【作者】 裴静；

【导师】 张小宁；

【作者基本信息】 新疆医科大学 ， 神经病学， 2011， 硕士

【摘要】 目的：探讨新疆地区维吾尔族(以下简称维族)、汉族磷酸二酯酶4D基因(phosphodiesterase 4D, PDE4D) SNP83多态性与缺血性脑血管疾病(Ischemic cerebral vascular disease, ICVD)的关系。方法：选取新疆部分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：1)PDE4D基因SNP83的基因型在病例组(维族x2=0.028,P>0.05;汉族x2=1.945,P>0.05)和对照组(维族x2=4.555,P>0.05；汉族x2=8.690,P>0.05)中均符合Hardy-Weinberg平衡定律；2)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)；3)新疆维、汉两民族间比较,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)。在汉族人群中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)。且在汉族携带C等位基因个体发生缺血性脑血管疾病的危险性高于携带T等位基因个体,其OR值为2.679(P<0.05)。而在维族人群中病例组与对照组间基因型频率和等位基因频率分布差异无统计学意义；4)按性别进行分层,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)。而在女性病例组与女性对照组间基因型频率和等位基因频率分布差异无统计学意义;5)按照有无高血压病史进行分层,在无高血压病史ICVD组与对照组PDE4D基因SNP83位点基因型和等位基因频率分布差异无统计学意义(P>0.05)；而在有高血压病史ICVD组与对照组PDE4D基因SNP83位点基因型和等位基因频率分布差异有统计学意义(P<0.05),并发现伴高血压病史携带C等位基因的个体发生ICVD的危险性显著增加,其OR值为5.202(P<0.05)。而无高血压病史ICVD组与对照组PDE4D基因SNP83位点基因型和等位基因频率分布差异无统计学意义,未发现携带C等位基因的个体发生ICVD的危险性增加。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、同时伴有高血压病史及男性人群中PDE4D基因SNP83多态性与缺血性脑卒中的发病风险存在关联。更多还原

【Abstract】 Objective:To investigate the relationship of the PDE4D gene SNP83 polymor-phisms and ICVD between Uygurs and Hans population in Xinjiang. Methods:207 ICVD patients (98Hans,109Uygurs) and 216 healthy controls (99 Hans,110 Uygurs) are collected in xinjiang.The polymorphism of the PDE4D gene were determined by the PCR-restriction fragment length polymorphism technique. The case-control analysis was adopted to analyze the frequencies of genotypes and alleles. Results:1) The genotypes of PDE4D gene were consistent with Hardy-Weinberg equilibrium in both ICVD group (Uygurs:χ2=0.028, P>0.05 Han:χ2=1.945, P>0.05) and control group (Uygurs:χ2=4.555, P>0.05 Han:，χ2=8.69, P>0.05).2) There is statistical difference in the distribution of genotypes and allele frequency of PDE4D gene between ICVD group and control group (P<0.05).3) Divided by nation, the frequencies of CC genotype and C allele in Han patients is higher than that in Han controls (P<0.05), which has statistical difference; while there is no statistical difference in the distribution of the genotypes and allele frequency between Uygur’s ICVD group and control group.4) Divided by sex, the frequencies of genotypes and alleles of the PDE4D gene in male patients are higher than that in male controls (P<0.05), and the male individual carrying the C allele has a notably increasing occurrence of ICVD (OR=6.486, P<0.05); while there is no statistical difference in the distribution of genotypes and allele frequency between female-ICVD group and female-control group.5) Divided by the history hypertension, the distribution of genotypes and allele frequency of the PDE4D gene has statistical difference between the ICVD group who have the history of hypertension and the control group who have the history of hypertension (P<0.05), and the individual carrying C allele among them has a notably increasing occurrence of ICVD (OR=5.202,P<0.05); while there is no statistical difference in the distribution of genotypes and allele frequency between ICVD group who have no the history of hypertension and control group who have no the history of hypertension. Conclusion:PDE4D gene SNP83 polymorphisms have statistical differences between Chinese XinJiang Uygurs and Hans population.There might be an association between PDE4D gene SNP83 polymorphisms and the morbidity risk of ICVD among the population, who are Hans, or who are male, who have the history of hypertension.更多还原