scholarly journals Frequency of trombophilia associated genes. Population – based study.

2019 ◽  
Author(s):  
Natalia Wawrusiewicz-Kurylonek ◽  
Adam Jacek Kretowski ◽  
Renata Posmyk
Keyword(s):  
Coagulation Factor ◽  
Population Based ◽  
Taqman Assay ◽  
Factor V ◽  
Eastern European ◽  
Population Based Study ◽  
Inherited Thrombophilia ◽  
Pathogenic Variants ◽  
Coagulation Factor V ◽  
Eastern European Countries

Abstract Background: Thrombophilia is a hypercoagulable state that may have a genetic basis (inherited) or can be acquired. It is a multifactorial condition and only the mutual interactions between the environment and genes may lead to the development of clinical manifestation. This state is the main factor that promotes venous (rarely arterial) thromboembolism (VTE). The inherited thrombophilia is mainly associated with two pathogenic variants in the V coagulation factor (FV) and the prothrombin (FII) genes. The aim of our study was to evaluate the frequency of two pathogenic variants in FII and FV genes as an inherited thrombophilia factor in a representative group of Polish population in comparison with other described populations. Methods: All studied groups consisted of 1414 unrelated patients at the age between 18 and 70. The individuals from the research group came from the Podlasie region of Poland. Genotyping of FII, FV and MTHFR variants was performed using the 7900HT Fast Real-Time PCR System and were genotyped by TaqMan assay. Results: The pathogenic allele frequency for A allele was 0.03 (3%) and 0.07 (7%) for FII and FV genes, respectively. The GA/AA genotypes (c.*97G>A variant) were observed only in 33 (5.03%) individuals in the studied group. Additionally, the frequency of GA/AA genotypes was over 17.4% in the coagulation factor V. Co-instability of heterozygous genotype GA of variants FII and FV genes was observed only in 4 subjects. Conclusions: Our results is similar to the frequency of the both FII and FV variants in the South–Eastern European countries population, whose value is about 5% and 2.5% respectively.

scholarly journals Frequency of thrombophilia associated genes. Population – based study.

2020 ◽  
Author(s):  
Natalia Wawrusiewicz-Kurylonek ◽  
Adam Jacek Kretowski ◽  
Renata Posmyk
Keyword(s):  
Coagulation Factor ◽  
Population Based ◽  
Taqman Assay ◽  
Factor V ◽  
Population Based Study ◽  
Inherited Thrombophilia ◽  
Pathogenic Variants ◽  
South Central ◽  
Coagulation Factor V ◽  
Main Factor

Abstract Background: Thrombophilia is a hypercoagulable state that may have a genetic basis (inherited) or can be acquired. It is a multifactorial condition and only the mutual interactions between the environment and genes may lead to the development of clinical manifestation. This state is the main factor promoting venous (rarely arterial) thromboembolism (VTE). Inherited thrombophilia is mainly associated with two pathogenic variants in the V coagulation factor ( FV ) and the prothrombin ( FII ) genes. The aim of our study was to evaluate the frequency of two pathogenic variants in FII and FV genes as inherited thrombophilia factors in a group within the Polish population in comparison with other described populations. Methods: All studied groups consisted of 633 unrelated patients aged between 18 and 70. Individuals in the research group come from the Podlasie region of Poland. Genotyping of FII and FV variants was performed using the 7900HT Fast Real-Time PCR System and were genotyped by TaqMan assay. Results: The pathogenic allele frequency for A allele was 0.03 (3%) and 0.07 (7%) for FII and FV genes, respectively. The GA/AA genotypes (c.*97G>A variant) were observed in only 33 (5.03%) individuals in the studied group. Additionally, the frequency of GA/AA genotypes was over 17.4% in the coagulation factor V. Co-incidence of heterozygous genotype GA of variants FII and FV genes was observed in only 4 subjects. Conclusions: The FII gene variant shown in our study is less frequent than in other European countries (about 6%). In contrast, the A allele of the FV gene occurs with a frequency similar to that of Northern, Central and South Central Europe (about 5%).

scholarly journals Frequency of thrombophilia associated genes variants: population-based study

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Natalia Wawrusiewicz-Kurylonek ◽  
Adam Jacek Krętowski ◽  
Renata Posmyk
Keyword(s):  
Coagulation Factor ◽  
Population Based ◽  
Taqman Assay ◽  
Factor V ◽  
Population Based Study ◽  
Inherited Thrombophilia ◽  
Pathogenic Variants ◽  
South Central ◽  
Coagulation Factor V ◽  
Main Factor

Abstract Background Thrombophilia is a hypercoagulable state that may have a genetic basis (inherited) or can be acquired. It is a multifactorial condition and only the mutual interactions between the environment and genes may lead to the development of clinical manifestation. This state is the main factor promoting venous (rarely arterial) thromboembolism (VTE). Inherited thrombophilia is mainly associated with two pathogenic variants in the V coagulation factor (FV) and the prothrombin (FII) genes. The aim of our study was to evaluate the frequency of two pathogenic variants in FII and FV genes as inherited thrombophilia factors in a group within the Polish population in comparison with other described populations. Methods All studied groups consisted of 633 unrelated patients aged between 18 and 70. Individuals in the research group come from the Podlasie region of Poland. Genotyping of FII and FV variants was performed using the 7900HT Fast Real-Time PCR System and were genotyped by TaqMan assay. Results The pathogenic allele frequency for A allele was 0.03 (3%) and 0.07 (7%) for FII and FV genes, respectively. The GA/AA genotypes (c.*97G > A variant) were observed in only 33 (5.03%) individuals in the studied group. Additionally, the frequency of GA/AA genotypes was over 17.4% in the coagulation factor V. Co-incidence of heterozygous genotype GA of variants FII and FV genes was observed in only 4 subjects. Conclusion The FII gene variant shown in our study is less frequent than in other European countries (about 6%). In contrast, the A allele of the FV gene occurs with a frequency similar to that of Northern, Central and South Central Europe (about 5%).

scholarly journals Frequency of thrombophilia associated genes. Population – based study.

2020 ◽  
Author(s):  
Natalia Wawrusiewicz-Kurylonek ◽  
Adam Jacek Kretowski ◽  
Renata Posmyk
Keyword(s):  
Coagulation Factor ◽  
Population Based ◽  
Taqman Assay ◽  
Factor V ◽  
Population Based Study ◽  
Inherited Thrombophilia ◽  
Pathogenic Variants ◽  
South Central ◽  
Coagulation Factor V ◽  
Main Factor

Abstract Background: Thrombophilia is a hypercoagulable state that may have a genetic basis (inherited) or can be acquired. It is a multifactorial condition and only the mutual interactions between the environment and genes may lead to the development of clinical manifestation. This state is the main factor promoting venous (rarely arterial) thromboembolism (VTE). Inherited thrombophilia is mainly associated with two pathogenic variants in the V coagulation factor (FV) and the prothrombin (FII) genes. The aim of our study was to evaluate the frequency of two pathogenic variants in FII and FV genes as inherited thrombophilia factors in a group within the Polish population in comparison with other described populations. Methods: All studied groups consisted of 633 unrelated patients aged between 18 and 70. Individuals in the research group come from the Podlasie region of Poland. Genotyping of FII and FV variants was performed using the 7900HT Fast Real-Time PCR System and were genotyped by TaqMan assay. Results: The pathogenic allele frequency for A allele was 0.03 (3%) and 0.07 (7%) for FII and FV genes, respectively. The GA/AA genotypes (c.*97G>A variant) were observed in only 33 (5.03%) individuals in the studied group. Additionally, the frequency of GA/AA genotypes was over 17.4% in the coagulation factor V. Co-incidence of heterozygous genotype GA of variants FII and FV genes was observed in only 4 subjects. Conclusion: The FII gene variant shown in our study is less frequent than in other European countries (about 6%). In contrast, the A allele of the FV gene occurs with a frequency similar to that of Northern, Central and South Central Europe (about 5%).

scholarly journals Prevalence of Variants in Candidate Genes for Type 2 Diabetes Mellitus in The Netherlands: The Rotterdam Study and the Hoorn Study1

1999 ◽  
Vol 84 (3) ◽  
pp. 1002-1006
Author(s):  
Leen M. 't Hart ◽  
Ronald P. Stolk ◽  
Jacqueline M. Dekker ◽  
Giel Nijpels ◽  
Diederick E. Grobbee ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Insulin Receptor ◽  
Coagulation Factor ◽  
Population Based ◽  
Factor V ◽  
Rotterdam Study ◽  
Coagulation Factor V

We have analyzed the association of variants in the genes for amylin, insulin receptor, insulin receptor substrate-1 (IRS-1), and coagulation factor V with type 2 diabetes mellitus. Random samples of subjects with type 2 diabetes and controls were taken from two population-based studies, the Hoorn and Rotterdam studies, to reduce the risk of artifactual associations. No association was found for variants in the genes for amylin, IRS-1, and coagulation factor V, nor was there any evidence for epi-static interactions between these gene variants. A significant difference in the frequency of the Arg972 allele of the IRS-1 gene was observed between control subjects from Hoorn and Rotterdam (9.4% vs. 18.6%; P < 0.05). The insulin receptor Met985 variant was found at frequencies of 4.4% and 1.8%, respectively, in type 2 diabetic (n = 433) and normoglycemic patients (n = 799; P < 0.02). Inclusion of data from two other studies yielded a summarized odds ratio of 1.87 (95% confidence interval, 1.06–3.29; P = 0.03). We conclude that the association between the Met985 variant in the insulin receptor gene and type 2 diabetes, which we previously reported in the Rotterdam study, is supported by the joint analysis with a second population-based study and other studies. The large regional differences in allele frequency of the Arg972 allele of IRS-1 gene makes genetic association studies of this gene less reliable.

scholarly journals Trends of multimorbidity in 15 European countries: a population-based study in community-dwelling adults aged 50 and over

2020 ◽  
Author(s):  
Dyego L. B. Souza ◽  
Albert Oliveras-Fabregas ◽  
Eduard Minobes-Molina ◽  
Marianna de Camargo Cancela ◽  
Paola Galbany-Estragués ◽  
...  
Keyword(s):  
Age Groups ◽  
Population Based ◽  
Community Dwelling ◽  
European Countries ◽  
Eastern European ◽  
Population Based Study ◽  
Policy Makers ◽  
Large Variability ◽  
Eastern European Countries ◽  
Series Study

Abstract Background: The objective of this work was to analyse the prevalence trends of multimorbidity among European community-dwelling adults.Methods: A temporal series study based on waves 1, 2, 4, 5, 6 and 7 of the Survey of Health, Ageing and Retirement in Europe (SHARE) was conducted, and community-dwelling participants aged 50+ (n=274,614) from 15 European countries were selected for the period 2004-2017. Prevalence, adjusted by age, Average Annual Percentage Change (APC) and 95% confidence interval (95% CI) were all calculated. Trend analyses were realised by period, age groups and groups of diseases.Results: The results showed a large variability in the prevalence of multimorbidity in adults aged 50 and over among European countries. Increase in the prevalence of multimorbidity in the countries of central Europe (Austria, Belgium, Czech Republic, France, Germany and Switzerland) and Spain in both sexes, and in the Netherlands among men. Stability was observed in northern and eastern European countries. Musculoskeletal and neurodegenerative groups showed more significant changes in the trend analyses.Conclusions: This information can be useful for policy makers when planning health promotion and prevention policies addressing modifiable risk factors in health.

Coagulation Factor V Leiden Mutation Was Detected in the Patients with Activated Protein C Resistance in Thailand

1998 ◽  
Vol 80 (08) ◽  
pp. 344-345 ◽  
Author(s):  
Pasra Arnutti ◽  
Motofumi Hiyoshi ◽  
Wichai Prayoonwiwat ◽  
Oytip Nathalang ◽  
Chamaiporn Suwanasophon ◽  
...  
Keyword(s):  
Protein C ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Coagulation Factor ◽  
Factor V ◽  
Activated Protein C Resistance ◽  
Factor V Leiden Mutation ◽  
Coagulation Factor V

Phenotyping and Genotyping of Coagulation Factor V Leiden

1996 ◽  
Vol 75 (02) ◽  
pp. 267-269 ◽  
Author(s):  
H Engel ◽  
L Zwang ◽  
H H D M van Vliet ◽  
J J Michiles ◽  
J Stibbe ◽  
...  
Keyword(s):  
Factor V Leiden ◽  
Coagulation Factor ◽  
Diagnostic Value ◽  
Resistance Test ◽  
Amplification Refractory Mutation System ◽  
Factor V ◽  
Chain Reactions ◽  
Apc Resistance ◽  
Specificity And Sensitivity ◽  
Coagulation Factor V

SummaryThe currently used activated Protein C resistance test demonstrated to be of limited diagnostic value for the detection of the mutant Factor V Leiden. Moreover, this assay is not useful for patients under anticoagulant therapy. A modification of the APC resistance test, applying Factor V deficient plasma is described which demonstrates a specificity and sensitivity of 1.0. The superiority of the modified APC resistance test over the existing APC resistance test was verified by genotyping.For that purpose, the Amplification Refractory Mutation System (ARMS) was applied to the detection of the G to A mutation at position 1691 in the gene encoding coagulation Factor V. The mutation at that position could be easily detected by using each of two allele-specific oligonucleotide primers concomitantly with one common primer in two separate polymerase chain reactions, thereby amplifying a fragment of 186 base-pairs of the Factor V gene.

Coagulation Factor V: An Old Star Shines Again

1997 ◽  
Vol 78 (01) ◽  
pp. 427-433 ◽  
Author(s):  
Jan Rosing ◽  
Guido Tans
Keyword(s):  
Coagulation Factor ◽  
Factor V ◽  
Coagulation Factor V
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