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Background Accumulating evidence suggests that inherited thrombophilia may be implicated in the occurrence of recurrent pregnancy loss (RPL) via adversely affecting the placental vascular function. We aimed to investigate the possible association of MTHFR (rs1801133 and rs1801131), FV rs6025, FII rs1799963 and PAI-1 rs1799889 polymorphisms with increased risk of RPL. Material and methods A total of 320 women with a history of at least two consecutive miscarriages and 100 healthy controls were included in the study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used for genotyping of the studied single nucleotide polymorphisms (SNPs). Using logistic regression analysis, odds ratio (OR) and 95% confidence interval (95% CI) were calculated to determine the association between the SNPs and RPL, under co-dominant, dominant and recessive inheritance models. Results The results showed that rs1801133 (OR: 2.158; 95% CI: 1.310-3.553; P = 0.002) was significantly associated with increased risk of RPL, under dominant inheritance model. We also found that rs1799889 was related to a high risk of RPL in co-dominant, dominant and recessive inheritance models. MTHFR rs1801133 T and PAI-1 rs1799889 4G alleles were found to be significantly more prevalent in RPL patients compared to healthy controls (P < 0.05). Conclusion These data provide strong evidence that rs1801133 and rs1799889 SNPs were significantly associated with increased risk of RPL, suggesting their potential role in RPL pathogenesis. [ABSTRACT FROM AUTHOR]

Thrombophilia is a condition of enhanced functionality of the haemostatic system with an increased tendency for thrombosis, and it can be a congenital, acquired, or complex defect. Pregnancy can be the cause of acquired transitory thrombophilia, which may lead to complications if inherited thrombophilia is also present. The aim of this study was to determine the genetic structure of the population based on the frequency of the gene variants factor V Leiden G1691A, factor II G20210A, methylenetetrahydrofolate reductase C677T, and plasminogen activator inhibitor-1 4G/5G, as well as to investigate the predictive value of these gene variants in repeated miscarriages. The study included 87 female patients from Central Serbia with an average age of 32.7±4.5 years with inherited thrombophilia and previous miscarriages, with or without intrauterine foetal death. The exclusion criteria included the existence of gynaecological and infectious aetiology and the deficit of factors important for the coagulation process. The resulting genotypes were in Hardy-Weinberg equilibrium. The frequency of genotypes with mutated alleles was significantly higher in this group of patients than in the control group for all variants except factor II G20210A. The most commonly mutated alleles were the plasminogen activator inhibitor-1 4G allele (0.61) and methylenetetrahydrofolate reductase T allele (0.47). Double mutation of plasminogen activator inhibitor-1 4G/5G and methylenetetrahydrofolate reductase C677T was dominant in patients with recurrent pregnancy loss (46.15%). The presence of a combination of genetic variants of the plasminogen activator inhibitor-1 4G/5G and methylenetetrahydrofolate reductase C677T is a significant predictor of spontaneous abortions in women with inherited thrombophilia in Central Serbia. [ABSTRACT FROM AUTHOR]

Genç İskemik Stroklu Hastalarda Protrombotik Gen Polimorfizmleri ve Strok Risk Faktörlerinin BelirlenmesiAmaç: Genç iskemik inmeli hastalarda MTHFR C677T, Protrombin G20210A ve Faktör V Leiden (G1691A) gen polimorfizmlerinin bir risk faktörü olup olmadığının araştırılmasıdır.Gereç ve yöntem: Çalışmaya, 50 yaş altında iskemik strok geçirmiş 142 hasta ve 101 kontrol grubu (sağlıklı poliklinik hastası) toplam 243 kişi dahil edildi. Hasta ve kontrol grubundan EDTA'lı tüplere periferik venöz kan örnekleri alındı ve genomik deoksiribonükleik asitler (DNA) elde edildi. Faktör V Leiden, FII G20210A ve MTHFR C677T polimorfizmleri standart Real Time - PCR protokolü ile genotiplemesi yapıldı. Hastaların yatışının 1. ve 3. günleri beyin görüntülemesi yapıldı. İstatistiksel olarak ki-kare, anova testi ve logistik regresyon analizi kullanıldı.Bulgular: Çalışma, 142'si (58,4%) arteryal iskemik strok hastalarından ve 101'i (41,6%) sağlıklı kontrol grubundan oluşmaktaydı. Arteryel iskemik strok hastalarda kontrol grubuna göre daha fazla MTHFR C677T mutasyonu vardı (p

Background: Deep vein thrombosis (DVT) represents a common disorder involving genetic and acquired risk factors. It has been proposed that acquired risk factors are more important with aging than genetic factors, indicating different prevalence of prothrombotic mutations throughout the lifespan. Objective: To determine the role of the most frequent prothrombotic genetic risk factors (Factor V [FV] Leiden and Factor II [FII] G20210A mutations) in first-time DVT etiology in patients of different ages. Method: This retrospective study included 701 patients living in Serbia with diagnosed DVT as a first-time thrombotic event. Results: Risk assessment for mutations as age-related markers showed no statistical difference (FV Leiden mutation--OR, 1.027; 95% confidence interval [CI], .87-1.22; P = .76 and FII G20210A mutation--OR, 0.940, 95% CI, .74-1.19; P = .61). Our results show similar mutation prevalence regardless of how old the patients were at the time of the first DVT occurrence. Conclusion: Our results indicate that these 2 mutations cannot be used as prognostic marker for time-to-event first DVT in the Serbian population; however, further studies are required. [ABSTRACT FROM AUTHOR]

Venous thromboembolism is a multifactorial disorder with two manifestations: deepvein thrombosis and pulmonary embolism. Pulmonary embolism is usually considered as the complication of deep-vein thrombosis, but there are reported cases of isolated pulmonary embolism. FV Leiden and FII G20210A mutations are most common genetic risk factors for the venous thromboembolism. Several studies reported "FV Leiden paradox": lower prevalence of FV Leiden mutation among patients with isolated pulmonary embolism than among those with deep-vein thrombosis. The aim of this study was to determine FV Leiden and FII G20210A mutations frequency in thrombophilic patients in Serbian population. We tested prevalence of these mutations carriers in 1427 individuals divided in three groups of patients (with deep-vein thrombosis, deep-vein thrombosis/ pulmonary embolism and isolated pulmonary embolism) and control group. All subjects were tested for these mutations using PCR-RFLP analysis. Detected frequency of FV Leiden heterozygous carriers in patients with isolated pulmonary embolism was 6.9% (for FII G20210A 11.6%), while in other two groups of patients with deep-vein thrombosis and deep vein thrombosis/pulmonary embolism, frequency was 18.6% (for FII G20210A mutation were 11.6% and 8.3%, respectively). Our results showed that FV Leiden mutation is less frequent in patients with isolated pulmonary embolism than in patients with deep-vein thrombosis or deep-vein thrombosis accompanied with pulmonary embolism, confirming "FV Leiden paradox". On the other hand, detected frequency of FII G20210A mutation carriers was similar in all three groups of patients. [ABSTRACT FROM AUTHOR]

Abstract: Introduction: Pre-eclampsia is an important cause of maternal morbidity and mortality. Its etiology is still unknown. Clinical symptoms correlate with activation of coagulation and inherited thrombophilia has been associated with pre-eclampsia. ABO blood group has been associated with thrombotic disorders and pre-eclampsia. We assessed ABO blood group, seven thrombophilia associated polymorphisms, and anti-beta2-glycoprotein I antibodies as risk factors for pre-eclampsia. Materials and methods: We performed a population-based nested case-control study of 100,000 consecutive pregnancies in Finland. Cases and controls were identified by combining national registers and medical records were reviewed. We studied 248 cases fulfilling strict criteria for pre-eclampsia and 679 controls. Severe pre-eclampsia, early pre-eclampsia, and pre-eclampsia with intra-uterine growth restriction (IUGR) were analyzed separately. Results: Blood group AB increased the risk for pre-eclampsia as a whole (OR 2.1, 95% CI 1.3-3.5), and in the three subgroups (OR 2.3, 3.8, 3.4; 95% CI 1.3-3.9, 2.0-7.1, 1.6-7.1). FV Leiden increased the risk as a whole (OR 1.7, 95% CI 0.8-3.9), and in the three subgroups, although not statistically significantly. Anti-beta2-glycoprotein I antibodies were not associated with pre-eclampsia. High body mass index, diabetes, first pregnancy, and twin pregnancy increased the risk from 1.5-fold to 8.2-fold. Conclusions: Our results confirm and extend the prior observation of blood group AB being a risk factor for pre-eclampsia. ABO blood group is known from all pregnant women. The value of blood group as risk factor for pre-eclampsia should be further assessed in prospective studies. In this study, FV Leiden was not statistically significant risk factor. [Copyright &y& Elsevier]

Factor V Leiden (FV-Leiden) and prothrombin gene mutations (FII G20210A) are well-established independent risk factors for thrombosis. In the recent years, many studies have suggested that these mutations are associated with an increased risk of recurrent pregnancy loss (RPL). We aimed to investigate the prevalence of these molecular defects in subjects with a history of early RPL. One hundred and fourteen women with three or more consecutive unexplained first-trimester miscarriages were compared to 185 parous women with uncomplicated pregnancies from the same ethnic origin. The presence of FV-Leiden and FII G20210A mutations was assessed by polymerase chain reaction analysis. Overall, 11 out of the 114 women with early RPL (9.6%) had either FV-Leiden or FII G20210A mutation, as compared with 16 out of the 185 women with normal pregnancies (8.6%; p = 0.756). The prevalence of FV-Leiden mutation was 7.9% (9/114) in patient group, compared with 7% (13/185) in control group ( p = 0.780). One hundred and two patients were primary and 12 were secondary aborters. All FV-Leiden positive cases were primary aborters (8.8%; 9/102, p = 0.584). Concerning the FII G20210A, two out of 114 (1.7%) were first-trimester RPL (primary aborters) and three out of 185 (1.6%) controls were carriers of the FII G20210A mutation (1.7 vs 1.6%, p = 0.931). The results obtained from patients with first-trimester RPL and the control group have no statistical significant differences in the prevalence of FV-Leiden and FII G20210A mutations. These results suggest that mutations have no role in etiology of first-trimester recurrent abortions. [ABSTRACT FROM AUTHOR]

Abstract: Background: Myocardial infarction is a multifactorial disease. It is provoked by occlusions in the coronary arteries resulting from exposure to multiple risk factors. Objective: To study the risk of myocardial infarction associated with the gene polymorphisms of factor V Leiden and factor II (G20210A). Materials and methods: Cases consisted of 100 myocardial infarction patients who were hospitalized in the Principal Military Hospital of Tunis and 200 control subjects with no history of myocardial infarction. Results: The prevalence of the factor V Leiden was higher in myocardial infarction patients (9%) than in control subjects (6%) with an OR=1.55 (95% CI=0.58–4.12), whereas the prevalence of prothrombin G20210A mutation was 3% and 2.5% in the patient and control groups, respectively [OR=1.21 (95% CI=0.22–5.94)]. Conclusion: Our results indicate that neither factor V Leiden nor the prothrombin G20210A contributed to the risk factors for myocardial infarction. [Copyright &y& Elsevier]