Zhai Zhen-guo, Wang Chen, Yang Yuan-hua, Pang Bao-sen, Xiao Bai, Liu Yan-mei, Mao Yan-ling
Division of Pulmonary Disease, Beijing Institute of Respiratory Medicine, Beijing Chaoyang Hospital, Capital University of Medical Sciences, Beijing 100020, China.
Zhonghua Liu Xing Bing Xue Za Zhi. 2006 Feb;27(2):165-9.
To determine the prevalence of beta-fibrinogen gene -455G/A, -148C/T polymorphisms in Chinese Han population and to investigate whether they were associated with pulmonary thromboembolism (PTE).
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 ventilation/perfusion scan and/or multi-slice 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 -455G/A, -148C/T polymorphisms were examined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Restriction enzyme HaeIII and HindIII digestion were used for detecting -455G/A, -148C/T polymorphisms respectively.
Regarding fibrinogen beta gene -455G/A and -148C/, the allele frequencies G and A of fibrinogen beta -455 in the controls were 0.931, 0.069 while C and T of -148 were 0.777, 0.223 respectively, which were in good agreement with Hardy-Weinberg equilibrium. There was significant difference of -455G/A genotype frequencies distribution of AA, GA, GG between cases and in controls respectively, but no significant difference was found in the -148C/T polymorphisms. The frequencies of mutation allele -455A were 0.193, 0.169 in cases and in controls with P < 0.05 but there was no statistically significant difference of -148T allele. The presence of A allele of fibrinogen beta -455 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 (1.786 - 7.759), 3.749 (1.842 - 7.630), respectively. When compared with GG genotype, the P value was 0.0001.
There was a complete linkage disequilibrium between fibrinogen beta -148C/T and -455G/A found. The frequencies of -455A, alleles in PTE disease were apparently higher than that of healthy adults but there was no difference in -148T alleles.
确定β-纤维蛋白原基因-455G/A、-148C/T多态性在中国汉族人群中的患病率，并探讨它们是否与肺血栓栓塞症（PTE）相关。
研究对象包括101例PTE患者和101例来自同一地理区域、年龄和性别相匹配的健康对照者。所有患者均通过肺通气/灌注扫描和/或多层螺旋CT肺动脉造影的高概率诊断以及病史和临床表现确诊。使用KI-酚-氯仿从全血中提取基因组DNA。通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测纤维蛋白原β基因-455G/A、-148C/T多态性的基因型和等位基因频率。分别使用限制性内切酶HaeIII和HindIII消化检测-455G/A、-148C/T多态性。
关于纤维蛋白原β基因-455G/A和-148C/T，对照组中纤维蛋白原β-455的等位基因频率G和A分别为0.931、0.069，而-148的C和T分别为0.777、0.223，均符合Hardy-Weinberg平衡。病例组和对照组之间-455G/A基因型频率分布在AA、GA、GG之间分别存在显著差异，但在-148C/T多态性方面未发现显著差异。病例组和对照组中突变等位基因-455A的频率分别为0.193、0.169，P<0.05，但-148T等位基因无统计学显著差异。发现纤维蛋白原β-455的A等位基因在病例组中比对照组是更大的危险因素。GA和GA+AA的比值比（OR）分别为3.723（1.786-7.759）、3.749（1.842-7.630）。与GG基因型相比，P值为0.0001。
发现纤维蛋白原β-148C/T和-455G/A之间存在完全连锁不平衡。PTE疾病中-455A等位基因的频率明显高于健康成年人，但-148T等位基因无差异。
