Shafia Syed, Zargar Mahrukh H, Khan Nabeela, Ahmad Rehana, Shah Zafar Amin, Asimi Ravouf
Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, J&K PIN: 190011, India.
Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, J&K PIN: 190011, India.
Gene. 2018 May 15;654:1-9. doi: 10.1016/j.gene.2018.02.031. Epub 2018 Feb 14.
The genetic variants of the factor V (G1691A), prothrombin (G20210A) and MTHFR (C677T) genes have been widely implicated as inherited risk factors for developing venous thrombosis. This study was undertaken to reveal the frequency of these mutations in Kashmiri patients with venous thromboembolism.
A case-control study was designed with 250 VTE patients and 250 healthy controls. The mutations were analysed using ARMS-PCR and PCR-RFLP approach.
The factor V Leiden G1691A mutation was found in 17/250 (6.8%) VTE patients and prothrombin G20210A mutation was found in 7/250 (2.8%) VTE patients while no mutation was found in any of the healthy controls. Both the mutations were found to be significantly associated with the increased risk of VTE (p = 0.0001 and 0.0150 respectively) while no association of VTE risk with MTHFR C677T polymorphism was found (p = 0.53).
The increased frequency of factor V Leiden G1691A and prothrombin G20210A mutation in VTE patients indicates a significant role of these mutations in the development of VTE in our population. We therefore suggest the routine screening of these two mutations as thrombophilic markers in Kashmiri patients with venous thromboembolism.
凝血因子V（G1691A）、凝血酶原（G20210A）和亚甲基四氢叶酸还原酶（MTHFR，C677T）基因的遗传变异已被广泛认为是静脉血栓形成的遗传性危险因素。本研究旨在揭示克什米尔静脉血栓栓塞患者中这些突变的频率。
设计了一项病例对照研究，纳入250例静脉血栓栓塞（VTE）患者和250例健康对照。采用扩增阻滞突变系统聚合酶链反应（ARMS-PCR）和聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法分析突变情况。
在250例VTE患者中，发现17例（6.8%）存在凝血因子V莱顿（Factor V Leiden）G1691A突变，7例（2.8%）存在凝血酶原G20210A突变，而在任何健康对照中均未发现突变。发现这两种突变均与VTE风险增加显著相关（p值分别为0.0001和0.0150），而未发现VTE风险与MTHFR C677T多态性有关（p值为0.53）。
VTE患者中凝血因子V莱顿G1691A和凝血酶原G20210A突变频率增加，表明这些突变在我国人群VTE发生中起重要作用。因此，我们建议对克什米尔静脉血栓栓塞患者常规筛查这两种突变作为易栓症标志物。
