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突尼斯阿拉伯人群中凝血因子VII DNA变异的患病率及其与凝血因子VII血浆水平的关系。

Prevalence in a Tunisian Arabic population of factor VII DNA variants and relation to factor VII plasma levels.

作者信息

Nour Mohamed, Slama Foued Belhaj, Monastiri Kamel, Hammami Mohamed, Helal Ahmed Noureddine

机构信息

Faculty of Medicine, 99-UR/08-39, Monastir, Tunisia.

出版信息

Clin Chim Acta. 2004 Nov;349(1-2):199-202. doi: 10.1016/j.cccn.2004.06.025.

Abstract

BACKGROUND

A raised plasma factor VII (FVII) level is a risk factor for coronary heart disease. DNA variants have been described to be associated with alteration in FVII levels. The prevalence of FVII polymorphisms is unknown in the Tunisian Arab population.

METHODS

In a group of 240 healthy Tunisians, we examined the relationship between levels of FVII coagulant activity (FVIIc) and two polymorphisms in the FVII gene. One polymorphism alters arginine at position 353 to glutamine (R/Q) and the other is a 10 base pair insertion (0/10 bp).

RESULTS

The FVII distribution was in accordance with the Hardy-Weinberg equilibrium. The allele frequencies of Q and 10 bp were 0.212 and 0.235, respectively. There were significant differences in these allelic frequencies between Tunisian and other populations (p<0.001). We observed lower FVIIc levels among subjects with the Q allele compared to RR subjects (RR: 98.17%, RQ/QQ: 57.41%, p<0.0001). For the 0/10 polymorphism, no statistically difference was observed.

CONCLUSION

The prevalence of the Q allele which was found to be associated with lower plasma FVIIc levels is high in Tunisian population. Further analyses should yield information on the protective role of carrying the Q allele for coronary heart disease.

摘要

背景

血浆因子VII(FVII)水平升高是冠心病的一个危险因素。已有研究表明DNA变异与FVII水平的改变有关。突尼斯阿拉伯人群中FVII多态性的患病率尚不清楚。

方法

在一组240名健康的突尼斯人中,我们研究了FVII凝血活性(FVIIc)水平与FVII基因中的两个多态性之间的关系。一个多态性将353位的精氨酸改变为谷氨酰胺(R/Q),另一个是10个碱基对的插入(0/10 bp)。

结果

FVII分布符合哈迪-温伯格平衡。Q和10 bp的等位基因频率分别为0.212和0.235。突尼斯人与其他人群之间的这些等位基因频率存在显著差异(p<0.001)。我们观察到,与RR受试者相比,携带Q等位基因的受试者FVIIc水平较低(RR:98.17%,RQ/QQ:57.41%,p<0.0001)。对于0/10多态性,未观察到统计学差异。

结论

在突尼斯人群中,与较低血浆FVIIc水平相关的Q等位基因患病率较高。进一步的分析应能提供有关携带Q等位基因对冠心病的保护作用的信息。

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