摘要
目的遗传因素在帕金森病(Parkinson's disease,PD)的发病因素中起重要作用。其患基因及突变位点具有明显的地域和种族差异。文中研究LRRK2基因多态性位点S1647T与新疆地区维吾尔族和汉族PD患者发病的关系,探讨2个民族S1647T多态性的分布差异。方法对354例临床确诊为帕金森病的患者(汉族183例,维吾尔族171例)和340名正常对照者(汉族180名,维吾尔族160名)进行病例对照研究,应用聚合酶链反应-限制性内切酶片段长度多态性(polymerasechain reaction-restriction length fragment polymorphism,PCR-RFLP)方法对LRRK2基因S1647T位点的基因型和等位基因频率进行分析,并采用DNA直接测序法对检测结果进行验证。结果按民族分层,汉族PD组中TA+AA基因型频率和A等位基因频率高于汉族对照组(χ2=6.441,P=0.04和χ2=5.389,P=0.02),携带A等位基因个体发生PD的风险高于未携带者(OR=1.436 95%CI:1.058～1.950)。维吾尔族PD组和维吾尔族对照组基因型频率和等位基因频率比较,差异无统计学意义(P>0.05)。将汉族PD组和维吾尔族PD组基因型频率和等位基因频率比较,差异有统计学意义(χ2=6.127,P=0.047和χ2=4.299,P=0.038),汉族携带A等位基因个体发生PD的风险高于维吾尔族个体(OR=1.387,95%CI:1.018～1.89)。PD组和对照组中基因型频率和等位基因频率比较差异无统计学意义(P>0.05)。按年龄和按性别分层,比较各组间基因型频率和等位基因频率,差异均无统计学意义(P>0.05)。对等位基因及基因型进行多因素Logistic回归分析,结果显示不同民族A等位基因及AA和TA基因型有差异(P<0.05),其他因素均无影响。结论维吾尔族和汉族LRRK2基因S1647T多态基因型频率及等位基因频率存在差异,其A等位基因可能增加新疆地区汉族人群的PD发病风险,而与维吾尔族人群PD的发生无关。
Objective Inherent factors play the important role in the outbreak of Parkinsong disease. The differences of genotype and mutant site can be found between different regions and races. The aim of this study is to discuss the correlation between LRRK2 gene S1647T polymorphism and Parkinsong disease （PD） and discuss the differences of allele genotypes in Uygur and Han Nationalities. Methods A case-control study was performed, which included 354 PD patients （ 171 cases of Uygur and 181 cases of Han） and 340 controls （160 controls of Uygur and 180 controls of Han）. The LRRK2 gene S1647T polymorphism was analyzed by the methods of polymerase chain-reaction （PCR-RFLP）. Then the results were verified by using the DNA sequencing method. Results The frequencies of TA ＋ AA genotypes and A allele in Han PD group were higher comparing with those in Han control group （ X^2 =6. 441, P=0.04 and X2 =5.389, P =0.02）. Individuals who carried A allele had higher risk than the non-carriers （ OR = 1. 436, 95% CI ： 1. 058 - 1. 950） ; However, there were no differences in allele and genotype frequencies between the Uygur PD and control （P 〉 0.05 ） ; Furthermore, we also found that the TA ＋ AA genotype and A allele frequencies in Han PD group were both higher comparing with those in Uygur PD group （ X^2 = 6. 127, P = 0. 047 and X^2 = 4. 299,P =0.038） ; The Han individual who carried A allele had higher risk than the Uygur individual （ OR = 1. 387, 95% CI： 1. 018 - 1.89）. There were no differences in allele and genotype frequencies between the PD and the control, nor among the age groups or be- tween the gender groups （P 〉 0. 05 ）. The results of the multifactor Logistic regression analysis of alleles and genotypes showed that nothing but the nationality had an influence on A allele and AA or TA genotype （P 〈 0.05 ）. Conclusion The LRRK2 S1647T gene polymorphism between the Uygur and the Han are obviously different; A allele may increase the PD risk of Xinjiang Han people and has nothing to do with the PD occurrence in Uygur population.
出处
《医学研究生学报》
CAS
北大核心
2012年第7期729-733,共5页
Journal of Medical Postgraduates
基金
国家自然科学基金(81160143)
新疆维吾尔自治区自然科学基金(2009211A17)
关键词
帕金森病
LRRK2基因
多态性
维吾尔族
汉族
Parkinson＇s disease
LRRK2 gene
S1647T polymorphism
Uygur nationality
Han nationality
