文章摘要
翟振国,王辰,杨媛华,庞宝森,肖白,刘艳梅,毛燕玲.纤维蛋白原β链启动子区域基因多态性与中国汉族人群肺血栓栓塞症相关性的病例对照研究[J].中华流行病学杂志,2006,27(2):165-169
纤维蛋白原β链启动子区域基因多态性与中国汉族人群肺血栓栓塞症相关性的病例对照研究
Study on the relationship between polymorphisms of susceptible genes in coagulation pathway related to pulmonary thromboembolism in Chinese Han population
投稿时间:2005-10-13  
DOI:
中文关键词: 肺血栓栓塞症;纤维蛋白原;基因多态性;单核苷酸多态性
英文关键词: Pulmonary thromboembolism;Fibrinogen beta;Gene polymorphism;Single nucleotidepolymorphism
基金项目:国家自然科学基金资助项目(30370614)
作者单位E-mail
翟振国 100020 首都医科大学附属北京朝阳医院北京呼吸疾病研究所  
王辰 100020 首都医科大学附属北京朝阳医院北京呼吸疾病研究所 cyh-birm@263.net 
杨媛华 100020 首都医科大学附属北京朝阳医院北京呼吸疾病研究所  
庞宝森 100020 首都医科大学附属北京朝阳医院北京呼吸疾病研究所  
肖白 100020 首都医科大学附属北京朝阳医院北京呼吸疾病研究所  
刘艳梅 100020 首都医科大学附属北京朝阳医院北京呼吸疾病研究所  
毛燕玲 100020 首都医科大学附属北京朝阳医院北京呼吸疾病研究所  
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中文摘要:
      目的探讨纤维蛋白原基因β链启动子区域-455G/A、-148C/T多态性与中国汉族人群肺血栓栓塞症(PTE)发生的相关性。方法采用病例对照研究,病例组为经放射性核素肺通气/灌注显像和(或)螺旋CT肺动脉造影(CTPA)检查并结合临床资料确诊的PTE患者101例;对照组为与PTE患者来自相同地区汉族人群,性别、年龄相匹配的健康对照101人。应用碘化钾-氯仿-异丙醇法提取基因组。应用聚合酶链反应(PCR)、HaeⅢ限制性内切酶、HindⅢ限制性内切酶分别检测纤维蛋白原β-455G/A、-148C/T多态性位点。结果(1)健康对照人群纤维蛋白原-455位点等位基因G和A的频率分别为0.931、0.069,-148位点等位基因C和T的频率分别为0.777、0.223,基因型分布均符合Hardy-Weinberg平衡定律。(2)-455G基因AA、GA、GG基因型在PTE病例组分布为3(3.0%)、33(32.7%)、65(64.4%),在对照组分布为1(1%)、12(11.9%)、88(87.1%),χ2=14.258,差异有统计学意义;-148C基因TT、CT、CC的分布在病例组和对照组差异无统计学意义。(3)-455A等位基因在病例组与对照组分别为0.193、0.169,两组比较χ2=13.573,差异有统计学意义;-148T等位基因在病例组与对照组差异无统计学意义。(4)进行单变量logistic回归探讨β-455G/A基因多态性与PTE的关系,相对于GG基因型而言,GA杂合型与GA+AA均能显著增加PTE发生的危险性,OR值(95%CI)分别为3.723(1.786~7.759)、3.749(1.842~7.630),P<0.05。在β-148C/T基因多态性中,相对于CC基因型而言,CT+TT、TT、CT基因型都没有显著增加个体PTE发生的危险。结论纤维蛋白原β链启动子区域-455G/A基因多态性可能与PTE有关,GA杂合型与GA+AA型与PTE发生显著相关,A等位基因可能是与PTE发病有关的遗传因素,β-148C/T基因多态性可能与PTE无关。
英文摘要:
      Objective To determine the prevalence of beta2fibrinogen gene 2455GPA, 2148CPT polymorphisms in Chinese Han population and to investigate whether they were associated with pulmonary thromboembolism(PTE). Methods  The subjects consisted of 101 patients with PTE and 101 healthy controls matched with age and sex, from the same geographic area. All patients were diagnosed by high probability of lung ventilationPperfusion scan andPor multi2slice CT pulmonary angiography as well as medical history and clinical manifestations. Genome DNA was extracted from whole blood using KI-phenol-chloroform. Genotypes and allele frequencies of fibrinogen beta gene 2455GPA, 2148CPT polymorphisms were examined by polymerase chain reaction2restriction fragment length polymorphism (PCR2RFL P). Restriction enzyme Hae Ⅲand Hind Ⅲdigestion were used for detecting 2455GPA, 2148CPT polymorphisms respectively. Results Regarding fibrinogen beta gene 2455GPA and 2148CP, the allele frequencies G and A of fibrinogen beta 2455 in the controls were 0. 931, 0. 069 while C and T of 2148 were 0. 777, 0. 223 respectively, which were in good agreement with Hardy-Weinberg equilibrium. There was significant difference of 2455GPA genotype frequencies distribution of AA, GA, GG between cases and in controls respectively, but no significant difference was found in the 2148CPT polymorphisms. The frequencies of mutation allele 2455A were 0. 193, 0. 169 in cases and in controls with P < 0. 05 but there was no statistically significant difference of 2148T allele. The presence of A allele of fibrinogen beta 2455 was found to be a greater risk factor in cases than in controls. The odds ratio (OR) of GA and GA + AA were 3. 723(1. 78627. 759),3. 749 (1. 84227. 630),respectively. When compared with GG genotype, the Pvalue was 0. 0001. Conclusion  There was a complete linkage disequilibrium between fibrinogen beta 2148CPT and 2455GPA found. The frequencies of 2455A, alleles in PTE disease were apparently higher than that of healthy adults but there was no diferrence in 2148T alleles.
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