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年轻人基因多态性与复发性深静脉血栓形成风险:前瞻性队列研究

Genetic polymorphisms and risk of recurrent deep venous thrombosis in young people: prospective cohort study.

作者信息

Mansilha A, Araújo F, Severo M, Sampaio S M, Toledo T, Albuquerque R

机构信息

Department of Vascular Surgery, S. João University Hospital, Porto, Portugal.

出版信息

Eur J Vasc Endovasc Surg. 2005 Nov;30(5):545-9. doi: 10.1016/j.ejvs.2005.05.038. Epub 2005 Aug 1.

DOI:10.1016/j.ejvs.2005.05.038
PMID:16061406
Abstract

OBJECTIVE

To determine the incidence of deep venous thrombosis (DVT) recurrence in young people, and its association with some genetic polymorphisms (FV G1691A, FII G20210A, MTHFR C677T, PAI-1 4G/5G).

DESIGN

Prospective cohort study.

METHODS

A database was established prospectively to follow-up a cohort of unselected patients who had had a first episode of objectively proven DVT under the age of 40 years. All patients had DNA analysis for heritable thrombophilia. We excluded patients with deficiency of antithrombin, protein C or protein S, malignant disease, antiphospholipid syndrome, or a requirement for long-term antithrombotic treatment. The end-point was objective evidence of symptomatic DVT recurrence.

RESULTS

Eighty-seven patients were enrolled in the study. Mean duration of follow-up was 4.07 years. At 2 years, the cumulative recurrence rate was 19.3%. The risk of risk was not related to presence or absence of laboratory evidence of genetic polymorphisms: FV G1619A (HR 1.26 [95%CI: 0.64-2.46]; p = 0.51), FII G20210A (HR 0.81 [95%CI: 0.35-1.89]; p = 0.62), MTHFR C677T (HR 1.26 [95%CI: 0.56-2.81]; p = 0.58), PAI-1 4G/5G (0.84 [95%CI: 0.35-2.05]; p = 0.71).

CONCLUSION

In this study, the risk of recurrent deep venous thrombosis in young people was not related with the presence of FV G1691A, FII G20210A, MTHFR C677T or PAI-1 4G/5G polymorphisms.

摘要

目的

确定年轻人深静脉血栓形成(DVT)复发的发生率,及其与某些基因多态性(FV G1691A、FII G20210A、MTHFR C677T、PAI-1 4G/5G)的关联。

设计

前瞻性队列研究。

方法

前瞻性建立一个数据库,对一组40岁以下首次发生经客观证实的DVT的未选择患者进行随访。所有患者均进行遗传性易栓症的DNA分析。我们排除了抗凝血酶、蛋白C或蛋白S缺乏、恶性疾病、抗磷脂综合征或需要长期抗血栓治疗的患者。终点是有症状的DVT复发的客观证据。

结果

87例患者纳入研究。平均随访时间为4.07年。2年时,累积复发率为19.3%。复发风险与基因多态性的实验室证据是否存在无关:FV G1619A(HR 1.26 [95%CI:0.64-2.46];p = 0.51)、FII G20210A(HR 0.81 [95%CI:0.35-1.89];p = 0.62)、MTHFR C677T(HR 1.26 [95%CI:0.56-2.81];p = 0.58)、PAI-1 4G/5G(0.84 [95%CI:0.35-2.05];p = 0.71)。

结论

在本研究中,年轻人复发性深静脉血栓形成的风险与FV G1691A、FII G20210A、MTHFR C677T或PAI-1 4G/5G多态性的存在无关。

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