THE CONTRIBUTION OF GENES POLYMORPHISM OF THROMBOPHILIA IN CLINICAL VARIABILITY OF HEMORRHAGIC VASCULITIS

Background: The article is devoted to the study of clinical and laboratory characteristics of the current of hemorrhagic vasculitis in children in the Republic of Buryatia. Patients and methods: The study included 27 patients aged 7,6±4,02 years, who conducted clinical and laboratory tests, immunological study of antiphospholipids of antibodies, genetic testing for thrombophilia markers of candidate genes. Results: The results showed that hemorrhagic vasculitis often affects children of Buryat nationality. In 96% of cases there are mixed clinical forms of the disease. 63% of children of hemorrhagic vasculitis preceded by various factors, a higher percentage of infectious diseases. The first clinical symptom in 63% of patients is a typical purpura hemorrhagic rash. Results of clinical laboratory blood tests revealed no significant deviations. Circulation of lupus anticoagulant was detected in 37% of subjects . The аCL IgM detected in 3 children, aβ2-GP-I IgA — in 4 , aβ2-GP-I IgM — in 1 patient. Carriers of thrombophilia polymorphisms were in 95% of children. Noted that homozygous variants of genes polymorphisms of methylenetetrahydrofolateredreductase and plasminogen activator inhibitor-1 correlate with the presence of urinary symptoms and recurrence of the rash. Conclusion: The study shows the risk of recurrent flow of hemorrhagic vasculitis and nefritis of Henoch–Schonlein in children with thrombophilia gene polymorphism.

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Plasminogen activator inhibitor-1 gene polymorphism 4G/4G genotype and lupus nephritis in Chinese patients

Kidney International ◽

10.1046/j.1523-1755.2001.0590041520.x ◽

2001 ◽

Vol 59 (4) ◽

pp. 1520-1528 ◽

Cited By ~ 25

Author(s):

Angela Yee Moon Wang ◽

Peter Poon ◽

Fernand Macmound Lai ◽

Lymee Yu ◽

Paul Cheung Lung Choi ◽

...

Keyword(s):

Lupus Nephritis ◽

Gene Polymorphism ◽

Plasminogen Activator ◽

Plasminogen Activator Inhibitor ◽

Chinese Patients ◽

Plasminogen Activator Inhibitor 1 ◽

Activator Inhibitor

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Detection of plasminogen activator inhibitor-1 (-675 4G/5G) gene polymorphism in women with recurrent abortion

Hematology & Transfusion International Journal ◽

10.15406/htij.2018.07.00203 ◽

2019 ◽

Vol 7 (2) ◽

pp. 41-44

Author(s):

Iglal Youssef Shaala ◽

Akram Abdel Moneim Deghady ◽

Reham Abdel Haleem Abo Elwafa ◽

Tamer Ahmed Hosny ◽

Engy Taher Ammar

Keyword(s):

Gene Polymorphism ◽

Plasminogen Activator ◽

Pregnancy Loss ◽

Recurrent Pregnancy Loss ◽

Plasminogen Activator Inhibitor ◽

Recurrent Abortion ◽

Plasminogen Activator Inhibitor 1 ◽

Uterine Anomalies ◽

Activator Inhibitor ◽

Pai 1

Background: recurrent abortion is considered one of the most common complications that occur during pregnancy and counts for 15% of pregnancies that are recognized clinically. Many causes can be attributed to the recurrent pregnancy loss e.g. chromosomal anomalies, thrombophilic disorders, uterine anomalies, endocrine abnormalities and fetal anomalies. Thrombophilia can be either hereditary or acquired. Multiple genes had been implicated in the pathogenesis of the thrombophilia. Previous studies have indicated that genetic polymorphism of the plasminogen activator inhibitor-1 gene (PAI-1) may be associated with recurrent abortion. Aim: The aim of the present study was to investigate whether plasminogen activator inhibitor-1 (-675 4G/5G) gene polymorphism is associated with the occurrence of recurrent pregnancy loss or not. Methods: DNA samples were collected from sixty six female patients with recurrent abortion (33 primary abortion, 33 secondary abortion) and thirty four healthy controls with normal pregnancy for detection of plasminogen activator inhibitor-1 (-675 4G/5G) gene polymorphism by restriction fragment length polymorphism PCR. Results: there was a significant association between PAI-1(-675 4G/5G) polymorphism and the occurrence of recurrent pregnancy loss. Conclusion: Our results assumed that PAI-1 (-675 4G/5G) polymorphism is associated with recurrent pregnancy loss.

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Plasminogen activator inhibitor-1 gene polymorphism as a risk factor for vascular complications in type 2 diabetes mellitus

Egyptian Journal of Medical Human Genetics ◽

10.1186/s43042-019-0018-1 ◽

2019 ◽

Vol 20 (1) ◽

Cited By ~ 1

Author(s):

Fatma A. Khalaf ◽

Hatem R. Ibrahim ◽

Hanan M. Bedair ◽

Maha M. Allam ◽

Amr A. Elshormilisy ◽

...

Keyword(s):

Diabetes Mellitus ◽

Gene Polymorphism ◽

Vascular Complications ◽

Plasminogen Activator Inhibitor ◽

Diabetic Patients ◽

Plasminogen Activator Inhibitor 1 ◽

Increased Risk ◽

Activator Inhibitor ◽

Pai 1

Abstract Background Diabetes mellitus (DM) can lead to microvascular and macrovascular damages through hyperglycemia that is the main cause of diabetic complications. Other factors such as hypertension, obesity, and hyperlipidemia may worsen or accelerate the others. Several studies have revealed definitive genetic predispositions to the development of type 2 diabetes mellitus (T2DM) and development of vascular complications. This study aimed to address the association between plasminogen activator inhibitor-1 (PAI-1) gene polymorphism and T2DM, and if this gene polymorphism may have a possible role in the development of vascular complications in T2DM. This study is a case control; it included 200 patients with T2DM, 117 patients had no vascular complications, and 83 had previous vascular complications (VCs). One hundred eighty volunteer blood donors were selected as a healthy control group. All patients and controls were subjected to clinical examination, and laboratory investigations included lipid profile, fasting and 2 h blood glucose, complete blood cell count, d-dimer, PAI-1, thrombin activatable fibrinolysis inhibitor (TAFI), and detection of PAI-1 gene polymorphism by real-time polymerase chain reaction (PCR). Results The most prevalent genotype of PAI-1 gene polymorphism in all studied groups, including controls, was 4G/5G with the highest allele frequency as 4G. The 4G/5G and 4G/4G genotypes were associated with increased risk of DM development as compared to 5G/5G genotype. The 4G/5G and 4G/4G genotypes also had a highly significant increased risk of VCs among diabetic patients, as compared to 5G/5G. The 4G allele also was highly associated with DM with VCs. The d-dimer TAFI, PAI-1 showed the highest levels in 4G/5G genotype followed by 4G/4G genotype. The lowest level was expressed in 5G/5G genotype in diabetic patients with and without VCs. The univariable analysis showed that genotypes 4G/5G and 4G/4G were potentially risk factors for development of VCs with T2DM patients. Conclusion This study concludes that the PAI-1 4G/5G polymorphism may be associated with T2DM and may be considered as a risk factor for development of thrombotic events. It may also help in selection and dosing of patients being treated with anticoagulant and fibrinolytic agents. Further large-scale studies are recommended to assess the possible role of environmental factors and gene interactions in the development of T2DM vascular risks.

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