维族帕金森病与PARK16基因单核苷酸多态性的相关性

Association between PARK16 gene polymorphism and Parkinson disease in Uygur nationality ofChina

目的探讨PARK16基因单核苷酸多态性与新疆维族帕金森病（PD）的相关性。方法对276例维族PD患者和303例同民族无PD的健康体检者，应用聚合酶链反应（PCR）和DNA测序法进行基因分型。采用多因素Logistic回归分析综合评价各因素与维族PD的关系。结果rs947211位点G等位基因频率在PD组和对照组分别为55．1％、46．0％，G等位基因携带个体发生PD的风险明显升高（P〈0．01）。多因素Logistic回归分析显示，GG基因型和农药接触史均是新疆维族PD的独立危险因素[比值比（OR）=1．787，P〈0．01；OR=1．593，P〈0．05]，而吸烟与饮茶为维族PD的独立保护性因素（OR=0．656，P〈0．05；OR=0．619，P〈0．01）。结论PARK16基因rs947211可能与新疆维族人群PD的发生有关，G等位基因可能是PD遗传易感性的基因标记之一。

Objective To investigate the association between PARK16 gene polymorphism and Parkinson disease （PD） in Uygur nationality of Xinjiang autonomous region of China. Methods The geno- typic and allelic frequences of PARK16 gene rs947211 polymorphism were analyzed by using polymerase chain reaction-restricted fragment length polymorphism （PCR-RFLP） and DNA sequencing in order to re search the correlation between PARK16 gene rs947211 single nucleotide polymorphism and PD in 276 PD patients of Uygur nationality and 303 healthy subjects. The factors associated with PD were determined by using multifactor logistic regression. Results The type frequencies for G allele were 55.1% in PD subjects and 46. 0% in control subjects. The carriers of G allele had the significantly higher risk of PD （P 〈 0. 01 ）. The muhifactor logistic regression analysis revealed that GG genotype and history of exposure to pesticides were independent risk factors for PD in Xinjiang Uygnr （ OR = 1. 787, P 〈 0.01 ; OR = 1. 593, P 〈 0. 05 ）, and smoking and tea drinking were protective factors （ OR = 0. 656, P 〈 0. 05 ; OR = O. 619, P 〈 O. 01 ）. Conclusion rs947211 polymorphism of PARK16 gene is associated with PD in this population. The G allele might be an independent risk factor and genetic marker for PD.