Htra2基因内含子5-59A/G位点多态性与帕金森病的相关性研究

Association of 5-59A/G Polymorphism in Intron Region of Htra2 Gene with Parkinson's Disease

目的探讨粤西地区汉族人群中Htra2(又被称作Omi)基因内含子5-59A/G位点(rs2241027)的单核苷酸多态性(SNP)与帕金森病(PD)的相关性。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,检测56例PD患者和109例健康人的Htra2基因内含子5-59A/G位点多态性的基因型。结果病例组A等位基因频率(46.4%)倾向高于对照组(36.7%)(P=0.073);AA基因型频率(21.4%)亦倾向高于对照组(11.0%)(P=0.072)。经性别分层分析发现,男性AA基因型频率(25.7%)高于对照组(10.3%)(P=0.041);病例组A等位基因频率(48.6%)倾向高于对照组(34.6%)(P=0.051)。结论 5-59A/G位点等位基因A和AA基因型均可能增加PD的发病风险,特别是男性。

Objective To evaluate the association between the single-nucleotide polymorphism （SNP） of the 5-59A/G （rs2241027） of Htra2 gene and Parkinson＇s disease in Han population of the western GuangDong province. MethodsThe restriction fragment length polymorphism （PCR-RFLP） was used to determine the 5-59A/G polymorphism in the intron region of Htra2 gene in the case group （n=56） and healthy control group （n=109）. ResultsA allele frequency of 5-59 A/G in cases （46.4%） was trended to more than that in controls （36.7%） （P=0.073）,as well as the AA genotyping frequency （21.4% vs 11.0%,P=0.072）. For the male,the frequency of AA genotype was significantly more in cases （25.7%） than that in controls （10.3%） （P=0.041）,and the frequency of A allele was trended to more in cases （48.6%） than in controls （34.6%） （P=0.051）. ConclusionA allele and AA genotype of the 5-59A/G （rs2241027） of Htra2 gene may increase the risk of suffering from Parkinson＇s disease,especially for males.