Distinct association of factor V-Leiden and prothrombin G20210A mutations with deep venous thrombosis in Tunisia and Lebanon

Bouaziz-Borgi, Lobna; Almawi, Wassim Y.; Mtiraoui, Nabil; Nsiri, Brahim; Keleshian, Sose H.; Kreidy, Raghid; Louzir, B.; Hézard, Nathalie; Mahjoub, Touhami

doi:10.1002/ajh.20582

Cited by 23 publications

(13 citation statements)

References 10 publications

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“…We note also that the prevalence of the FVL mutation in our population is different from other Tunisian studies in the centre of Tunisia [18][19][20]. Ajem et al reported a prevalence of 6% in a healthy population of 100 cases [19].…”

Section: Discussioncontrasting

confidence: 92%

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Prevalence of factor V Leiden in south Tunisian blood donors

Maalej

Hadjkacem

Amor

et al. 2011

J Thromb Thrombolysis

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Venous thrombosis (VT) is a common disease with multifactorial pathogenesis. Factor V Leiden mutation (G1691A) (FVL) is the most common risk factor in venous thrombosis. The prevalence of FVL varies according to geography and ethnicity. Hence, in several countries there is a difference in the frequency of this mutation between the southern, central and north. In Tunisia, no data is available about prevalence of FVL mutation by geographical origin. For this reason, we sought the prevalence of FVL mutation in blood donor of south Tunisia population. FVL has been detected by APCR-test and confirmed by PCR-RFLP and sequencing. Two hundred fifty blood donors, different in age and sex were included in this study to determine the prevalence of FVL in blood donors. FVL mutation was found in 13.6% of the studied population. Thirty-one were heterozygous and three persons were homozygous with a rate of 12.4 and 1.2%, respectively. In conclusion, FVL mutation is very common in south Tunisian population.

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Section: Discussioncontrasting

confidence: 92%

“…Ajem et al reported a prevalence of 6% in a healthy population of 100 cases [19]. Others found a frequency of 6.4% in 313 studied subjects [20] and 6.1% in 197 cases [18]. This could be attributed to differences in sample size and geographic origin of the studied subjects.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of factor V Leiden in south Tunisian blood donors

Maalej

Hadjkacem

Amor

et al. 2011

J Thromb Thrombolysis

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“…Factor V Leiden is not observed in Asian or African native populations [1][2][3][4][5][6], whereas it is present with high variability depending on the origin of the population in regions with historical mixing of different ethnic origin population such as in Middle Eastern [7][8][9]. In Europe, a high prevalence is observed with differences between European countries.…”

Section: Introductionmentioning

confidence: 96%

Prevalence of factor V Leiden and prothrombin G20210A mutation in a large French population selected for nonthrombotic history: geographical and age distribution

Mazoyer

Ripoll

Guéguen

et al. 2009

Blood Coagulation &Amp; Fibrinolysis

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Among inherited risk factors for venous thrombosis, the most common are the FV-G1691A and FII-G20210A polymorphisms. The FV-G1691A polymorphism is preferentially observed in Europe, with differences between European countries. The FII-G20210A polymorphism is observed all over the world. The study was designed to compare the prevalence of the FV-G1691A and FII-G20210A polymorphisms in a large French population of unrelated individuals with no thrombotic disease history and to determine the age and geographical distributions. Over a period of 18 months, 6154 individuals were included throughout France and FV-G1691A and FII-G20210A polymorphisms were determined. The FV-G1691A prevalence was 3.84% (95% confidence interval 3.35-4.33) and the FII-G20210A prevalence was 3.07% (95% CI 2.63-3.51). A north-east/south-west gradient was observed in the FV-G1691A geographical distribution. No difference was observed in the geographical distribution of FII-G20210A polymorphism nor in the age distribution of the two polymorphisms. The prevalence of the two polymorphisms was similar whatever the blood group (O or non-O). Plasma D-dimers were significantly higher in healthy individuals with FV-G1691A but not in individuals with FII-G20210A. Thirty percent of variation in plasma prothrombin level was explained by environmental factors (serum cholesterol, age, oral contraception, hormonal replacement therapy, body mass index, sex) and genetic factors (FII-G20210A). As expected, individuals with FII-G20210A displayed higher plasma prothrombin level compared with individuals with wild type. However, this was not associated with a modification of the fibrin clot elastic modulus. This study shows a differential distribution of the two polymorphisms among the French territory. These polymorphisms confer a very mild hypercoagulable state as shown by the limited increased in basal D-dimers in mutated FV-G1691A populations and only a trend that does not reach statistical significance for FII-G20210A population.

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“…Alone, this mutation results in a 3-to 7-fold greater risk of VTE development (Nizankowska-Mogilnicka et al, 2003;Bouaziz-Borgi et al, 2006). When associated with the FV G1691A allele, the risk and recurrence of thrombotic disease increases significantly (Ehrenforth et al, 2004;Marchiori et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

Prevalence of variants that confer risk for venous thromboembolism in an elderly population of northeastern Brazil

Ferreira-Fernandes

Costa²,

Fernandes³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. Venous thromboembolism (VTE) is an important cause of morbidity and mortality stemming from cardiovascular disease. It is a multifactorial disease caused by a combination of acquired risk factors, of which advanced age is the most significant, and genetic factors, including the variants FV G1691A, FII G20210A, and MTHFR C677T. We estimated the prevalence of these genomic variants in an elderly population of northeastern Brazil. The study included 188 elderly persons (65-93 years), of which 68 (36.2%) were men and 120 (63.8%) were women. Variants were detected by polymerase chain reaction-3699 FV G1691A, FII G20210A, and MTHFR C677T in the elderly ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 12 (3): 3698-3707 (2013) restriction fragment length polymorphism analysis, and subsequent electrophoresis on an 8% polyacrylamide gel stained with silver nitrate. The study population was in Hardy-Weinberg equilibrium for the 3 loci. Of the individuals analyzed, none carried variants of FV or FII (0%), and 24.7% had the MTHFR C677T polymorphism: 59 subjects (31.4%) were heterozygous (CT) and 17 subjects (9%) were homozygous (TT). Based on the analysis of these particular genes, we conclude that the study population does not present an increased risk for the development of VTE. Faced with a growing aging population worldwide, similar studies in other countries will help in the prevention of VTE in older individuals.

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Distinct association of factor V-Leiden and prothrombin G20210A mutations with deep venous thrombosis in Tunisia and Lebanon

Cited by 23 publications

References 10 publications

Prevalence of factor V Leiden in south Tunisian blood donors

Prevalence of factor V Leiden in south Tunisian blood donors

Prevalence of factor V Leiden and prothrombin G20210A mutation in a large French population selected for nonthrombotic history: geographical and age distribution

Prevalence of variants that confer risk for venous thromboembolism in an elderly population of northeastern Brazil

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