单核苷酸多态性检测在疼痛科的临床应用

The Clinical Application of Single Nucleotide Polymorphism Testing in Pain Medicine

摘要:

近年来，单核苷酸多态性（Single Nucleotide Polymorphism, SNP）在疼痛诊疗中展现了重要的应用潜力。研究发现，不同基因的SNP变异与多种疼痛性疾病（如偏头痛、小纤维神经病变、原发性红斑肢痛和类风湿关节炎）的易感性、发病机制及药物反应密切相关。偏头痛患者的MTHFR基因c.677C>T突变导致叶酸代谢障碍，增加同型半胱氨酸水平，进而诱发偏头痛；SCN9A基因的突变则与小纤维神经病变和红斑肢痛症等疼痛疾病密切相关。此外，CYP3A4、HLA-B*15:02、CYP2D6和OPRM1等基因多态性显著影响患者对卡马西平、度洛西汀及阿片类药物的代谢和疗效。基因检测可帮助识别个体化药物治疗中的高风险患者，优化药物选择和剂量，提高疗效并减少副作用。未来，SNP研究将进一步推动疼痛的精准诊断和个性化治疗，提升患者生活质量。

Abstract:

In recent years, Single Nucleotide Polymorphism (SNP) has shown significant potential in the diagnosis and treatment of pain. Research has found that SNP variations in different genes are closely related to the susceptibility, pathogenesis, and drug response of various pain-related diseases, such as migraine, small fiber neuropathy, primary erythromelalgia, and rheumatoid arthritis. The c.677C>T mutation in the MTHFR gene of migraine patients leads to impaired folate metabolism, increased homocysteine levels, and subsequently triggers migraines. Mutations in the SCN9A gene are closely related to pain diseases such as small fiber neuropathy and erythromelalgia. In addition, the polymorphisms of genes such as CYP3A4, HLA-B*15:02, CYP2D6, and OPRM1 significantly affect the metabolism and efficacy of drugs like carbamazepine, duloxetine, and opioids in patients. Genetic testing can help identify high-risk patients in personalized drug treatment, optimize drug selection and dosage, improve efficacy, and reduce side effects. In the future, SNP research will further promote the precise diagnosis and personalized treatment of pain, enhancing the quality of life for patients.