Sharma Saniya, Jamwal Manu, Uppal Varun, Senee Hari Kishan, Jindal Manav, Ahluwalia Jasmina, Das Reena, Varma Neelam, Malhotra Pankaj, Kumar Narender
Department of Hematology, Level 5, Research Block A, Postgraduate Institute of Medical Education and Research (PGIMER), Sector 12, Chandigarh, 160012 India.
Department of Clinical Haematology and Medical Oncology, Postgraduate Institute of Medical Education and Research (PGIMER), Sector 12, Chandigarh, 160012 India.
Indian J Hematol Blood Transfus. 2024 Apr;40(2):331-334. doi: 10.1007/s12288-023-01660-3. Epub 2023 May 8.
A single guanosine deletion/insertion (4G/5G) polymorphism in the promoter region of plasminogen activator inhibitor-1 () gene encoding PAI-1 protein has been investigated in deep vein thrombosis (DVT) patients. The association between polymorphism and increased risk of DVT has been reported in some studies, while others have reported a lack of association. The present study aimed to investigate if the 4G/5G polymorphism is associated with an increased risk of DVT in the Indian population and to assess its association with thrombophilic risk factors. Fifty-two adult patients with a history of chronic or recurrent DVT and 52 healthy adult controls were genotyped for 4G/5G polymorphism. Plasma levels of PAI-1 and other thrombophilic risk factors were also measured. 4G/5G polymorphism was not significantly associated with an increased risk of DVT. Protein C deficiency was significantly associated with the 4G/4G genotype. Patients with the 4G/4G genotype had significantly reduced PAI-1 levels as compared to the controls. 4G/5G polymorphism did not significantly contribute to an increased risk of DVT in the Indian population. However, in the presence of thrombophilic risk factor abnormalities, the risk of DVT is increased in individuals with the 4G/4G genotype in the Indian cohort.
The online version contains supplementary material available at 10.1007/s12288-023-01660-3.
在编码纤溶酶原激活物抑制剂-1(PAI-1)蛋白的纤溶酶原激活物抑制剂-1(PAI-1)基因启动子区域的单个鸟苷缺失/插入(4G/5G)多态性已在深静脉血栓形成(DVT)患者中进行了研究。一些研究报道了PAI-1多态性与DVT风险增加之间的关联,而其他研究则报道缺乏关联。本研究旨在调查4G/5G多态性是否与印度人群中DVT风险增加相关,并评估其与血栓形成倾向危险因素的关联。对52例有慢性或复发性DVT病史的成年患者和52例健康成年对照进行4G/5G多态性基因分型。还测量了血浆PAI-1水平和其他血栓形成倾向危险因素。4G/5G多态性与DVT风险增加无显著关联。蛋白C缺乏与4G/4G基因型显著相关。与对照组相比,4G/4G基因型患者的PAI-1水平显著降低。4G/5G多态性对印度人群中DVT风险增加没有显著影响。然而,在存在血栓形成倾向危险因素异常的情况下,印度队列中4G/4G基因型个体的DVT风险增加。
在线版本包含可在10.1007/s12288-023-01660-3获取的补充材料。