A novel polymorphism in the PAI-1 gene promoter enhances gene expression. A novel pro-thrombotic risk factor?

Liguori, Renato; Quaranta, S; Fiore, Rosanna Di; Elce, Ausilia; Castaldo, Giuseppe; Amato, Felice

doi:10.1016/j.thromres.2014.09.021

Cited by 14 publications

(16 citation statements)

References 20 publications

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“…First, serum PAI-1 concentrations were not examined in our study population. Previous studies have evaluated the contribution of each PAI-1 polymorphism to serum PAI-1 expression [35,36,37]. Second, functional studies for PAI-1 SNP were not performed to elucidate OVCF-related pathogenesis.…”

Section: Discussionmentioning

confidence: 99%

Association of Plasminogen Activator Inhibitor-1 (PAI-1) Gene Polymorphisms with Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women

Kim

Han

Lee

et al. 2016

IJMS

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Osteoporosis and osteoporotic fractures are strongly associated with mortality and morbidity, both in developing and developed countries. Menopause accelerates bone loss due to estrogen deficiency and age-related linear bone loss. We investigated plasminogen activator inhibitor-1 (PAI-1) gene polymorphisms in postmenopausal women with osteoporotic vertebral compression fractures (OVCFs). In this case-control study, 355 postmenopausal women were genotyped for the presence of PAI-1 gene polymorphisms −844A > G, −675 4G > 5G, 43G > A, 9785A > G, and 11053T > G. Genetic polymorphisms of PAI-1 were analyzed by the polymerization chain reaction restriction fragment length polymorphism assay, and their association with disease status and folate and homocysteine levels was determined in 158 OVCF patients and 197 control subjects. The PAI-1 −675 5G5G (adjusted odds ratio (AOR), 3.302; p = 0.017) and 43GA + AA (AOR, 2.087; p = 0.042) genotype frequencies showed significant association with the increased prevalence of OVCFs in postmenopausal women. In addition, we performed gene–environment interaction studies and demonstrated an association between PAI-1 gene polymorphisms and OVCF prevalence. Our novel finding is the identification of several PAI-1 genetic variants that increase susceptibility to OVCF. Our findings suggest that polymorphisms in PAI-1 may contribute to OVCF, and that they can be developed as biomarkers for evaluating OVCF risk.

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Section: Discussionmentioning

confidence: 99%

Association of Plasminogen Activator Inhibitor-1 (PAI-1) Gene Polymorphisms with Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women

Kim

Han

Lee

et al. 2016

IJMS

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“…All the variants were analyzed using a LightCycler 1.2 Instrument, (Roche Diagnostics, Basel, Switzerland), which uses PCR for the amplification of the genomic region of interest and fluorogenic target-specific hybridization for the detection and genotyping of the amplified DNA, according to the manufacturer's procedures (Roche Diagnostics). Finally, the results were analyzed using LightCycler Software 3.5 (Roche Diagnostics, Basel, Switzerland) [18].…”

Section: Dna Extractionmentioning

confidence: 99%

Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization

Cernera

Minno

Amato

et al. 2020

JCM

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Background: Requests to test for thrombophilia in the clinical context are often not evidence-based. Aim: To define the role of a series of prothrombotic gene variants in a large population of patients with different venous thromboembolic diseases. Methods: We studied Factor V Leiden (FVL), FVR2, FII G20210A, Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, beta-fibrinogen -455 G>A, FXIII V34L, and HPA-1 L33P variants and PAI-1 4G/5G alleles in 343 male and female patients with deep vein thrombosis (DVT), 164 with pulmonary embolism (PE), 126 with superficial vein thrombosis (SVT), 118 with portal vein thrombosis (PVT), 75 with cerebral vein thrombosis (CVT) and 119 with retinal vein thrombosis (RVT), and compared them with the corresponding variants and alleles in 430 subjects from the general population. Results: About 40% of patients with DVT, PE and SVT had at least one prothrombotic gene variant, such as FVL, FVR2 and FII G20210A, and a statistically significant association with the event was found in males with a history of PE. In patients with a history of PVT or CVT, the FII G20210A variant was more frequent, particularly in females. In contrast, a poor association was found between RVT and prothrombotic risk factors, confirming that local vascular factors have a key role in this thrombotic event. Conclusions: Only FVL, FVR2 and FII G20210A are related to vein thrombotic disease. Other gene variants, often requested for testing in the clinical context, do not differ significantly between cases and controls. Evidence of a sex difference for some variants, once confirmed in larger populations, may help to promote sex-specific prevention of such diseases.

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“…Одним з найбільш поширених є діалельний поліморфізм 4G/5G у промоторі гена РАІ-1 [10,11]. Мутантний алель 5G виник як наслідок інсерції додаткового залишку гуаніну (G) у позиції-675 промотора гена РАІ-1, що спричинило зниження його активності.…”

Section: вступunclassified

“…Водночас дані щодо можливих наслідків цієї мутації є дещо суперечливими. Приміром, поліморфізм 4G/5G у промоторі гена РАІ-1 може бути як чинником ризику рецидивних виразкових кровотеч [14], так і чинником, що збільшує ризик тромботичних ускладнень [10,11]. Залишається невідомою також можлива роль поліморфізму 4G/5G в розвитку інших ускладнень виразкової хвороби.…”

Section: вступunclassified

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Поліморфізм 5g4 Гена Інгібітору Активатора Плазміногена 1 (Pai-1) У Хворих На Гострі Ускладнення Виразкової Хвороби

Dutka¹,

Панчук²,

Волков³

et al. 2020

Clin. and experim. pathol.

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A novel polymorphism in the PAI-1 gene promoter enhances gene expression. A novel pro-thrombotic risk factor?

Cited by 14 publications

References 20 publications

Association of Plasminogen Activator Inhibitor-1 (PAI-1) Gene Polymorphisms with Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women

Association of Plasminogen Activator Inhibitor-1 (PAI-1) Gene Polymorphisms with Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women

Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization

Поліморфізм 5g4 Гена Інгібітору Активатора Плазміногена 1 (Pai-1) У Хворих На Гострі Ускладнення Виразкової Хвороби

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