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奥沙利铂所致周围神经毒性相关基因多态性研究进展
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| 篇名： | 奥沙利铂所致周围神经毒性相关基因多态性研究进展 |
| TITLE： | Advances in polymorphisms of genes associated with oxaliplatin-induced peripheral neurotoxicity |
| 摘要： | 周围神经毒性是奥沙利铂最严重的剂量限制性不良反应之一，而基因多态性在奥沙利铂所致周围神经毒性（OIPN）中发挥了重要作用。OIPN根据发病时间可分为急性和慢性OIPN，前者临床表现为感觉异常甚或运动障碍，后者临床表现为肢体感觉障碍且持续不退、手足麻木或疼痛。转运蛋白基因OCT2、OCTN2和NHE1可能与OIPN的发生有关；药物代谢酶基因GSTP1Ile105Val，DPYDrs1801265，电压门控钠通道（NaV）基因SCN4Ars2302237、SCN9Ars6746030、SCN10Ars12632942和其他相关基因如HLA-Grs1610696、rs371194629，CCNHrs2230641、rs3093816与严重OIPN的发生有关；而DNA修复相关基因XRCC1rs23885，NaV基因SCN9Ars3750904、rs12478318、rs6754031与OIPN风险降低有关。未来可以将OIPN的遗传学研究成果向临床转化，最终实现对患者个体化精准医疗。 |
| ABSTRACT： | Peripheral neurotoxicity represents one of the most severe dose-limiting adverse reactions associated with oxaliplatin， with genetic polymorphisms playing a significant role in oxaliplatin-induced peripheral neuropathy （OIPN）. OIPN can be categorized as acute or chronic based on onset timing. The former presents clinically as sensory abnormalities or even motor disorders， while the latter presents clinically as limb sensory disorders that persist， numbness or pain in the hands and feet. The transporter genes OCT2， OCTN2， and NHE1 may be implicated in OIPN； drug-metabolizing enzyme gene GSTP1 Ile105Val， DPYD rs1801265， voltage-gated sodium channel （NaV） gene SCN4A rs2302237， SCN9A rs6746030， SCN10A rs12632942， and other associated genes such as HLA-G rs1610696， rs371194629 and CCNH rs2230641， rs3093816 are associated with severe OIPN. Conversely， DNA repair-related gene XRCC1 rs23885， NaV gene SCN9A rs3750904， rs12478318 and rs6754031 are associated with reduced OIPN risk. In the future， the genetic research findings on OIPN can be translated into clinical applications， ultimately achieving individualized precision medicine for patients. |
| 期刊： | 2026年第37卷第01期 |
| 作者： | 崔宇；李梦露；徐姗 |
| AUTHORS： | CUI Yu，LI Menglu，XU Shan |
| 关键字： | 奥沙利铂；周围神经毒性；基因多态性；转运蛋白基因；代谢酶；DNA修复；电压门控钠通道 |
| KEYWORDS： | oxaliplatin； peripheral neurotoxicity； genetic polymorphisms； transporter genes； metabolic enzymes； DNA repair； |
| 阅读数： | 121 次 |
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