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[西班牙深静脉血栓形成患者及普通人群中凝血因子V莱顿突变(G1691A)和凝血酶原G20210A等位基因]

[Factor V Leiden (G1691A) and prothrombin-G20210A alleles among patients with deep venous thrombosis and in the general population from Spain].

作者信息

Francès Francesc, Portolès Olga, Gabriel Francisco, Corella Dolores, Sorlí José Vicente, Sabater Antonio, Alfonso José L, Guillén Marisa

机构信息

Unidad de Epidemiología Genética y Molecular, Departament de Medicina Preventiva, Universitat de València, España.

出版信息

Rev Med Chil. 2006 Jan;134(1):13-20. doi: 10.4067/s0034-98872006000100002. Epub 2006 Mar 8.

Abstract

BACKGROUND

Factor V leiden and the -G20210A variant of prothrombin gene are associated to a higher risk of deep venous thrombosis.

AIM

To assess the frequency of factor V Leiden (G1691A) and prothrombin -G20210A alleles in patients with deep venous thrombosis (DVT) and in the general population from Spain.

MATERIAL AND METHODS

Factor V Leiden (g1691a) and prothrombin-g20210a alleles were genotyped in 493 individuals from the Spanish general populations and in 131 patients with DVT. The presence of DVT was confirmed by phlebography. Allelic frequencies and the DVT risk associated with these variants were estimated.

RESULTS

Allelic frequencies for the factor V Leiden (G1691A) allele were 0.019 in patients with DVT and 0.010 in the general population (p=0.235). The frequencies for the prothrombin-G20210A allele were 0.027 and 0.026 (p=0.975). After adjustment for age and gender, the odds ratio for DVT, associated with the presence of G1691A allele was 2.41, but not statistically significant (95% confidence intervals 0.63-9.19).

CONCLUSIONS

Prothrombin-G20210A allele was more prevelant than factor V Leiden (G1691A) allele in the Spanish population. However, the magnitude of the association between the G20210A and DVT risk is very low. On the contrary, the G1691A allele is associated by itself with a two fold increase in DVT risk in this population although without reaching statistical significance due to its low frequency.

摘要

背景

凝血因子V莱顿突变和凝血酶原基因 -G20210A变异与深静脉血栓形成风险增加有关。

目的

评估西班牙深静脉血栓形成(DVT)患者和普通人群中凝血因子V莱顿(G1691A)和凝血酶原 -G20210A等位基因的频率。

材料与方法

对493名西班牙普通人群个体和131名DVT患者的凝血因子V莱顿(g1691a)和凝血酶原 -g20210a等位基因进行基因分型。通过静脉造影确认DVT的存在。估计等位基因频率以及与这些变异相关的DVT风险。

结果

DVT患者中凝血因子V莱顿(G1691A)等位基因频率为0.019,普通人群中为0.010(p = 0.235)。凝血酶原 -G20210A等位基因频率分别为0.027和0.026(p = 0.975)。在对年龄和性别进行校正后,与G1691A等位基因存在相关的DVT优势比为2.41,但无统计学意义(95%置信区间0.63 - 9.19)。

结论

在西班牙人群中,凝血酶原 -G20210A等位基因比凝血因子V莱顿(G1691A)等位基因更为常见。然而,G20210A与DVT风险之间的关联程度非常低。相反,G1691A等位基因本身在该人群中与DVT风险增加两倍相关,尽管由于其频率较低未达到统计学意义。

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