LRRK2和RAB7L1基因多态性与新疆维吾尔族帕金森病相关性研究

Correlation between polymorphisms of LRRK2 and RAB7L1 genes and Parkinson's disease in Uygur nationality of Xinjiang autonomous region of China

目的研究LRRK2和RAB7L1基因单核苷酸多态性、环境和饮食因素与新疆维吾尔族帕金森病(PD)的相关性。方法收集2009年7月至2013年8月新疆医科大学附属肿瘤医院138例维吾尔族PD患者(PD组)和155名年龄、民族相匹配、无PD的健康体检者(对照组),运用PCR聚合酶链反应和DNA测序相结合的方法进行基因分型,探讨LRRK2基因rs34637584(G2019S)位点和RAB7L1基因rs823144位点的单核苷酸多态性与维吾尔族PD发生的关系。结果 PD组和对照组相比均未发现LRRK2基因rs34637584位点发生突变;RAB7L1基因rs823144位点CC基因型频率分别为19.6%和20.6%,C等位基因频率在PD组和对照组分别为42.8%和44.8%,两组比较差异无统计学意义(P=0.785)。多因素Logistic回归分析均未发现基因型CC、高血压、糖尿病、冠心病以及文化程度与PD发生有关(P>0.05)。结论 LRRK2基因rs34637584位点及RAB7L1基因rs823144可能与新疆维吾尔族人群PD的发生无关。

Objective To investigate the correlations of LRRK2, RAB7L1 gene polymorphisms, environmental and dietary factors with Parkinson＇s disease （PD） in Uygur nationality of Xinjiang autonomous region of China. Methods There were 138 PD patients of Uygur nationality （PD group） and 155 healthy subjects without PD （control group）, with matched age and ethnicity The genotypic and allelic frequencies ofLRRK2 gene rs34637584 （G2019S） and RAB7L1 gene rs823144 polymorphisms were analyzed by using polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） and DNA sequencing in order to find out the correlation between rs34637584 （rs823144） single nucleotide polymorphism and PD in Uygur nationality. The comprehensive evaluations of the factors associated with PD were determined using multifactor logistic regression. Results There was no mutation in LRRK2 gene rs34637584 and the type frequencies for CC genotype were 19.6% in the PD subjects and 20.6% in the control sub）ects, respectively. The frequencies of C allele were 42.8% and 44.8% in the PD group and the control group, respectively. The difference was not statistically significant （P=0.785）. The multifactor logistic regression analysis showed that CC genotype, hypertension, diabetes, coronary heart disease and the degree of culture factors were not related to PD in the Uygnr nationality. Conclusion LRRK2 gene rs34637584 and RAB7L1 gene rs823144 polymorphisms are not associated with PD in Uygur nationality.