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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 Parkin gene polymorphism and the incidence of Parkinson’s disease (PD) in Shandong Han population. Methods DNA sequencing and restriction endonuclease digestion were used to detect the polymorphism of Parkin gene in 145 patients with PD (PD group) and 126 healthy controls (control group) from Shandong Han population. Ser167Asn, Val380Leu and Arg366Trp), including PD in 67 patients with early-onset Parkinson’s disease (EOPD) and 78 patients with late-onset Parkinson’s disease (LOPD). The frequency of alleles in these three polymorphic sites Significance of PD in the risk of onset. Results There was no significant difference in allele frequencies of Ser167Asn, Val380Leu and Arg366Trp between PD group and control group. The frequency of alleles of Ser167Asn and Arg366Trp in EOPD patients in PD group was also significantly lower than that in LOPD patients (P = 0.01, OR = 3.39, 95% CI: 1.287 ~ 8.931) .Conclusion: There is a significant difference in allele frequency between Val380Leu site and LOPD patients in EOPD patients. Conclusion Polymorphism of Parkin gene Ser167Asn, Val380Leu and Arg366Trp in Shandong Han population may not have a significant correlation with the pathogenesis of PD, and Val380Leu may lead to the early onset of PD.