付氧酶基因192Gln/Arg多态性与缺血性脑血管病的关系

目的了解付氧酶基因(PON1)192Gln/Arg多态性在中国人群中的分布,并探讨其与缺血性脑血管病的关系。方法应用病例对照研究,在1 046例缺血性脑血管病(缺血性脑血管病组)和960例无脑血管病(对照组,均无冠心病)人群中采用聚合酶链反应和分子杂交技术检测基因型,将缺血性脑血管病组和对照组基因型和等位基因频率进行χ2检验。结果中国人192Arg等位基因频率为0.60。缺血性脑血管病组192ArgArg基因型与192Arg等位基因频率均明显高于对照组。调整了性别和年龄后,相对于PON1 192 GlnGln纯合子,192ArgArg纯合子患缺血性脑血管病的OR=1.369,95%CI:1.044~1.797(P=0.023),与是否存在糖尿病无关。结论中国人群PON1 192Arg等位基因频率明显高于白种人,192ArgArg基因型与中国人缺血性脑血管病存在相关性。

The relationship between paraoxonase gene 192Gln/Arg polymorphism and ischemic cerebrovascular disease

Objective To ascertain the distribution of 192Gln/Arg polymorphism of paraoxonase gene(PON1) in Chinese population and evaluate the relationship between this polymorphism and ischemic cerebrovascular disease.Methods A case-control study was performed in 1?046 patients with ischemic cerebrovascular disease(ICVD) and 960 controls(without coronary heart disease in both groups).The 192Gln/Arg polymorphism of PON1 gene was determined by polymerase chain reaction(PCR) and molecular hybridization.The frequencies of genotypes and alleles were compared between patients and controls by χ~2 test.Results The 192Arg allele frequency of PON1 gene was 0.60.The frequencies of 192ArgArg genotye and the 192Arg allele were significantly higher in patients with ICVD than in controls.After adjusting for age and gender,those with 192ArgArg monozygotes versus those with 192GlnGln monozygotes had an odds ratio for ICVD of 1.369,95%CI:(1.044～)1.797,P=0.023.The association of 192ArgArg monozygotes with the risk of ICVD was independent of the diabetic status.Conclusions The 192Arg allele frequency of PON1 gene was significantly higher in Chinese than in Caucasian.PON1 192ArgArg genotype was significantly associated with ICVD in Chinese population.