Parkin基因R/W366及V/L380多态性与散发性帕金森病

The association between V/L380 and R/W366 polymorphisms in Parkin gene and sporadic Parkinson's disease.

目的 探讨Parkin基因V/L380及R/W36 6多态性与散发性帕金森病 (PD)的遗传易感性之间的关系。方法 以 12 0例散发性PD患者为研究对象 ,12 0名正常人作为对照。采用聚合酶链式反应 (PCR)扩增所需DNA片段 ,用限制性内切酶酶切技术测定所研究对象的基因型和等位基因。结果 PD组R/W36 6多态性等位基因频率显著低于对照组 (连续校正χ2 =4 0 76 ,P <0 0 5 ) ;而V/L380多态性与女性散发性PD的遗传易感性相关联 (χ2 =4 4 5 ,P =0 0 3,OR =2 4 9) ,与发病年龄不相关。结论 Parkin基因R/W36 6和V/L380多态性可能与散发性PD的遗传易感性相关。

Objective To investigate the relationship between polymorphisms in Parkin gene and susceptibility to sporadic Parkinsons disease(PD). Methods The genotypes and allels of V/L380 and R/W366 polymorhisms in 120 PD patients and 120 normal controls were analyzed by PCR amplification and restriction endonuclease digestion. Results The R/W366 frequency was significantly lower in PD group (continuity correction χ 2=4.076, P<0 05 ) There was an association between V/L380 polymorhism and susceptibility to sporadic PD for female ( χ 2=4 45, P=0 03, OR=2 49 ), while no association between V/L380 polymorhism and the age of onset was found.Conclusions Our finding suggests that R/W366 polymorhism may be a protective factor against PD, and V/L380 polymorhism is associated with an increased risk for female sporadic PD.