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目的:探讨儿茶酚胺氧位甲基转移酶(COMT)基因第4号外显子G→A点突变所致的基因多态性是否与帕金森病患者的运动并发症有关。方法:分析50例帕金森病患者(分为有运动并发症组和无运动并发症组)与50例健康成人(对照组)COMT基因多态性。结果:3组COMT的基因型分布频率有显著差异(P=0.003)。有运动并发症组与无运动并发症组比较,G/G的基因型显著增高;A/A基因型明显降低(P=0.035)。结论:COMT基因第4号外显子G→A点突变所致的基因多态性与帕金森患者的运动并发症有关。
Objective: To investigate whether genetic polymorphism caused by G → A mutation in exon 4 of Catecholamine Oxygen Methyltransferase (COMT) gene is associated with motor complications in patients with Parkinson’s disease. Methods: COMT gene polymorphisms in 50 patients with Parkinson’s disease (divided into group with exercise complication and without exercise complication) and 50 healthy adults (group) were analyzed. Results: There was a significant difference in genotype frequencies of COMT between the three groups (P = 0.003). The genotype of G / G was significantly higher in the group with exercise complications compared with the group without exercise complications. The A / A genotype was significantly decreased (P = 0.035). Conclusion: The gene polymorphism caused by G → A mutation in exon 4 of COMT gene is related to motor complications in patients with Parkinson ’s disease.