Prevalence of Prothrombin G20210A, Factor V G1691A (Leiden), and Methylenetetrahydrofolate Reductase (MTHFR) C677T in Seven Different Populations Determined by Multiplex Allele-specific PCR

1999 ◽  
Vol 81 (05) ◽  
pp. 733-738 ◽  
Author(s):  
Robert Luhm ◽  
Steven Pearson ◽  
Debra Endean ◽  
Kenneth Friedman ◽  
Robert Montgomery ◽  
...  
Keyword(s):  
Odds Ratio ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr C677t ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Specific Pcr ◽  
Factor V G1691a ◽  
Allele Specific ◽  
Allele Specific Pcr ◽  
Prothrombin 20210A

SummaryIndividuals belonging to six racial groups (African American, Asian Indian, Caucasian, Hispanic, Korean, Native American), and a seventh group comprised of referred patients with thrombosis were genotyped for the prothrombin G20210A mutation, the factor V G1691A (Leiden) mutation, and the methylenetetrahydrofolate reductase (MTHFR) C677T mutation by multiplexed allele-specific PCR. The prothrombin 20210A and factor V 1691A allele frequencies in the thrombosis patients, 3.2% and 9.5%, were significantly higher than those in the random Caucasians, 1.3% and 1.8%, (p = 0.043 and p <0.001, respectively). The relative risk of venous thrombosis was determined to be 2.4-fold for carriers of the prothrombin 20210A allele (odds ratio = 2.54; 95% confidence interval = 0.94, 6.82) and 4.5-fold for carriers of the factor V 1691A allele (odds ratio = 5.06; 95% confidence interval = 2.25, 11.36). Among the seven populations, significant differences were observed in the MTHFR 677T allele distribution, however this mutation was not determined to be a risk factor for venous thrombosis in the patient group studied, either alone or in combination with the pro-thrombin 20210A and/or the factor V 1691A allele(s).

scholarly journals Significance of Factor V, Prothrombin, MTHFR, and PAI-1 Genotypes in Childhood Cerebral Thrombosis

2007 ◽  
Vol 13 (2) ◽  
pp. 154-160 ◽  
Author(s):  
Emel Ozyurek ◽  
Gunay Balta ◽  
Aydan Degerliyurt ◽  
Hülya Parlak ◽  
Sabiha Aysun ◽  
...  
Keyword(s):  
Odds Ratio ◽  
Mthfr C677t ◽  
Prothrombin G20210a ◽  
Control Group ◽  
Factor V ◽  
Cerebral Thrombosis ◽  
Turkish Children ◽  
Increased Risk ◽  
Factor V G1691a ◽  
Pai 1

The aim of this study was to evaluate the significance of factor V (FV) G1691A, prothrombin G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T, and plasminogen activator inhibitor-1 (PAI-1) 4G/5G genotypes in development of childhood cerebral thrombosis (CT). A total of 113 Turkish children with CT were studied and compared with the control group. The carrier frequency of the factor V G1691A mutation was found to be significantly higher in the patient group (17.7%) than controls (7.4%). The presence of this genotype was associated with a 2.7-fold increased risk of developing CT (95% confidence interval [CI], 1.0—7.0). The prevalence of prothrombin G20210A mutation in 110 patients (4.5%) was insignificantly higher than controls (2.3%) (odds ratio, 2.0; 95% CI, 0.4—10.7). A statistically significant increase in the frequency of homozygous MTHFR C677T genotype was observed in 62 patients (11.3%) compared to controls (4.3%), and this genotype was associated with 2.8-fold increased CT risk (95% CI, 1.0—8.0). The incidence of PAI-1 4G/4G genotype in 65 patients (21.5%) was slightly lower than that of controls (26.0%), but the differences did not reach statistical significance (odds ratio, 0.8; 95% CI, 0.4—1.5). The results of this study suggested that factor V G1691A and MTHFR C677T genotypes may be associated with an increased risk of developing CT in Turkish children.

Simple and Rapid Detection of Factor V Leiden by Allele-specific PCR Amplification

1996 ◽  
Vol 75 (05) ◽  
pp. 757-759 ◽  
Author(s):  
Rainer Blasczyk ◽  
Markus Ritter ◽  
Christian Thiede ◽  
Jenny Wehling ◽  
Günter Hintz ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Pcr Amplification ◽  
Factor V ◽  
Specific Pcr ◽  
Pcr Rflp ◽  
Allele Specific ◽  
Specific Amplification ◽  
Allele Specific Pcr

SummaryResistance to activated protein C is the most common hereditary cause for thrombosis and significantly linked to factor V Leiden. In this study, primers were designed to identify the factor V mutation by allele-specific PCR amplification. 126 patients with thromboembolic events were analysed using this technique, PCR-RFLP and direct sequencing. The concordance between these techniques was 100%. In 27 patients a heterozygous factor VGln506 mutation was detected, whereas one patient with recurrent thromboembolism was homozygous for the point mutation. Due to its time- and cost-saving features allele-specific amplification should be considered for screening of factor VGln506.

scholarly journals Association of Factor II G20210A, Factor V G1691A and methylenetetrahydrofolate reductase C677T gene polymorphism with different forms of myocardial infarction: ST segment elevation and non-ST segment elevation

2020 ◽  
Vol 77 (10) ◽  
pp. 1041-1047
Author(s):  
Milica Cucuz-Jokic ◽  
Vesna Ilic ◽  
Bojana Cikota-Aleksic ◽  
Slobodan Obradovic ◽  
Zvonko Magic
Keyword(s):  
Myocardial Infarction ◽  
Coronary Artery ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr C677t ◽  
Factor V ◽  
St Segment Elevation ◽  
St Segment ◽  
Factor Ii ◽  
Factor V G1691a ◽  
St Elevation

Background/Aim. Coagulation Factor II G20210A and Factor V G1691A variants are moderately associated with coronary artery disease. Polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene C677T is associated with myocardial infarction (MI) in some ethnical groups. At the present time there are rare studies which try to differentiate two forms of MI, ST-elevation MI (STEMI) and non ST-elevation MI (NSTEMI) according to the genetic background. The aim of the study was investigate the association of polymorphisms of Factor II G20210A, Factor V G1691A and MTHFR C677T with different forms of MI: STEMI and NSTEMI. Methods. The study included 82 patients, divided into two cohorts: patients with STEMI (49 patients) and NSTEMI (33 patients). Genetic factors that would be different in those two entities, included in response to plaque rupture and occlusion of coronary artery, were examined. The peripheral blood lymphocytes were used as DNA source. Genotypes were determined on the polymerase chain reaction (PCR) based methodology. Results. The frequency of MTHFR C677T CT genotype was higher in the patients with NSTEMI in comparison with the patients with STEMI [odds ratio (OR) 3.33; 95% confidence interval (CI) 1.22?9.15; p = 0.02]. Logistic regression analysis shows MTHFR CT genotype as an independent prognostic factor for development of NSTEMI (OR 3.15; 95% CI 1.20?8.29; p = 0.02). There were no differences between two patients groups in frequency of Factor II G20210A and Factor V G1691A gene polymorphism. Conclusion. MTHFR C677T CT genotype was significantly associated with the NSTEMI development examined patients.

scholarly journals Age-dependent Prevalence of Vascular Disease-associated Polymorphisms among 2689 Volunteer Blood Donors

2001 ◽  
Vol 47 (10) ◽  
pp. 1879-1884 ◽  
Author(s):  
Martin J Hessner ◽  
David M Dinauer ◽  
Robert Kwiatkowski ◽  
Bruce Neri ◽  
Thomas J Raife
Keyword(s):  
Vascular Disease ◽  
Allele Frequency ◽  
Blood Donors ◽  
Methylenetetrahydrofolate Reductase ◽  
Age Groups ◽  
Mthfr C677t ◽  
Healthy Population ◽  
Factor V ◽  
Factor V G1691a ◽  
Glycoprotein Iiia

Abstract Background: The development of vascular disease involves the interaction of genetic and environmental factors. Because vascular disease is a major contributor to mortality in Western societies, we hypothesized that deleterious polymorphisms associated with hemostasis decrease in frequency among a healthy population as a function of age. Methods: The frequencies of factor V G1691A Leiden (FVL), factor II (FII) G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T, glycoprotein Ia (GPIa) C807T, glycoprotein IIIa (PlA1/PlA2) T1565C, and angiotensin-converting enzyme (ACE) intron 16 insertion/deletion (I/D) alleles were determined among 2689 healthy Caucasian whole-blood donors. For analysis, participants were divided into three age groups: 17–39 years (n = 979; 505 males and 474 females), 40–59 years (n = 900; 526 males and 374 females), and 60–85 years (n = 810; 530 males and 280 females). Results: The PlA2 allele frequency decreased from 17.5% to 15.7% and 14.1% in the 17–39 years, 40–59 years, and 60–85 years age groups, respectively (n = 5094 alleles; P = 0.025). Among ACE DD males, the PlA2 allele frequency decreased from 20.8% to 16.1% and 9.1% in the same groups, respectively (n = 810 alleles; P = 0.001). No statistically significant decrease in genotype or allele frequency was observed among carriers of FVL, FII 20210A, MTHFR 677T, GPIa 807T, or ACE D. Conclusions: These data suggest that PlA2 carriers, especially those who are ACE DD, are statistically less prevalent among older healthy blood donors compared with their younger counterparts. These observations suggest an important, deleterious, time-dependent impact of the PlA2 allele, as well as the ACE DD/PlA2 allelic combination, on overall health and longevity.

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