{"title":"Plasminogen Activator Inhibitor-1 4G/5G Promoter Polymorphism in Indian Patients with Deep Vein Thrombosis.","authors":"Saniya Sharma, Manu Jamwal, Varun Uppal, Hari Kishan Senee, Manav Jindal, Jasmina Ahluwalia, Reena Das, Neelam Varma, Pankaj Malhotra, Narender Kumar","doi":"10.1007/s12288-023-01660-3","DOIUrl":null,"url":null,"abstract":"<p><p>A single guanosine deletion/insertion (4G/5G) polymorphism in the promoter region of plasminogen activator inhibitor-1 (<i>PAI-1</i>) gene encoding PAI-1 protein has been investigated in deep vein thrombosis (DVT) patients. The association between <i>PAI-1 4G/5G</i> 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 <i>PAI-1</i> 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 <i>PAI-1</i> 4G/5G polymorphism. Plasma levels of PAI-1 and other thrombophilic risk factors were also measured. <i>PAI-1</i> 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. <i>PAI-1</i> 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.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s12288-023-01660-3.</p>","PeriodicalId":49188,"journal":{"name":"Indian Journal of Hematology and Blood Transfusion","volume":null,"pages":null},"PeriodicalIF":0.7000,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11065813/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian Journal of Hematology and Blood Transfusion","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12288-023-01660-3","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/5/8 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
A single guanosine deletion/insertion (4G/5G) polymorphism in the promoter region of plasminogen activator inhibitor-1 (PAI-1) gene encoding PAI-1 protein has been investigated in deep vein thrombosis (DVT) patients. The association between PAI-1 4G/5G 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 PAI-1 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 PAI-1 4G/5G polymorphism. Plasma levels of PAI-1 and other thrombophilic risk factors were also measured. PAI-1 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. PAI-1 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.
Supplementary information: The online version contains supplementary material available at 10.1007/s12288-023-01660-3.
期刊介绍:
Indian Journal of Hematology and Blood Transfusion is a medium for propagating and exchanging ideas within the medical community. It publishes peer-reviewed articles on a variety of aspects of clinical hematology, laboratory hematology and hemato-oncology. The journal exists to encourage scientific investigation in the study of blood in health and in disease; to promote and foster the exchange and diffusion of knowledge relating to blood and blood-forming tissues; and to provide a forum for discussion of hematological subjects on a national scale.
The Journal is the official publication of The Indian Society of Hematology & Blood Transfusion.