BST1基因多态性与中国人群帕金森病发病风险的相关性研究  

Association of BST1 Gene Polymorphism with Parkinson's Disease Risk in Chinese Population

作　　者：崔璨 刘卫国[1] 华平[1] 冯芜若 于翠玉[1] 李鹏 

机构地区：[1]南京医科大学附属脑科医院神经内科,210029 [2]南京大学医学院附属鼓楼医院,210008

出　　处：《中国临床神经科学》2018年第1期1-8,共8页Chinese Journal of Clinical Neurosciences

基　　金：国家自然科学基金(编号:8157050950);江苏省自然科学基金(编号:SBK2015022028)

摘　　要：目的明确BST1基因rs4698412、rs11931532位点的单核苷酸多态性(SNPs)与中国人群帕金森病(PD)发病风险的关系。方法采用病例-对照研究方法,收集江苏地区168例PD患者(PD组)及196例健康对照者(对照组),应用基质辅助激光解吸附电离飞行时间质谱技术对PD患者进行基因型测序,探讨BST1基因rs4698412、rs11931532位点的SNPs与PD发病风险的关系。结果 PD组BST1基因rs4698412位点A等位基因频率与对照组比较,差异有统计学意义(OR=1.38,95%CI:1.02~1.86,P=0.037),PD组AA+AG基因型频率与对照组比较,差异有统计学意义(OR=1.75,95%CI:1.13~2.71,P=0.011)。分层分析结果示早发型PD组AA+AG基因型分布与对照组比较,差异有显著统计学意义(OR=3.12,95%CI:1.23~7.99,P=0.013)。结论 BST1基因rs4698412位点的SNPs与中国人群PD发病有关,A等位基因可能是早发型PD的危险因素。Aim To clarify the relationship between single nucleotide polymorphisms（SNPs） of BST1 gene（rs4698412, rs11931532） and the risk of Parkinson＇s disease（PD） in Chinese population. Methods The relationship between SNPs of BST1 gene and the risk of PD was investigated by case-control study in 168 PD patients and 196 healthy controls of Jiangsu province. Results BST1 rs4698412 locus A allele frequency was significantly different in study group and the control group（P=0.037, OR=1.38, 95% CI： 1.02-1.86）. The frequency of AA ＋ AG genotype was significantly different in study group and the control group（P=0.011, OR=1.75, 95% CI： 1.13-2.71）. The Results of stratified analysis showed that AA＋AG genotype was significantly different in early-onset PD group and the control group（P=0.013, OR=3.12, 95% CI： 1.23-7.99）. Conclusion SNPs of the BST1 gene were associated with the risk of Parkinson＇s disease in China, and the A allele may be a risk factor for early-onset PD.

关 键 词：帕金森病 BST1 基因 rs11931532 rs4698412 单核苷酸多态性 

分 类 号：R742.5[医药卫生—神经病学与精神病学] Q189[医药卫生—临床医学]