凝血因子ⅩⅢ基因多态性与肺血栓栓塞症的相关性研究

doi:10.3969/j.issn.1006-7795.2013.01.026

首都医科大学学报 ›› 2013, Vol. 34 ›› Issue (1): 134-139.doi: 10.3969/j.issn.1006-7795.2013.01.026

凝血因子ⅩⅢ基因多态性与肺血栓栓塞症的相关性研究

许晓岩¹, 杨媛华¹, 翟振国¹, 庞宝森¹, 王辰²

1. 首都医科大学附属北京朝阳医院北京呼吸疾病研究所, 北京 100020;
2. 卫生部北京医院北京呼吸疾病研究所, 北京 100730

收稿日期:2012-03-21 出版日期:2013-02-21 发布日期:2013-02-25
通讯作者: 王辰 E-mail:cyh-brim@263.net
基金资助:
国家自然科学基金项目(30370614)。

Relationship between the factorⅩⅢ (F Ⅹ Ⅲ ) gene polymorphisms and pulmonary thromboembolism in Chinese Han population

XU Xiaoyan¹, YANG Yuanhua¹, ZHAI Zhenguo¹, PANG Baosen¹, WANG Chen²

1. Beijing Institute of Respiratory Medicine, Beijing ChaoYang Hospital, Capital Medical University, Beijing 100020, China;
2. Beijing Institute of Respiratory Medicine, Beijing Hospital, Ministry of Public Health, Beijing 100730, China

Received:2012-03-21 Online:2013-02-21 Published:2013-02-25
Supported by:
This work was supported by National Natural Science Foundation of China (30370614).

摘要/Abstract

摘要：

目的探讨F Ⅹ Ⅲ A亚基Val34Leu(100G/T)和B亚基His95Arg(8259A/G)多态性与肺血栓栓塞症(pulmonary thromboembolism,PTE)发生的相关性。方法采用病例对照研究。病例组为经核素肺通气/灌注扫描(V/Q)和/或螺旋CT肺动脉造影(computed tomography pulmonary angiography, CTPA)检查确诊的汉族PTE患者114例;对照组为与PTE患者同民族、性别、年龄相匹配的健康对照114人。应用酚-氯仿-异戊醇法提取基因组DNA。应用PCR-RFLP检测F Ⅹ Ⅲ A亚基Val34Leu(100G/T)和B亚基His95Arg(8259A/G)多态性。结果 F Ⅹ Ⅲ A亚基Val34Leu多态性等位基因G和T的频率在对照组和PTE组相同,分别为0.996、0.004;F Ⅹ Ⅲ B亚基His95Arg多态性等位基因A和G的频率在对照组分别为0.956,0.044,PTE组分别为0.987、0.013。基因型分布均符合Hardy-Weinberg平衡定律。F Ⅹ Ⅲ A亚基Val34Leu多态性,在PTE组和对照组均未检测到突变的纯合子TT基因型,各检测到1例突变的杂合子GT基因型,在2组间基因型分布相同。F Ⅹ Ⅲ B亚基His95Arg多态性,在PTE组和对照组均未检测到突变的纯合子GG基因型,AA、AG基因型在PTE组分布为111(97.4%)、3(2.6%),在对照组分布为104(91.2%)、10(8.8%),差异具有统计学意义(P=0.046)。相对于AA基因型而言,AG基因型有减低PTE发生危险的趋势OR=0.281 (95% CI: 0.046~1.050,P=0.046)。结论中国汉族人群中F Ⅹ Ⅲ A亚基Val34Leu多态性少见,该多态性可能对中国汉族人群PTE的发生影响很小。F Ⅹ Ⅲ B亚基His95Arg多态性,突变杂合子AG基因型有减低PTE发生危险的趋势。

关键词: 肺栓塞, 血栓栓塞, 凝血因子ⅩⅢ, 多态性, 单核苷酸

Abstract:

Objective To determine the prevalence of F Ⅹ Ⅲ A Val34Leu (100G/T) and F Ⅹ Ⅲ B His95Arg (8259A/G) polymorphisms in Chinese Han population and to investigate whether they were associated with pulmonary thromboembolism pulmonary thromboembolism(PTE).Methods The subjects consisted of 114 patients with PTE and 114 healthy controls matched in age, sex and race. All patients were diagnosed by lung ventilation/perfusion scan and/or multi-slice CT pulmonary angiography. Genome DNA was extracted from whole blood using phenol-chloroform. Genotypes and allele frequencies of F Ⅹ Ⅲ A Val34Leu (100G/T) and F Ⅹ Ⅲ B His95Arg (8259A/G) polymorphisms were examined by PCR-RFLP. Results Regarding F Ⅹ Ⅲ A Val34Leu and F Ⅹ Ⅲ B His95Arg polymorphisms,the allele frequencies G and T of F Ⅹ Ⅲ A Val34Leu in the controls were 0.996, 0.004, while A and G of F Ⅹ Ⅲ B His95Arg were 0.956, 0.044 respectively, which were in good agreement with Hardy-Weinberg equilibrium. The genotype TT (Leu/Leu) of F Ⅹ Ⅲ A Val34Leu polymorphisms was not detected. The distributions of genotype GG (Val/Val), GT (Val/Leu) were similar between the patients and controls. The genotype GG (Arg/Arg) of F Ⅹ Ⅲ B His95Arg polymorphisms was not detected. The genotype AG (His/Arg) was a protective factor for PTE patients (OR=0.281, 95%CI: 0.075-1.050( P=0.046). Conclusion The allele T (Leu) of F Ⅹ Ⅲ A Val34Leu polymorphism is rare and may be not association with PTE in Chinese Han population. The genotype AG (His/Arg) of F Ⅹ Ⅲ B His95Arg may be a protective factor for PTE patients.

Key words: pulmonary embolism, thromboembolism, factor ⅩⅢ, polymorphism, single nucleotide

中图分类号:

R563.5

许晓岩, 杨媛华, 翟振国, 庞宝森, 王辰. 凝血因子ⅩⅢ基因多态性与肺血栓栓塞症的相关性研究[J]. 首都医科大学学报, 2013, 34(1): 134-139.

XU Xiaoyan, YANG Yuanhua, ZHAI Zhenguo, PANG Baosen, WANG Chen. Relationship between the factorⅩⅢ (F Ⅹ Ⅲ ) gene polymorphisms and pulmonary thromboembolism in Chinese Han population[J]. Journal of Capital Medical University, 2013, 34(1): 134-139.

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凝血因子ⅩⅢ基因多态性与肺血栓栓塞症的相关性研究

Relationship between the factorⅩⅢ (F Ⅹ Ⅲ ) gene polymorphisms and pulmonary thromboembolism in Chinese Han population

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