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日本人血浆凝血因子VII活性的遗传决定因素

Genetic determinants of plasma factor VII activity in the Japanese.

作者信息

Kario K, Narita N, Matsuo T, Kayaba K, Tsutsumi A, Matsuo M, Miyata T, Shimada K

机构信息

Department of Internal Medicine, Awaji-Hokudan Public Clinic, Hyogo, Japan.

出版信息

Thromb Haemost. 1995 Apr;73(4):617-22.

PMID:7495068
Abstract

We investigated the frequency of the factor VII Gln353 (FVII Gln353) allele in Japan, where coronary artery disease is much less common and factor VII coagulant activity (FVIIc) is lower than in Western countries. Japanese males (n = 144) aged 40-59 years living in 2 different districts were studied, and the FVIIc and activated factor VII (FVIIa) levels were measured with human (FVIIa Hum) and bovine soluble tissue factor (FVIIa Bov). The frequency of the FVII Gln353 allele in the 2 districts was 0.026 and 0.052 (combined: 0.034), which was about one third of that in a European population. Thus, the lower FVIIc level in Japanese is not due to the effect of FVII Gln353 allele. Ten individuals with the Gln353 allele showed a 39% decrease of FVIIa Hum levels and a 29% decrease of the FVIIa Bov level compared with 134 individuals homozygous for the FVII Arg353 allele. These decreases of FVIIa were greater than the decrease of FVIIc (17%), suggesting that FVII Gln353 may be difficult to activate in vivo. The marked decrease of FVIIa levels in individuals with the FVII Gln353 allele suggests that they are genetically protected against cardiovascular disease irrespective of ethnic background, by virtue of their decreased FVIIa level.

摘要

我们调查了日本人群中凝血因子VII谷氨酰胺353(FVII Gln353)等位基因的频率,在日本,冠状动脉疾病的发病率远低于西方国家,且凝血因子VII促凝活性(FVIIc)也低于西方国家。我们对居住在两个不同地区的144名40 - 59岁的日本男性进行了研究,分别用人源(FVIIa Hum)和牛源可溶性组织因子(FVIIa Bov)测定FVIIc和活化凝血因子VII(FVIIa)水平。这两个地区FVII Gln353等位基因的频率分别为0.026和0.052(合并后为0.034),约为欧洲人群的三分之一。因此,日本人较低的FVIIc水平并非由FVII Gln353等位基因的影响所致。与134名FVII精氨酸353(FVII Arg353)等位基因纯合个体相比,10名携带Gln353等位基因的个体FVIIa Hum水平降低了39%,FVIIa Bov水平降低了29%。FVIIa的这些降低幅度大于FVIIc的降低幅度(17%),这表明FVII Gln35可能在体内难以被激活。携带FVII Gln353等位基因个体的FVIIa水平显著降低,这表明无论种族背景如何,他们都因其降低的FVIIa水平而在遗传上对心血管疾病具有保护作用。

相似文献

1
Genetic determinants of plasma factor VII activity in the Japanese.日本人血浆凝血因子VII活性的遗传决定因素
Thromb Haemost. 1995 Apr;73(4):617-22.
2
The strong positive correlation between factor VII clotting activity using bovine thromboplastin and the activated factor VII level.使用牛凝血活酶的凝血因子VII凝血活性与活化凝血因子VII水平之间存在强正相关。
Thromb Haemost. 1995 Mar;73(3):429-34.
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Chin Med J (Engl). 2000 Dec;113(12):1059-63.
4
Weight-loss induced changes in plasma factor VII coagulant activity and relation to the factor VII Arg/Gln353 polymorphism in moderately obese adults.
Thromb Haemost. 1998 Apr;79(4):784-9.
5
Reduced procedural risk for coronary catheter interventions in carriers of the coagulation factor VII-Gln353 gene.凝血因子VII-Gln353基因携带者进行冠状动脉导管介入治疗时手术风险降低。
J Am Coll Cardiol. 2000 Nov 1;36(5):1520-5. doi: 10.1016/s0735-1097(00)00925-6.
6
[Activated factor VII as a new cardiovascular risk factor of atherothrombotic disease].[活化凝血因子VII作为动脉粥样硬化血栓形成疾病的一种新的心血管危险因素]
Rinsho Byori. 1995 Dec;43(12):1201-8.
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Coagulation factor VII, R353Q polymorphism, and serum choline-containing phospholipids in males at high risk for coronary heart disease.凝血因子VII、R353Q多态性与冠心病高危男性血清含胆碱磷脂的关系
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Serum phospholipids are the main environmental determinants of activated factor VII in the most common FVII genotype. European Union Concerted Action "Clotart".
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Clin Chim Acta. 2004 Nov;349(1-2):199-202. doi: 10.1016/j.cccn.2004.06.025.
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Prolonged prothrombin time, Factor VII and activated FVII levels in chronic liver disease are partly dependent on Factor VII gene polymorphisms.
Dig Liver Dis. 2005 Jun;37(6):446-50. doi: 10.1016/j.dld.2005.01.007. Epub 2005 Mar 16.

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Population genetic and phylogenetic evidence for positive selection on regulatory mutations at the factor VII locus in humans.人类凝血因子VII基因座调控突变正选择的群体遗传和系统发育证据。
Genetics. 2004 Jun;167(2):867-77. doi: 10.1534/genetics.103.025726.