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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 study the association between single nucleotide polymorphisms of LRRK2 and RAB7L1 genes, environmental and dietary factors and Parkinson’s disease (PD) in Uygur in Xinjiang. Methods A total of 138 PD patients (PD group) and 155 age-matched and non-PD healthy subjects (control group) from July 2009 to August 2013 in Cancer Hospital Affiliated to Xinjiang Medical University were enrolled in this study. Enzyme-linked reaction and DNA sequencing. The relationship between single nucleotide polymorphisms of rs34637584 (G2019S) and rs823144 of RAB7L1 gene and the occurrence of Uygur PD were investigated. Results The rs34637584 locus of LRRK2 gene was not found in PD group and control group. The frequencies of CC genotypes in rs823144 locus of RAB7L1 gene were 19.6% and 20.6%, respectively. The frequencies of C allele in PD group and control group were 42.8 % And 44.8% respectively. There was no significant difference between the two groups (P = 0.785). Multivariate logistic regression analysis found no genotype CC, hypertension, diabetes, coronary heart disease and education level and the occurrence of PD (P> 0.05). Conclusion The rs34637584 locus of LRRK2 gene and rs823144 of RAB7L1 gene may not be related to PD in Xinjiang Uygur population.