磷酸二酯酶4D基因SNP83位点与新疆维吾尔族、汉族缺血性脑血管疾病的相关性

Relationship between SNP 83 of phosphodiesterase 4D gene and ischemic cerebrovascular diseases in Xinjiang Uygur and Han population

目的探讨新疆维吾尔族、汉族磷酸二酯酶4D基因(phosphodiesterase 4D,PDE4D)SNP83位点与缺血性脑血管疾病(ischemic cerebral vascular disease,ICVD)的关系。方法选取新疆地区缺血性脑血管疾病患者207例(维吾尔族109例,汉族98例)与正常对照组216例(维吾尔族110例,汉族106例),应用聚合酶链反应-限制性片段长度多态性技术检测PDE4D基因SNP83位点多态性,采用病例-对照的关联分析方法进行基因型和等位基因频率分布。结果新疆维、汉两民族PDE4D基因SNP83的基因型和等位基因频率在病例组与对照组间的分布差异有统计学意义(P<0.05);汉族病例组与对照组的基因型和等位基因分布频率差异有统计学意义(P<0.05)。男性病例组中PDE4D基因SNP83基因型分布频率和等位基因频率显著高于男性对照组(P<0.05),并发现携带C等位基因的个体发生缺血性脑血管疾病的危险性显著增加,其OR值为6.486(P<0.05)。结论新疆维吾尔族和汉族之间PDE4D基因SNP83多态性存在差异,并发现在汉族、男性人群中PDE4D基因SNP83多态性与缺血性脑卒中的发病风险存在关联。

Objective To investigate the relationship of the PDE4D gene SNP83 polymor- phisms with is- chemic cerebrovascular diseases （ICVD） between Uygur and Han population in Xinjiang. Methods two hundred and seven ICVD patients （98Hans, 109Uygurs） and 216 healthy controls （99Hans, 110 Uygnrs） were recruited in xin- jiang. The polymorphisms of the PDE4D gene were determined by using the PCR-restriction fragment length polymor- phism technique. The case-control analysis was used to analyze the frequencies of genotypes and alleles. Results There were statistical differences in the distribution of genotypes and allele frequency of PDE4D gene between ICVD group and control group （P 〈 0.05）. The frequencies of CC genotype and C allele in Han patients were higher than those in Han controls （P 〈 0.05）. The frequencies of genotypes and alleles of the PDE4D gene in male patients were higher than those in male controls （P 〈 0.05）, and the male individual carrying the C allele had a notably increasing occurrence of ICVD （OR = 6.486, P 〈 0.05）. Conclusion PDE4D gene SNP 83 polymorphisms are statistically different between Chinese XinJiang Uygur and Han population. The association of PDE4D gene SNP83 polymorphisms with risk of ICVD is significant in Han population, male or patients with the history of hypertension.