Candidate genetic markers and the risk of restenosis after coronary angioplasty

2004 ◽  
Vol 106 (1) ◽  
pp. 35-42 ◽  
Author(s):  
Henry VÖLZKE ◽  
Rita GRIMM ◽  
Daniel M. ROBINSON ◽  
Birger WOLFF ◽  
Christian SCHWAHN ◽  
...  
Keyword(s):  
Coronary Angioplasty ◽  
Gene Polymorphisms ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Plasminogen Activator Inhibitor ◽  
Percutaneous Transluminal Coronary Angioplasty ◽  
Factor V ◽  
Plasminogen Activator Inhibitor 1 ◽  
Transluminal Coronary Angioplasty ◽  
Pai 1

The aim of the present study was to test for possible associations between candidate gene polymorphisms and the risk of restenosis and recurrent restenosis after percutaneous transluminal coronary angioplasty (PTCA) without stenting. We followed up 511 PTCA patients, and restenosis and recurrent restenosis were defined according to angiographical criteria. Genotyping of the β-fibrinogen -455 G/A, glycoprotein (GP) IIIa PlA1/PlA2, plasminogen activator inhibitor-1 (PAI-1) 4G/5G, factor V Leiden 1691 G/A, tumour necrosis factor α (TNFα) -238 G/A, TNFα -308 G/A, interleukin (IL)-1α -889 C/T, IL-1β -511 C/T, methylenetetrahydrofolate reductase (MTHFR) 677 C/T and endothelial nitric oxide synthase (eNOS) 4 b/a gene polymorphisms was performed by PCR and restriction-fragment-length-polymorphism-based techniques. One hundred and sixty patients (31.3%) developed restenosis and in 130 of these patients, of whom 123 were available for analysis, a second PTCA without stenting was performed. Of these patients, 35 (28.5%) developed recurrent restenosis. None of the investigated genotypes were associated with the risk of restenosis or recurrent restenosis after PTCA. The degree of stenosis before and immediately after PTCA and the severity of the lesion were independent predictors for restenosis after PTCA. In conclusion, there was no association between the β-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFα -238 G/A, TNFα -308 G/A, IL-1α -889 C/T, the IL-1β -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.

scholarly journals Plasminogen Activator Inhibitor-1 (PAI-1) Gene 4G/5G Promoter Polymorphism is Seen in Higher Frequency in the Indian Patients With Deep Vein Thrombosis

2009 ◽  
Vol 16 (2) ◽  
pp. 184-188 ◽  
Author(s):  
Mohammed Suhail Akhter ◽  
Arijit Biswas ◽  
Ravi Ranjan ◽  
Arvind Meena ◽  
Birendra Kumar Yadav ◽  
...  
Keyword(s):  
Factor V Leiden ◽  
Plasminogen Activator Inhibitor ◽  
Factor V ◽  
Plasminogen Activator Inhibitor 1 ◽  
Vein Thrombosis ◽  
Asian Indian Population ◽  
Study Participants ◽  
Deep Vein ◽  
Activator Inhibitor ◽  
Pai 1

Introduction: A number of prothrombotic and fibrinolytic disorders may lead to venous thrombosis. A 4G/5G polymorphism located in the promoter region of plasminogen activator inhibitor-1 (PAI-1) gene has been found to be commonly associated with the levels of PAI-1 and might be a risk factor for deep vein thrombosis (DVT). The aim of this study was to look for the potential association of this polymorphism with DVT in the Asian Indian population. Material and methods: A total of 110 consecutive patients (M:F = 62:48) with idiopathic DVT and equal number of age- and sex-matched healthy controls were the study participants. All study participants were typed for the PAI-1 4G/ 5G polymorphism, factor V Leiden, factor V Hong Kong/Cambridge mutations, and HR2 haplotype. Result: The variant allele for the PAI-1 4G/5G polymorphism showed both genotypic (P = .0013, χ2 = 10.303; odds ratio [OR] = 3.75) as well as allelic association (P = .0004, χ2 = 12.273; OR = 1.99) with DVT. Factor V Leiden and factor V HR2 haplotype were observed in 10 (9.0%) and 13 (11.8%) patients, respectively. None of the study participants showed the factor V Hong Kong Cambridge mutations. Conclusion: Our study shows the association of 4G allele with DVT in Asian Indian population. The higher prevalence of 4G polymorphism in patients with DVT (compared with controls) seen in our study is in concordance with previous reports from the Caucasian population.

scholarly journals Thrombofilias and the risk of recurring pregnancy loss in a Mexican population

2020 ◽  
Vol 11 (6) ◽  
Author(s):  
Vargas Hernández Víctor Manuel ◽  
Luján Irastorza Jesús Estuardo ◽  
Durand Montaño Carlos ◽  
Kava Braverman Alejandro ◽  
Hernández Ramos Roberto ◽  
...  
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Plasminogen Activator Inhibitor ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Plasminogen Activator Inhibitor 1 ◽  
Cross Sectional ◽  
Perinatal Data

Background: Recurrent gestational loss (RPL) is defined by the ESHRE as the loss of 2 or more consecutive pregnancies. The objective of this study is to evaluate the relationship of Factor V Leiden (FVL, G1691A), prothrombin G20210A (PRT, G20210A), methylenetetrahydrofolate reductase G677A (MTHFR C677AT) and plasminogen activator inhibitor-1 (4G/5G) (PAI-1, 4G/5G); with recurrent gestational loss and perinatal data of Mexican women. Material and method: Retrospective, observational and cross-sectional study, which includes 277 pregnancies of 95 women and three groups were formed: 1) Control: deliveries of patients without pregnancy loss, without problems during the development of pregnancy and with a study of hereditary thrombophilias, 2) idiopathic fetal death : Deliveries of patients with idiopathic gestational loss (=1) and with study of thrombophilias, and 3) recurrent pregnancy loss. Deliveries of patients with idiopathic recurrent pregnancy loss and with study of hereditary thrombophilias; patient data was collected; age, weight and height, newborn data, weeks of gestation, weight and height, which are reported with mean ± standard error and analyzed with the student's t test, and thrombophilias, cesarean sections, deliveries and spontaneous abortions are reported in percentages and analyzed with chi2, in both cases the SPSS version 25 statistical package was used. Results: Of the 95 women included there were no significant differences in age, weight and height in the different rates of each group; one of the thrombophilias to be evaluated in the different populations, it was observed that FVL-G1691A only occurs in recurrent pregnancy loss (15.4%); the translation of homozygous and heterozygous, it was observed that FVL-G1691A only appeared in recurrent pregnancy loss, perinatal data showed a decrease in the weeks of gestation in newborns of mothers with recurrent pregnancy loss, with a decrease in weight and size. Conclusions: the presence of inherited maternal thrombophilias increases the risk of recurrent pregnancy loss, premature birth, and decreased weight and height at birth.

scholarly journals Plasminogen activator inhibitor-1 4G/5G polymorphism, factor V Leiden, prothrombin mutations and the risk of VTE recurrence

2015 ◽  
Vol 114 (12) ◽  
pp. 1156-1164 ◽  
Author(s):  
Kristina Sundquist ◽  
Xiao Wang ◽  
Peter J. Svensson ◽  
Jan Sundquist ◽  
Anna Hedelius ◽  
...  
Keyword(s):  
Plasminogen Activator ◽  
Cox Regression ◽  
Reference Group ◽  
Factor V Leiden ◽  
Plasminogen Activator Inhibitor ◽  
Factor V ◽  
Plasminogen Activator Inhibitor 1 ◽  
Cox Regression Analysis ◽  
Activator Inhibitor ◽  
Pai 1

SummaryPlasminogen-activator inhibitor (PAI)-1 is an important inhibitor of the plasminogen/plasmin system. PAI-1 levels are influenced by the 4G/5G polymorphism in the PAI-1 promoter. We investigated the relationship between the PAI-1 polymorphism and VTE recurrence, and its possible modification by factor V Leiden (FVL) and prothrombin (PTM) mutations. Patients (n=1,069) from the Malmö Thrombophilia Study were followed from discontinuation of anticoagulant treatment until diagnosis of VTE recurrence or the end of the study (maximum follow-up 9.8 years). One hundred twenty-seven patients (11.9 %) had VTE recurrence. PAI-1 was genotyped by TaqMan PCR. Cox regression analysis adjusted for age, sex and acquired risk factors of VTE showed no evidence of an association between PAI-1 genotype and risk of VTE recurrence in the study population as a whole. However, by including an interaction term in the analysis we showed that FVL but not PTM modified the effect of PAI-1 genotype: patients with the 4G allele plus FVL had a higher risk of VTE recurrence [hazard ratio (HR) =2.3, 95 % confidence interval (CI) =1.5–3.3] compared to patients with the 4G allele but no FVL (reference group) or FVL irrespective of PAI-1 genotype (HR=1.8, 95 % CI=1.3–2.5). Compared to reference group, 5G allele irrespective of FVL was associated with lower risk of VTE recurrence only when compared with 4G allele together with FVL. In conclusion, FVL has a modifying effect on PAI-1 polymorphism in relation to risk of VTE recurrence. The role of PAI-1 polymorphism as a risk factor of recurrent VTE may be FVL dependent.

scholarly journals Role of plasminogen activator inhibitor-1 gene polymorphisms in osteoporosis: A study in Chinese post-menopausal women

2018 ◽  
Vol 16 ◽  
pp. 205873921876729
Author(s):  
An Wan ◽  
Daodong Liu
Keyword(s):  
Gene Polymorphisms ◽  
Chinese Women ◽  
Plasminogen Activator Inhibitor ◽  
Plasminogen Activator Inhibitor 1 ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Post Menopausal ◽  
Activator Inhibitor ◽  
Pai 1

Osteoporosis is a chronic multifactorial disease characterized by deterioration of bone mass and is vulnerable to bone fracture. Plasminogen activator inhibitor-1 (PAI-1) is an important molecule for maintenance of optimum bone mass. Several single-nucleotide polymorphisms (SNPs) in PAI-1 have been reported to alter PAI-1 expression and/or the translational level. In this report, we explored the possible role of common PAI-1 gene polymorphisms on predisposition to osteoporosis in a Chinese cohort. A total of 364 post-menopausal Chinese women diagnosed of having osteoporosis and 350 healthy females hailing from similar areas were enrolled in this study. Five common SNPs (−844G > A, −6754G/5G, +43G > A, +9785G > A and +11053T > G) were genotyped by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). Relative expression of PAI-1 mRNA and plasma PAI-1 levels were quantified by reverse transcription polymerase chain reaction (RT-PCR) and enzyme-linked immunosorbent assay (ELISA), respectively. Prevalence of homozygous mutant (5G/5G) and minor allele (5G) of PAI-1 (−675 4G/5G) polymorphism was significantly more frequent in patients than in healthy controls (5G/5G: P < 0.0001, odds ratio (OR) = 3.18; 5G: P < 0.0001, OR = 1.65). Both plasma PAI-1 and relative mRNA expression levels were significantly lower in patients compared to healthy controls. Interestingly, the quantity of plasma PAI-1 and mRNA expression was correlated with PAI-1 (−675 4G/5G) polymorphism: subjects with 4G/4G genotype had elevated PAI-1 in comparison to homozygous mutant, and displayed lower quantity of PAI-1 protein and mRNA values. PAI-1 (−675 4G/5G) mutant is associated with susceptibility to development of osteoporosis in post-menopausal Chinese women. Furthermore, this variant in the promoter region alters plasma protein levels and relative expression of PAI-1.

Vascular Thrombosis and Relation to Hemostatic Parameters in Omani Patients with Behcet’s Disease

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 4090-4090
Author(s):  
Anil Pathare ◽  
Juma AlKaabi ◽  
Hamood AlHaddabi ◽  
Salam Alkindi
Keyword(s):  
Plasminogen Activator ◽  
Protein C ◽  
Factor V Leiden ◽  
Plasminogen Activator Inhibitor ◽  
Factor V ◽  
Plasminogen Activator Inhibitor 1 ◽  
Repeat Testing ◽  
Tissue Plasminogen ◽  
Thrombotic Tendency ◽  
Activator Inhibitor

Abstract Background: Behcet’s disease (BD) has been shown to be associated with increased mortality rate in several studies. A significant portion of this mortality (40%) was related to vascular thrombosis. The basis for the thrombotic tendency in BD is not fully understood and studies on hemostatic parameters have been controversial. Objectives: To determine the frequency of vascular events in Omani patients with BD and to study various hemostatic variables that might contribute to this vascular risk in BD. Methods: The study was started after approval by the institutional review board. Blood samples from 34 patients with BD, and 30 healthy controls after an informed consent and were analyzed for several hemostatic parameters including protein C, protein S, AT, factor VIII:C, factor V Leiden, von Willibrand factor antigen, ristocetin and collagen binding activity, Plasminogen, Alpha 2 antiplasmin, tissue plasminogen activator, and Plasminogen activator inhibitor-1. Additionally, anticardiolipin antibodies, anti-B2 glycoprotein antibodies, lupus anticoagulant, homocysteine, ESR, CRP, glucose and lipid profile were also studied. Results: Eight patients with BD had thrombotic events (26%). Of these, 50% were arterial, 25% were venous and 25% had mixed arterial and venous events. The mean values of factors VIII:C, vWF:Ag, Protein C and ATIII were significantly higher in the patient’s group compared to the controls (P&lt;0.05, Mann-Whitney). (Table) There were no deficiencies in protein C, S, or AT and factor V Leiden was absent in these patients. Six patients had elevated FVIII [&gt;150 iu/ml] [p&lt;0.01;Fisher’s exact test]. There were no differences in anti-cardiolipin antibodies, anti-b2-glycoprotein-1 antibodies, lupus anticoagulant, homocysteine, total cholesterol, triglycerides or blood glucose levels, between patients and controls. We found significant correlations between inflammatory markers [ESR, CRP] and factor VIII:C, Anti-thrombin, vWF:Ag;vWF:CBA, vWF:RiCof in the control group but not in the patient group. Furthermore, the elevated factor VIII levels were normalized on repeat testing after 3 months. Comparison of hemostatic parameters in BD patients with thrombosis v/s normal controls [Mean ± SD] Reference Range Patients Controls P value Plasma F VIII:C 50–150[iu/ml] 107 ± 48 78 ± 31 0.017 Functional Protein C Chromogenic 72–154[iu/ml] 125 ± 37 118 ± 25 NS Protein C Clotting 80–181[iu/ml] 139 ± 43 126 ± 32 NS Protien S Functional 52–118[iu/ml] 101 ± 28 83 ± 27 0.008 Antithrombin 83–118[iu/ml] 108 ± 12 100 ± 12 0.022 Plasminogen 73–127[iu/ml] 114 ± 15 114 ± 19 NS Alpha 2 Antiplasmin 89–112[iu/ml] 118 ± 15 116 ± 16 NS Tissue Plasminogen Activator 1–12[ng/ml] 7 ± 3 7 ± 2 NS Plasminogen Activator Inhibitor-1 4–43[ng/ml] 31 ± 21 38 ± 33 NS Plasma vWF:Ag 50–158[iu/ml] 102 ± 34 83 ± 25 0.008 Plasma vWF:RiCof 40–150[iu/ml] 100 ± 46 90 ± 30 NS Plasma vWF:CBA 50–400[iu/ml] 101 ± 38 94 ± 37 NS Plasma Homocystine 5–15 [mmol/L] 9 ± 2 9 ± 2 NS Conclusion: The elevated hemostatic parameters are likely to represent an acute phase phenomena as shown by their normalization in the repeat testing after 3 months. Thrombophillic factors do not seem to explain the thrombotic tendency in BD. Further work is needed to elucidate the basis for the thrombotic complication of BD. It is hypothesized that active BD causes endothelial damage and dysfunction leading to the increased propensity for thrombosis.

scholarly journals Pulmonary Embolism in a Sarcoidosis Patient Double Heterozygous for Methylenetetrahydrofolate Reductase Gene Polymorphisms and Factor V Leiden and Homozygous for the D-Allele of Angiotensin Converting Enzyme Gene

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Nadim El-Majzoub ◽  
Rami Mahfouz ◽  
Nadim Kanj
Keyword(s):  
Pulmonary Embolism ◽  
Gene Polymorphisms ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Factor V ◽  
Angiotensin Converting Enzyme Gene ◽  
Converting Enzyme ◽  
Enzyme Gene ◽  
Reductase Gene ◽  
Methylenetetrahydrofolate Reductase Gene

Sarcoidosis is a multisystem granulomatous disease of unknown etiology and pathogenesis. It presents in patients younger than 40 years of age. The lungs are the most commonly affected organ. Till the present day, there is no single specific test that will accurately diagnose sarcoidosis; as a result, the diagnosis of sarcoidosis relies on a combination of clinical, radiologic, and histologic findings. Patients with sarcoidosis have been found to have an increased risk of pulmonary embolism compared to the normal population. MTHFR and factor V Leiden mutations have been reported to increase the risk of thrombosis in patients. We hereby present a case of a middle aged man with sarcoidosis who developed a right main pulmonary embolism and was found to be double heterozygous for methylenetetrahydrofolate reductase gene polymorphisms and factor V Leiden and homozygous for the D-allele of the angiotensin converting enzyme gene.

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