LRRK2基因Gly2385Arg多态性与泉州地区汉族人群散发性帕金森病的关联研究

Analysis of the LRRK2 Gly2385 Arg Polymorphism in Sporadic Parkinson's Disease in Han Chinese Population in Quanzhou,China

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 Gly2385Arg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%CI:1.32～12.54;女性亚组:P<0.01,OR:6.44,95%CI: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。

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 .