对氧磷酶1基因Gln192Arg多态性与帕金森病的相关性

The correlation between Gln192Arg polymorphism in PON1 gene and Parkinson disease

目的探讨中国汉族人群中对氧磷酶1(PON1)基因Gln192Arg单核苷酸多态性(SNP)与帕金森病(PD)的关系。方法采用等位基因特异性聚合酶链反应(A-S PCR)技术检测186例PD患者和228名健康对照PON1基因Gln192Arg位点SNP的分布,分析各基因型与患者发病年龄和疾病严重程度的关系。结果 PD组和对照组间基因型频率和等位基因频率比较差异均无统计学意义(χ2=0.56,P=0.76;χ2=0.06,P=0.81)。进一步按性别分层分析,两组相同性别间基因型和等位基因频率比较亦未发现有统计学差异存在(P>0.05)。PD患者各基因型与发病年龄和疾病严重程度亦无相关性。结论中国汉族人群中PON1基因Gln192Arg位点SNP与PD无相关性。

Objective To study the relationship between Gln192Arg single nucleotide polymorphism （SNP） in paraoxonase 1 （PON1） gene and Parkinson disease （PD） in Chinese Han population. Methods Gln192Arg SNP in PON1 gene was detected by Real Time PCR （A-S PCR） technique in 186 PD patients and 228 healthy controls. The relation between the age of onset and disease severity was analyzed. Results There was no significant difference in Gln192Arg PON1 genotype or allele frequencies between PD patients and controls （x^2= 0. 56, P=0.76; x^2 =0.06, P=0.81, respectively）. When the PD group and the control group were stratified by sex, no significant difference in Gln192Arg PON1 genotype or allele frequencies was observed between this two groups （P〉0.05）. There was no obvious association between the genotypes and the severity of the disease. Oneway ANOVA showed that PON1 genotype had no effect on the onset age of PD. Conclusions Gln192Arg SNP in PON1 gene was not associated with PD.