Parkin基因多态性与山东省汉族帕金森病发病风险的关系  

Relationship between polymorphisms of Parkin gene and the risk of Parkinson's disease in Han nationality of Shandong Province

作　　者：陈思[1] 王牧川[2] 任楠楠[3] 许巍[1] 王玲玲[1] 栾海辉[1] 马俊[1] 刘艺鸣[1] 

机构地区：[1]山东大学齐鲁医院神经内科,山东济南250012 [2]山东大学医学院,山东济南250012 [3]济南市中心医院神经内科,山东济南250013

出　　处：《山东大学学报（医学版）》2015年第4期71-74,共4页Journal of Shandong University:Health Sciences

基　　金：国家自然科学基金(30970990)

摘　　要：目的：探讨 Parkin 基因多态性与山东省汉族人群帕金森病（PD）发病之间的关系。方法应用 DNA 测序及限制性内切酶酶切技术检测山东省汉族人群中145例 PD 患者（PD 组）及126名健康查体者（对照组）Parkin 基因的3个单核苷酸多态（Ser167Asn、Val380Leu 及 Arg366Trp）的等位基因频率，其中 PD 组包括早发性帕金森病（EOPD）患者67例与晚发性帕金森病（LOPD）患者78例，分析上述3个多态位点 PD 发病风险中的意义。结果PD 组与对照组的 Ser167Asn、Val380Leu 及 Arg366Trp 3个多态位点等位基因频率均无明显差异；PD 组中 EOPD患者 Ser167Asn、Arg366Trp 位点与 LOPD 患者相比，等位基因频率亦无明显差异；EOPD 患者 Val380Leu 位点与LOPD 患者相比，等位基因频率存在显著性差异（P ＝0．01，OR ＝3．39，95％CI：1．287～8．931）。结论山东省汉族人群 Parkin 基因 Ser167Asn、Val380Leu 及 Arg366Trp 多态位点可能与 PD 的发病无明显相关性，其中 Val380Leu可使 PD 的发病年龄提前。Objective To investigate the relationship between polymorphisms in Parkin gene and the risk of Parkinson’s disease（PD）in Han nationality of Shandong province.Methods The alleles of three polymorphisms（Ser167Asn, Val380Leu and Arg366Trp）in Parkin gene in 145 PD patients（PD group）and 126 people who undertook health exami-nation（control group）in Han population of Shandong Province were analyzed by DNA sequencing and restricted endo-nuclease digestion.PD group included 67 patients with early-onset Parkinson’s disease（EPOD）and 78 patients with late-onset parkinson’s disease （LOPD）.Results There were no significant difference in the three polymorphisms （Ser167Asn,Val380Leu and Arg366Trp）between PD group and control group;In PD group,The allele frequencies in Ser167Asn and Arg366Trp of EOPD patients showed no significant difference with LOPD patients.The allele frequency in Val380Leu of EOPD patients was significantly higher than LOPD patients（P =0.01,OR =3.39,95%CI：1.287-8.931）.Conclusion The three polymorphisms（Ser167Asn,Val380Leu and Arg366Trp）in Parkin gene may be not associated with PD in Han nationality of Shandong province,and Val380Leu may make the onset age of PD in advance.

关 键 词：PARKIN 基因 多态性 帕金森病 山东省 

分 类 号：R742.5[医药卫生—神经病学与精神病学]