CAJ | 학술논문

目的探讨抽动秽语综合征(GTS)与儿茶酚氧位甲基转移酶(COMT)基因多态性的关系.方法采用扩增阻碍突变系统(ARMS)聚合酶链反应等位基因分型技术,对112例GTS患者(全部GTS 组)、其中的54例单纯GTS患者(单纯GTS组)和48例GTS合并注意缺陷多动障碍(ADHD)患者(GTS+ADHD组)、71例正常对照组COMT基因val158met多态位点进行研究,分析该位点与GTS疾病的关联及该位点阳性关联对GTS发病年龄的影响.结果全部GTS组和单纯GTS组的COMT基因val158met位点基因型频率(χ2=0.56,P=0.756;χ2=1.05,P=0.600)和等位基因频率(χ2=0.18,P=0.669;0=0.29,P=0.593)分别与对照组相比,均差异无统计学意义(P＞0.05).而GTS+ADHD组和对照组相比,两组间val158met位点基因型频率(χ2=6.35,P=0.041)和等位基因频率(χ2=5.49,P=0.019)的差异有统计学意义(P＜0.05).GTS+ADHD组携带val158met位点的val/val基因型的36例患者GTS平均发病年龄(6.80±1.54)岁,早子不携带val/val基因型的12例患者平均发病年龄(8.04±1.54)岁,差异有统计学意义(P=0.016).结论 COMT基因val158met多态位点与共患注意缺陷多动障碍的GTS亚型的发生可能存在关联,val/val基因型可能与该亚型患者GTS发病年龄早有关.
목적 탐토추동예어종합정(GTS)여인다분양위갑기전이매(COMT)기인다태성적관계.방법 채용확증조애돌변계통(ARMS)취합매련반응등위기인분형기술,대112례GTS환자(전부GTS 조)、기중적54례단순GTS환자(단순GTS조)화48례GTS합병주의결함다동장애(ADHD)환자(GTS+ADHD조)、71례정상대조조COMT기인val158met다태위점진행연구,분석해위점여GTS질병적관련급해위점양성관련대GTS발병년령적영향.결과 전부GTS조화단순GTS조적COMT기인val158met위점기인형빈솔(χ2=0.56,P=0.756;χ2=1.05,P=0.600)화등위기인빈솔(χ2=0.18,P=0.669;0=0.29,P=0.593)분별여대조조상비,균차이무통계학의의(P＞0.05).이GTS+ADHD조화대조조상비,량조간val158met위점기인형빈솔(χ2=6.35,P=0.041)화등위기인빈솔(χ2=5.49,P=0.019)적차이유통계학의의(P＜0.05).GTS+ADHD조휴대val158met위점적val/val기인형적36례환자GTS평균발병년령(6.80±1.54)세,조자불휴대val/val기인형적12례환자평균발병년령(8.04±1.54)세,차이유통계학의의(P=0.016).결론 COMT기인val158met다태위점여공환주의결함다동장애적GTS아형적발생가능존재관련,val/val기인형가능여해아형환자GTS발병년령조유관.
Objective To investigate the association between catechol-O-methyl transferase (COMT)gene polymorphism and Gilles de la Tourette' s syndrome(GTS).Methods Using Amplification Refractory Mutation System(ARMS) PCR genotyping assay method,a polymorphism (val158met) of COMT gene was genotyped in 112 of all GTS patients ( total GTS group) including 54 GTS-alone patients group,48 GTS + ADHD patients group among of them and 71 healthy controls.The correlation between positive association of polymorphism (val158met)of COMT gene in GTS and the age of onset in patients with GTS was also analyzed.Results Compared with healthy controls group,genotype of val158met did not differ in total GTS patients group or alone-GTS patients group (χ2 =0.56,P=0.756;χ2 =1.05,P=0.600 respectively).There was also no significant difference (P＞0.05)in allele distribution of val158met in total GTS patients group or alone-GTS patients group compared with controls group respectively (χ2 =0.18,P=0.669;χ2 =0.29,P=0.593 respectively).However,genotype distribution of val158met was significantly different between GTS + ADHD patients group and controls group( χ2 =6.35,P =0.041 ).The frequency of the val allele of this locus was significantly higher in GTS + ADHD patients group than those in controls group ( χ2 =5.49,P =0.019 ).The mean age of onset (6.80 ± 1.54 ) in 36 children within GTS + ADHD patients group with the val/val geantype of COMT gene val158met polymorphism was significantly earlier than the mean age of onset (8.04 ± 1.54) in 12 children in val/val genotype (P =0.016 ).Conclusion Polymorphism (val158met) of COMT gene may be associated with GTS children with comorbid ADHD,which may play an important role to make the age of onset in children with GTS become earlier.