帕金森病患者儿茶酚氧位甲基转移酶基因多态性与左旋多巴诱导的运动障碍的关系

Association between polymorphism of COMT gene and motor fluctuation induced by levodopa in Pakinson’s disease

目的探讨儿茶酚氧位甲基转移酶(COMT)基因第4号外显子G→A的点突变所致的基因多态性是否与帕金森病患者中左旋多巴诱导的运动障碍有关。方法采用聚合酶链反应限制性片段长度多态性的方法分析了100例帕金森病患者(分为有运动波动组和无运动波动组)与100例健康成人(对照组)COMT基因多态性。结果对照组基因型分布野生型(GG)为51%,杂合型(GA)为45%,突变纯合子型(AA)为4%。有运动波动组基因型分布分别为76%、20%、4%,无运动波动组基因型分布分别为52%、34%、14%。3组COMT的基因型分布频率有显著差异(P=0.003)。有运动波动组与无运动波动组比较,有运动波动组GG的基因型较无运动波动组显著增高;AA基因型有运动波动组较无运动波动组明显降低(P=0.033)。结论COMT基因第4号外显子G→A的点突变所致的基因多态性与左旋多巴诱导的运动障碍有关。

Objectives To investigate whether the motor fluctuation induced by levodopa in Pakinson＇s disease patients is associated with polymorphism of catechol -O- methyltransferase （COMT） gene caused by the point mutation of G1947→A in exon 4. Methods The polymorphism of COMT gene was analyzed in 100 healthy adult individuals and 100 PD patients by polymerase chain reaction-restriction fragment length polymorphism.The group of PD patient was divided into two subgroups in which 50 had motor fluctuation and 50 had no motor fluctuation. Results There was significant difference in the overall genotypical distribution between the patients and the controls （ P = 0.003）. Compared with the patients who had no motor fluctuation , there was a trend toward increased frequency of the G/G homozygote and a trend toward decreased frequency of the A/A heterozygote in patients who had motor fluctuation. Conclusion The results suggest that the motor fluctuation induced by levodopa in Parkinson＇ s disease patients is associated with polymorphism of COMT gene.