CAJ | 학술논문

目的探讨 LRRK2基因Gly2385Arg同泉州地区汉族人群散发性帕金森病（PD）的关系。方法收集268例泉州地区汉族散发性PD患者和277例健康者的外周血液标本并提取DNA ，利用聚合酶链反应（PCR）-限制性酶切方法（RFLP）进行 LRRK2基因Gly2385Arg多态位点的基因型检测，变异者进行直接测序验证。结果 Gly2385A rg检测中，PD组有26例是杂合型变异（9．7％），显著高于对照组（2．2％；P＜0．01，OR：4．85，95％CI：1．96～11．99）。按性别分层显示：在男性亚组或女性亚组中，Gly2385Arg变异的频率在PD组均分别显著高于健康对照组（男性亚组：P＜0．01，OR：4．07，95％ C I：1．32～12．54；女性亚组：P＜0．01，OR：6．44，95％ C I：1．39～29．72）。按起病年龄分层显示，晚发型 PD （起病年龄＞50岁）中，Gly2385Arg 变异的频率显著高于对照组（P＜0．01，OR：4．44，95％ CI：1．63～12．06）；早发型PD（起病年龄≤50岁）中，Gly2385Arg变异的频率与对照组差别无意义。结论 LRRK2基因Gly2385Arg多态是泉州地区汉族人群晚发型PD的一个风险因子。
목적탐토 LRRK2기인Gly2385Arg동천주지구한족인군산발성파금삼병（PD）적관계。방법수집268례천주지구한족산발성PD환자화277례건강자적외주혈액표본병제취DNA ，이용취합매련반응（PCR）-한제성매절방법（RFLP）진행 LRRK2기인Gly2385Arg다태위점적기인형검측，변이자진행직접측서험증。결과 Gly2385A rg검측중，PD조유26례시잡합형변이（9．7％），현저고우대조조（2．2％；P＜0．01，OR：4．85，95％CI：1．96～11．99）。안성별분층현시：재남성아조혹녀성아조중，Gly2385Arg변이적빈솔재PD조균분별현저고우건강대조조（남성아조：P＜0．01，OR：4．07，95％ C I：1．32～12．54；녀성아조：P＜0．01，OR：6．44，95％ C I：1．39～29．72）。안기병년령분층현시，만발형 PD （기병년령＞50세）중，Gly2385Arg 변이적빈솔현저고우대조조（P＜0．01，OR：4．44，95％ CI：1．63～12．06）；조발형PD（기병년령≤50세）중，Gly2385Arg변이적빈솔여대조조차별무의의。결론 LRRK2기인Gly2385Arg다태시천주지구한족인군만발형PD적일개풍험인자。
Objective To investigate the relationship between the Gly 2385Arg polymorphism of leucine-rich repeat kinase 2 (LRRK2) gene and sporadic Parkinson’s disease(SPD) in the Han Chinese population in Quanzhou , China . Methods A total of 545 subjects from Han Chinese population in Quanzhou were enrolled ,including 277 control individuals and 268 patients with SPD . Genotyping of Gly2385Arg was performed by PCR-restriction fragment length polymorphism analysis ,and all variant samples were sequenced for further confirmation . Results The Gly2385Arg variant was significantly en-riched in the SPD patient group (9 .7% )compared with the control group(2 .2% ,P<0 .01 ,OR:4 .85 ,95%CI:1 .96~11 .99) . When the genders were analyzed separately ,the frequencies of this variant were sig-nificantly higher in both male and female patients than in the corresponding control group (males :P<0 .01 ,OR:4 .07 ,95% CI:1 .32~12 .54 ;females :P<0 .01 ,OR:6 .44 ,95% CI:1 .39~29 .72) . Stratifi-cation by age of onset showed this difference was only present in late-onset PD patients(P< 0 .01 ,OR:4 .44 ,95% CI:1 .63~12 .06) . Conclusion The Gly2385Arg polymorphism may be a risk factor for late-onset SPD in the Han Chinese population in Quanzhou .