPN（OR=2.044；95%CI=1.231-3.392; P<0.01）. Conclusion: Colorectal cancer patients with SCN10A exon polymorphism rs12632942 AG + GG genotype were susceptible to Ⅱ-Ⅳ degree OXLIPN.

广州市科技计划资助项目（No.201804010072）；广东省公益研究与能力建设专项资助项目（No.2014A020212333）；广东省恶性肿瘤表观遗传与基因调控重点实验室开放基金资助（No.2017B030314026）