scholarly journals Prothrombin G20210A Mutant Genotype Is a Risk Factor for Cerebrovascular Ischemic Disease in Young Patients

Blood ◽  
1998 ◽  
Vol 91 (10) ◽  
pp. 3562-3565 ◽  
Author(s):  
Valerio De Stefano ◽  
Patrizia Chiusolo ◽  
Katia Paciaroni ◽  
Ida Casorelli ◽  
Elena Rossi ◽  
...  
Keyword(s):  
Risk Factor ◽  
Ischemic Stroke ◽  
Methylenetetrahydrofolate Reductase ◽  
Young Patients ◽  
Prothrombin G20210a ◽  
Control Group ◽  
Mutant Genotype ◽  
G20210a Mutation ◽  
Increased Risk ◽  
Factor Ii

The factor II G20210A mutation is a recently identified congenital risk factor for venous thrombosis. Its role in artery disease is still undefined. We investigated 72 patients (35 male and 37 female) with documented ischemic stroke occurred before 50 years of age and without risk factors such as diabetes, hypertension, and hyperlipidemia; 198 thrombosis-free individuals were investigated as the control group. We found 7 heterozygotes (9.7%) and 2 homozygotes (2.7%) for the mutant factor II allele among the patients and 5 heterozygotes (2.5%) among the controls; the mutant factor II allele frequency in the patient group (7.6%, 95% confidence interval [CI], 3.3 to 11.9) was significantly higher than in the controls (1.2%; 95% CI, 0.1 to 2.3;P = .0001). The prevalence of other investigated mutant alleles (factor V G1691A, methylenetetrahydrofolate reductase C677T) did not significantly differ between the two groups. The odds ratio for ischemic stroke associated with the carriership of the mutant factor II allele (both heterozygous and homozygous genotypes) was 5.1 (95% CI, 1.6 to 16.3). Heterozygous genotype was associated with a 3.8-fold increased risk for cerebral ischemia (95% CI, 1.1 to 13.1); in particular, assuming an expected prevalence of homozygotes in the general population of 1.6 to 10,000 according to the Hardy-Weinberg equilibrium, the risk associated with the homozygous genotype was estimated exceedingly high, being increased 208-fold.

scholarly journals Prothrombin G20210A Mutant Genotype Is a Risk Factor for Cerebrovascular Ischemic Disease in Young Patients

Blood ◽  
1998 ◽  
Vol 91 (10) ◽  
pp. 3562-3565 ◽  
Author(s):  
Valerio De Stefano ◽  
Patrizia Chiusolo ◽  
Katia Paciaroni ◽  
Ida Casorelli ◽  
Elena Rossi ◽  
...  
Keyword(s):  
Risk Factor ◽  
Ischemic Stroke ◽  
Methylenetetrahydrofolate Reductase ◽  
Young Patients ◽  
Prothrombin G20210a ◽  
Control Group ◽  
Mutant Genotype ◽  
G20210a Mutation ◽  
Increased Risk ◽  
Factor Ii

Abstract The factor II G20210A mutation is a recently identified congenital risk factor for venous thrombosis. Its role in artery disease is still undefined. We investigated 72 patients (35 male and 37 female) with documented ischemic stroke occurred before 50 years of age and without risk factors such as diabetes, hypertension, and hyperlipidemia; 198 thrombosis-free individuals were investigated as the control group. We found 7 heterozygotes (9.7%) and 2 homozygotes (2.7%) for the mutant factor II allele among the patients and 5 heterozygotes (2.5%) among the controls; the mutant factor II allele frequency in the patient group (7.6%, 95% confidence interval [CI], 3.3 to 11.9) was significantly higher than in the controls (1.2%; 95% CI, 0.1 to 2.3;P = .0001). The prevalence of other investigated mutant alleles (factor V G1691A, methylenetetrahydrofolate reductase C677T) did not significantly differ between the two groups. The odds ratio for ischemic stroke associated with the carriership of the mutant factor II allele (both heterozygous and homozygous genotypes) was 5.1 (95% CI, 1.6 to 16.3). Heterozygous genotype was associated with a 3.8-fold increased risk for cerebral ischemia (95% CI, 1.1 to 13.1); in particular, assuming an expected prevalence of homozygotes in the general population of 1.6 to 10,000 according to the Hardy-Weinberg equilibrium, the risk associated with the homozygous genotype was estimated exceedingly high, being increased 208-fold.

scholarly journals Lipoprotein (a) Levels in Childhood Arterial Ischemic Stroke

2009 ◽  
Vol 16 (2) ◽  
pp. 214-217 ◽  
Author(s):  
Serap Teber ◽  
Gülhis Deda ◽  
Nejat Akar ◽  
Kazım Soylu
Keyword(s):  
Risk Factor ◽  
Ischemic Stroke ◽  
Young Patients ◽  
Control Group ◽  
Healthy Children ◽  
Case Control Studies ◽  
Arterial Ischemic Stroke ◽  
Lipoprotein A ◽  
Screening Programs ◽  
Stroke In Young Adults

Lipoprotein (a) is a cholesterol-rich plasma lipoprotein with a lipid composition similar to that of low-density lipoproteins (LDL). Many prospective and case-control studies identified elevated levels of lipoprotein (a) as a risk factor for premature myocardial infarction and stroke. Elevated lipoprotein (a) has been identified as a genetically determined risk factor for stroke in young adults, but only preliminary data are available on its role as a risk factor for ischemic stroke in infants and children. Fifty two children with arterial ischemic stroke and 78 age- and sex-matched healthy children were studied. Data of this study indicate that 26.9% of children with arterial ischemic stroke had high lipoprotein (a) levels in comparison with the age matched healthy control group. Measurement of lipoprotein (a) should be included in screening programs performed in young patients suffering not only from venous thromboembolism but also arterial ischemic stroke, in addition to other thrombophilic factors.

scholarly journals Common Variations in Prothrombotic Genes and Susceptibility to Ischemic Stroke in Young Patients: A Case-Control Study in Southeast Iran

Medicina ◽  
2019 ◽  
Vol 55 (2) ◽  
pp. 47
Author(s):  
Seyed Hashemi ◽  
Nourollah Ramroodi ◽  
Hamed Amiri Fard ◽  
Sahar Talebian ◽  
Maryam Haghighi Rohani ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Case Control Study ◽  
Young Patients ◽  
Mthfr C677t ◽  
Case Control ◽  
Prothrombin G20210a ◽  
Increased Risk ◽  
Objective Evidence ◽  
Control Study ◽  
Stroke In Young

Background and Objective: Evidence indicates that genetic factors may be involved in the risk of ischemic stroke (IS). The aim of this study was to assess the effect of genetic polymorphisms located in exons or untranslated regions of MTHFR as well as FV genes on ischemic stroke. Materials and Methods: In this case-control study, 106 patients with IS and 157 healthy volunteers (age <50 years) were genotyped for MTHFR C677T, A1298C, C2572A and C4869G, FVL, and prothrombin G20210A polymorphisms. Results: The MTHFR 677CT genotype was more frequent in patients and increased risk of IS with Odds Ratio = 1.9. The MTHFR A1298C and C2572A polymorphisms were not associated with IS in dominant and recessive models. Our findings showed a significant decrease in the MTHFR 4869CG genotype in IS patients, and this variant was associated with a decreased risk of IS in the dominant model. The CAAT haplotype was associated with increased risk, and the GAAC haplotype was associated with decreased risk of IS compared to other haplotypes. There was no relation between FVL G1691A polymorphism and IS risk. Conclusions: The present study showed that the MTHFR 677CT genotype was more frequent and the MTHFR 4869CG genotype was less frequent in young IS patients.

scholarly journals Gestational complications of the prothrombin G20210A mutation related to prothrombin activity

2020 ◽  
Vol 14 (2) ◽  
pp. 192-202
Author(s):  
M. G. Nikolaeva ◽  
N. N. Yasafova ◽  
A. P. Momot ◽  
M. S. Zainulina ◽  
K. A. Momot ◽  
...  
Keyword(s):  
Blood Plasma ◽  
Venous Blood ◽  
Threshold Value ◽  
Prothrombin G20210a ◽  
Control Group ◽  
Study Group ◽  
Fetal Growth Retardation ◽  
Prothrombin Activity ◽  
G20210a Mutation ◽  
Factor Ii

Aim: to study the association between prothrombin activity in the blood plasma and gestational complications in women with the prothrombin G20210A mutation.Materials and methods. A prospective clinical cohort study including 290 pregnant women aged 18 to 45 years was conducted from 2012 to 2018. Two cohorts were formed: a study group of 140 patients with the GA genotype and a control group of 150 women with the GG genotype. In the groups, the activity of prothrombin (Factor II) in the venous blood plasma was evaluated during pregnancy. The stages of cytotrophoblast invasion were taken into account when relating the prothrombin activity to gestational complications.Results. The median prothrombin activity in the control group ranged from 108 % during the preconception period to 144 % during pregnancy (95 % CI = 130–150). In the study group with the GA genotype, the activity was significantly higher at the same periods: from 149 to 181 % (95 % CI = 142–195; p < 0.0001). With the prothrombin activity from 148.5 to 180.6 %, the pregnancy in the study group progressed normally. Higher levels of prothrombin activity were associated with early and/or severe preeclampsia (PE), and fetal growth retardation (FGR).Conclusion. The obtained data on prothrombin activity in the blood plasma during pregnancy complications suggest that the manifestation of the GA genotype in the form of early and/or severe PE and FGR is associated with the level of plasma prothrombin activity. The threshold value of Factor II activity was calculated for patients with the G20210A mutation; based on this value it becomes possible to predict PE at the preconception stage (171.0 %; AUC – 0.86; p < 0.0001) and at a gestational age of 7–8 weeks (181.3 %; AUC – 0.84; p < 0.0001).

The VITA Project: Prothrombin G20210A Mutation and Venous Thromboembolism in the General Population

1999 ◽  
Vol 82 (11) ◽  
pp. 1395-1398 ◽  
Author(s):  
Alberto Tosetto ◽  
Edoardo Missiaglia ◽  
Maurizio Frezzato ◽  
Francesco Rodeghiero
Keyword(s):  
Risk Factor ◽  
Venous Thromboembolism ◽  
General Population ◽  
Odds Ratio ◽  
Genetic Variant ◽  
Population Based ◽  
Prothrombin G20210a ◽  
Cross Sectional ◽  
G20210a Mutation ◽  
Increased Risk

SummaryRecently a new identified genetic variant in the 3’-untranslated region of the prothrombin gene (G20210A allele) associated with increased plasma prothrombin levels has been linked to an increased risk of venous thromboembolism (VTE). Most of our knowledge on the G20210A allele as a risk factor for VTE derives from a population-based case-control study and from studies on selected series of VTE patients. To determine the importance of the G20210A allele as a causative risk factor for VTE in the general population, we analyzed the cross-sectional data of the Vicenza Thrombophilia and Atherosclerosis (VITA) Project. One hundred sixteen cases of VTE, ascertained in a random fashion within the general population aged 18-65, were age and sex-matched with 232 healthy subjects. Heterozygosity for the G20210A allele was present in 4.3% of VTE cases and in 3.4% of controls, indicating a marginal increase of VTE risk in carriers of the allele (odds ratio: 1.26; 95% CI 0.4-3.9). However, the VTE risk was substantially higher in subjects with idiopathic VTE before age 45 or with recurrent, idiopathic VTE (odds ratio: 2.8; 95% CI 0.6-13.8) or in subjects with a family history of VTE (odds ratio: 7.6; 95% CI 1.8-32.8). Accordingly, our results suggest that the G20210A allele associates with VTE only in selected cases, and that screening for this genetic variant is not warranted for all patients with VTE.

scholarly journals Type and Location of Venous Thromboembolism in Carriers of Factor V Leiden or Prothrombin G20210A Mutation Versus Patients With No Mutation

2008 ◽  
Vol 16 (1) ◽  
pp. 66-70 ◽  
Author(s):  
Mirjana Kovac ◽  
Gorana Mitic ◽  
Zeljko Mikovic ◽  
Nebojsa Antonijevic ◽  
Valentina Djordjevic ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Venous Thromboembolism ◽  
Clinical Manifestations ◽  
Factor V Leiden ◽  
Transverse Sinus ◽  
Prothrombin G20210a ◽  
Factor V ◽  
G20210a Mutation ◽  
Increased Risk

Factor V Leiden (FVLeiden) and prothrombin G20210A are the most common genetic causes of thrombophilia and established risk factors for different clinical manifestations of venous thromboembolism (VTE). This study investigated whether the clinical manifestation of VTE, the extension of deep vein thrombosis (DVT) and the presence of transient risk factors at the time of the first VTE, differed among patients with mutations (97 with FVLeiden; 33 with prothrombin G20210A) and in 109 patients without thrombophilia. Isolated pulmonary embolism (PE) was less prevalent in patients with FVLeiden (6%) and no thrombophilia (6%) than in those with prothrombin G20210A (15%). No difference was found in the incidence of distal DVT. Regarding the extension of proximal DVT, the lowest incidence for isolated popliteal vein and the highest for iliofemoral vein were observed in patients with prothrombin G20210A. No difference was observed between groups of patients with or without thrombophilia by unprovoked VTE. The pregnancy/puerperium was the most prevalent risk factor in carriers of prothrombin G20210A. Among FVLeiden carriers, the most prevalent risk factor was surgery, and in patients without thrombophilia, it was trauma ( P < .05). Thrombosis of the upper limb was more frequent in a group without thrombophilia than in patients with mutations ( P < .01). Transverse sinus venous thrombosis was present only in patients with prothrombin G20210A. Carriers of prothrombin G20210A have an increased risk of developing isolated PE and more severe clinical manifestations than those with FVLeiden or without thrombophilia.

Metabolic and Genetic Risk Factors for Migraine in Children

Cephalalgia ◽  
2006 ◽  
Vol 26 (6) ◽  
pp. 731-737 ◽  
Author(s):  
F Bottini ◽  
ME Celle ◽  
MG Calevo ◽  
S Amato ◽  
G Minniti ◽  
...  
Keyword(s):  
Genetic Risk ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Factor V ◽  
Mutant Genotype ◽  
Methionine Load ◽  
Increased Risk ◽  
Factor Ii ◽  
Stroke In The Young

Migraine can induce ischaemic stroke, and is considered an independent risk factor for stroke in the young. To date, the nature of the link between migraine and stroke is essentially unknown. Forty-five children were studied. Homocysteine levels (fasting and post methionine load), vitamin B12 and plasma folate levels, factor V Leiden, factor II G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations were examined. Compared with controls, patients with migraine had higher levels of post-methionine load homocysteine values (19.5 ± 4.9 vs. 16.9 ± 1.9; P = 0.025) and significantly lower folate levels (5.8 ± 2.6 vs. 7.5 ± 2.1; P = 0.002). We found a trend toward an increased risk of migraine in subjects carrying a homozygous mutant genotype for MTHFR C677T and MTHFR A1298C polymorphisms. Genetic prothrombotic conditions do not seem to be related to migraine in the young, whereas the biochemical differences between migrainous patients and controls are an appealing topic for further investigation.

The Prothrombin G20210A Mutation Is a Risk Factor for Sudden Hearing Loss in Young Patients

2001 ◽  
Vol 86 (10) ◽  
pp. 1118-1119 ◽  
Author(s):  
Jochen Patscheke ◽  
Joachim Arndt ◽  
Klaus Dietz ◽  
Hans Zenner ◽  
Karl Reuner
Keyword(s):  
Hearing Loss ◽  
Risk Factor ◽  
Young Patients ◽  
Sudden Hearing Loss ◽  
Prothrombin G20210a ◽  
G20210a Mutation

scholarly journals The study of plasma homocysteine level as a risk factor for ischemic strokes in young patients

2017 ◽  
Vol 4 (4) ◽  
pp. 1019
Author(s):  
Prashant T. Gajbhare ◽  
Nazir I. Juvale
Keyword(s):  
Risk Factor ◽  
Ischemic Stroke ◽  
Homocysteine Level ◽  
Tertiary Care ◽  
Young Patients ◽  
Adult Life ◽  
Control Group ◽  
P Value ◽  
Care Hospital ◽  
Serum Homocysteine

Background: According to the WHO, stroke is second leading cause of death for people above the age of 60 years & fifth leading cause in people aged 15 to 59 years old. Each year, nearly six million people worldwide die from stroke. One in six people worldwide will have a stroke in their lifetime. Approximately one-quarter of 45-year-old men will have a stroke before they reach the age of 85. Stroke is also important condition in young people and can occur at any age, including in utero, neonatal period (it is the major cause of cerebral palsy), childhood and young adult life. One-quarter of all strokes occur in people below the age of 65.Methods: This prospective observational case control study was carried on 30 young ischemic stroke patients with 30 control match persons over a period of 20 months, from December 2011 to August 2013 at Tertiary Care Hospital Grant Government Medical College and Sir JJ Group of Hospitals, Mumbai, India.Results: Total plasma fasting homocysteine level in case group was 30.10±14.8 µmol/L and control group was 13±5.3 µmol/L, (p=0.001). Elevated fasting homocysteine level was found in 76.66. 0% of ischemic stroke cases and in 10% of healthy controls (p=0.001). Serum homocysteine levels were higher in subjects having risk factors such as dyslipidemia (p value <0.001), active lifestyle (p value <0.05) and smoking (p value<0.05). Serum homocysteine did not show any significant relation with age, sex, diabetes mellitus, diet pattern and defective coagulation (p value >1).Conclusions: The present study revealed that hyperhomocysteinemia appears to be an important risk factor for young ischemic strokes. It is therefore important to use serum homocysteine level as an important tool to investigate all cases of young ischemic strokes and also in those who are at risk of developing it. Significant correlation has been found between homocysteine concentration and young ischemic strokes.

Combined Factor V Leiden (R506Q) and prothrombin G20210A genotyping in young patients presenting with deep venous thrombosis

2006 ◽  
Vol 21 (1) ◽  
pp. 24-27 ◽  
Author(s):  
A Mansilha ◽  
F Araújo ◽  
M Severo ◽  
S M Sampaio ◽  
T Toledo ◽  
...  
Keyword(s):  
Risk Factor ◽  
Young People ◽  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Young Patients ◽  
Factor V Leiden ◽  
First Episode ◽  
Control Group ◽  
Factor V ◽  
Factor V Leiden Mutation

Objective: To evaluate the association between the Factor V Leiden (FV R506Q) and prothrombin gene (FII G20210A) mutations and deep venous thrombosis (DVT) in young people. Methods: Blood samples were drawn from 199 subjects: 100 healthy controls and 99 unselected patients, with an objectively documented first episode of DVT under 40 years old. DNA analysis was performed using the polymerase chain reaction. Results: The mean age in the patient cohort was 27 years (range 16–40) and 68 (68.7%) were women. Patient prevalences were 20.6% and 10.1% for FV R506Q and FII G20210A, respectively. In the control group, carrier frequencies were 2% and 5%, respectively. We found an increased overall relative risk of DVT with statistical significance for FV R506Q carriers (OR: 12.8; 95% CI: 2.9–56.7; P < 0.001), but not for FII G20210A mutation (OR: 2.1; 95% CI: 0.7–6.5; P = 0.19). Conclusions: Our results suggest a possible increase in DVT risk for the young G20210A allele carriers, which can be more expressed in the presence of a circumstantial risk factor. There is extremely strong evidence that the Factor V Leiden mutation is an important risk factor in the development of a first episode of DVT in young people.

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