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凝血因子Ⅶ基因R353Q、-323 0/10bp多态性与冠心病的相关性及在宁夏回、汉族人群中的分布特点

《心脏杂志》[ISSN:1009-7236/CN:61-1268/R]

期数:
2010年第1期
页码:
59-63
栏目:
基础研究
出版日期:
2010-01-04

文章信息/Info

Title:
Relationship between FVII gene polymorphism and coronary heart disease in Hui and Han populations in Ningxia
作者:
沙勇; 黄晖; 贾绍斌; 陈树兰; 王学忠; 张金莉; 白向荣
宁夏医科大学附属医院心脏中心，宁夏 银川 710054
Author(s):
SHA Yong;  HUANG Hui;  JIA Shao-bin;  CHEN Shu-lan;  WANG Xue-zhong;  ZHANG Jin-li;  BAI Xiang-rong
Center of Cardiology, Affiliated Hospital to Ningxia Medical College, Yinchuan 750004, Ningxia, China
关键词:
凝血因子Ⅶ; 基因多态性; 冠状动脉疾病; 宁夏; 回族; 汉族
Keywords:
coronary disease;  coagulation factor VII;  polymorphism;  NingXia;  Hui;  Han
分类号:
Q344.13
DOI:
-
文献标识码:
A
摘要:
目的: 探讨血浆凝血因子Ⅶ(coagulation factor Ⅶ，FⅦ）水平及其基因的多态性与回、汉族人群冠心病的关系。方法: 采用候选基因及病例-对照研究的方法，以聚合酶链反应及限制性片段长度多态性技术，对420例回族冠心病患者及508名回族健康者，以及600例汉族冠心病患者和604例汉族健康者行FⅦ基因的R353Q、-323 0/10 bp多态性分析并确定基因型，同时采用重组可溶性组织因子法测定血浆FⅦa水平。结果: ①回、汉族冠心病组血浆FⅦa水平显著高于回、汉族对照组，经检验有显著差异（P<0.01）；回、汉族急性心肌梗死（AMI）组血浆FⅦa水平均高于不稳定型心绞痛（UAP）组（P<0.01）。②回族组与汉族组相比FⅦ基因的R353Q、-323 0/10 bp多态性存在统计学差异（P<0.01）。③回族冠心病组Q/Q基因型和Q等位基因频率明显少于对照组（P<0.01），10/10基因型比例高于对照组（P=0.01），但10等位基因频率低于对照组（P<0.05）；汉族冠心病组10/10基因型及10等位基因频率低于对照组（P<0.01）。④回族AMI组R/Q＋Q/Q基因型及Q等位基因频率显著低于UAP组（P<0.01）；汉族 AMI组10/10＋0/10基因型及10等位基因频率显著低于UAP组（P<0.01）。⑤血浆FⅦa水平与回族组FⅦR353Q基因多态性显著相关，RR基因型血浆FⅦa水平高于R/Q及Q/Q基因型(P<0.05)。结论: ① 回、汉族人群中存在FⅦ基因的R353Q、-323 0/10 bp多态性；②回族冠心病患者血浆FⅦa水平受其基因的R353Q多态性影响，Q等位基因可能是回族人群心肌梗死的遗传保护因子；③-323 0/10 bp多态性可能在汉族人群冠心病的的发生发展中起一定作用。
Abstract:
AIM: To investigate the association of activated coagulation factor VII (FVIIa) as well as its gene R353Q and -323 0/10 bp polymorphism with coronary heart disease (CHD) in Hui and Han populations in Ningxia. METHODS: Four hundred twenty Hui patients and 600 Han patients with angiographically confirmed CHD, and 508 Hui healthy blood donors and 604 Han healthy blood donors (control groups) were included in the study. Plasma levels of coagulation factor VII were detected using recombinant tissue factor method and the coagulation factor VII gene R353Q, and -323 0/10 bp genotypes were identified by polymerase chain reaction amplified genomic DNA method. RESULTS: Plasma FVIIa levels were significantly higher in Hui or Han patients with coronary heart disease compared with those in respective control group (P<0.01). Plasma FVIIa levels in the subgroup of acute myocardial infarction (AMI) were significantly higher than in the subgroup of unstable angina pectoris (UAP). Significant difference in FVII gene R353Q and -323 0/10 bp polymorphism was found between Hui and Han populations. Significant difference was found in the distribution of R353Q and -323 0/10 bp genotype and allelic frequencies between Hui CHD patients and their controls, and such was also the case in the distribution of -323 0/10 bp genotype and allelic frequencies between Han CHD patients and their controls (P<0.01). R353Q in AMI group was lower than in UAP group in Hui population (P<0.01), and -323 0/10 bp was also significantly lower in AMI group compared with UAP group in Han population (P<0.01). Plasma FVIIa level was significantly higher in RR genotype than in RQ and QQ genotypes in Hui population. CONCLUSION: Plasma FVIIa levels in CHD patients are significantly higher than those of healthy subjects and plasma FVIIa levels are positively correlated with the development of CHD. R353Q and -323 0/10 bp polymorphisms of the FVII gene exist in Hui and Han populations. Plasma FVIIa levels may be influenced by the R353Q polymorphism of CHD, and the Q allele may be a protective factor against myocardial infarction in Hui population. Polymorphism -323 0/10 bp may be associated with CHD in Han population.

参考文献/References

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［4］ Lane A, Green F, Scarabin PY, et al. FactorⅦArg/Gln353 polymorphism determines factor coagulant activity in patients with myocardial infarction(MI) and control subjects in Belfast and in France but is not a strong indicator of MI risk in the ECTIM study［J］. Atherosclerosis, 1996, 119(1):119-127.

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［7］ Humphries S, Temple A, Lane A, et al. Low plasma levels of factor Ⅶc and antigen are most strongly associated with the 10 base pair promoter (-323) insertion than the Glutamine 353 variant［J］. Thromb Haemost, 1996, 75(4):567-572.

［8］ 胡豫，徐丹梅，孙春艳，等. 冠心病患者凝血因子Ⅶ- 323 0/10 bp基因多态性的检测［J］. 临床心血管病杂志， 2005, 21（12）:705-707.

备注/Memo

备注/Memo:
收稿日期：2008-10-17.基金项目：宁夏回族自治区教育厅基金项目(J200555) 通讯作者：沙勇，主任医师，主要从事冠心病基因多态性研究Email:shayong1965@163.com
更新日期/Last Update: 2010-01-05