沉默信息调节基因2的microRNA结合位点多态性与散发帕金森病的相关性研究

Relativity between microRNA associated sirtuin 2 gene single-nucleotide polymorphisms and sporadic Parkinson's disease

目的探讨沉默信息调节基因2(Sirtuin 2)3’UTR的microRNA结合位点多态性与散发帕金森病(Parkinson’s disease,PD)的关系。方法采用病例-对照研究、聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法分析了83例PD患者(PD组)与101例健康成人(对照组)Sirtuin 2基因3’UTR G+281A位点多态性。结果 PD组Sirtuin 2基因3’UTR的miRNA-486-3p结合位点(3’UTR G+281A位点)A等位基因频率以及GA+AA基因型频率高于对照组,但两组差异无统计学意义(P>0.05);在女性PD组A等位基因携带者的频率较对照组高,经χ2检验提示有相关倾向(χ2=3.205,P=0.073);PD组出现两例AA基因型,而对照组则无此种基因型。结论 Sirtuin 2基因3’UTR G+281A多态性的纯合子AA可能是PD的遗传易感性基因型,而在女性A等位基因携带者PD患病的风险可能增加。

Objective To explore the relationship of 3＇UTR gene polymorphism of sirtuin2 gene and sporadic Parkinson＇s disease.Methods The 3＇UTR G＋281A polymorphism of sirtuin2 gene was detected in 83 PD case and 101 healthy subjects with polymerase chain reaction（PCR）method and restriction fragment length polymorphism（RFLP）genotyping technique.Results The polymorphism of sirtuin 2 gene 3＇UTR G＋281A was miRNA-486-3p binding sites.The frequencies of A allele or A allele carrier were higher in PD cases than that in controls,but the differences were not significant（P〉0.05）.In female,the frequency of A allele was higher in PD than that in control,and there was a trend association（χ2=3.205,P=0.073）.Furthermore,there were two cases of AA genotype in PD group but none in controls.Conclusion AA genotype of 3＇UTR G＋281A polymorphism of sirtuin 2 gene may be the risk of PD in Chinese Han population,and A allele may be the risk factor of PD in female.