Prevalence of the Prothrombin Gene Variant (nt20210A) in Venous Thrombosis and Arterial Disease
Prevalence of the Prothrombin Gene Variant (nt20210A) in Venous Thrombosis and Arterial Disease
复制标题
静脉血栓形成和动脉疾病中凝血酶原基因变异体 (nt20210A) 的患病率
作者：
V. Arruda;J. Annichino;Marilda Gonçalves;F. Costa
由20210位G→A转换导致的凝血酶原基因变异已被描述为静脉血栓形成的常见遗传风险因素。然而，发展动脉疾病的风险是未知的。在这项研究中，我们研究了116例静脉血栓形成患者和71例动脉疾病患者，并与295名对照组进行了比较。此外，我们还调查了凝血酶原等位基因的分布在非洲后裔和亚马逊印第安人从巴西。对照组20210A等位基因的患病率为0.7%，静脉血栓患者中20210A等位基因的患病率为4.3%（P = 0.021）。与对照组相比，在选定的动脉疾病组（5.7%）中，无高脂蛋白血症、高血压和糖尿病的突变等位基因的患病率也很高（P = 0.013）。等位基因20210A的杂合子在非洲人后裔中很常见（2%），在印度人中很少见。这些数据支持凝血酶原变异是静脉血栓形成的危险因素的假设，并表明它也可能是动脉疾病的危险因素。
Summary The prothrombin gene variant resulting form a G→A transition at position 20210 has been described as a common genetic risk factor for venous thrombosis. However, the risk for developing arterial disease is unknown. In this investigation, we studied 116 patients with venous thrombosis and 71 with arterial disease, all of whom were compared with 295 controls. Additionally, we also investigated the distribution of the prothrombin alleles among African descendents and Amazonian Indians from Brazil. The prevalence of 0.7% for 20210A allele in the control group increased to 4.3% (P = 0.021) among patients with venous thrombosis. There was also a high prevalence of the mutated allele in a selected arterial disease group (5.7%) without hyperlipoproteinemia, hypertension, and diabetes mellitus when compared to the controls (P = 0.013). Heterozygotes for the allele 20210A were common among individuals of African descent (2%) and rare among Indians. These data support the hypothesis that the prothrombin variant is a risk factor for venous thrombosis and suggest that it may also be a risk factor for arterial disease.
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影响因子：
2.9
作者：
DAVIE, EW;FUJIKAWA, K;KISIEL, W
通讯作者：
KISIEL, W
DOI：
10.1161/01.atv.12.2.135
发表时间：
1992-02-01
期刊：
ARTERIOSCLEROSIS AND THROMBOSIS
影响因子：
--
作者：
ESMON, CT
通讯作者：
ESMON, CT
DOI：
10.1073/pnas.85.16.6002
发表时间：
1988-08-01
影响因子：
11.1
作者：
CAVALLISFORZA, LL;PIAZZA, A;MOUNTAIN, J
通讯作者：
MOUNTAIN, J
功能性蛋白S缺乏时会出现蛋白S的血浆分布异常。
影响因子：
20.3
作者：
Comp,PC;Doray,D;Patton,D;Esmon,CT
通讯作者：
Esmon,CT