Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population

Abstract

The development of venous thromboembolism is influenced by a variety of genetic and environmental risk factors. A few studies have ascertained whether thrombophilic defects are risk factors for venous thromboembolism in Latin American populations with a variable degree of admixture, such as the Colombian population. To address this issue, we conducted a case-control study involving 100 consecutive patients with deep vein thrombosis and 114 healthy controls from the Hospital Universitario San Vicente de Paú l, Medellín, Colombia. Activated protein C resistance (APC resistance) was detected in 25/99 patients vs. 6/114 controls (OR 5 6.08, 95% CI 5 2.23-17.47). Ten of 100 patients carried the factor V Leiden mutation vs. 1/114 controls (OR 5 12.56, 95% CI 5 1.61-267). APC resistance was associated with the factor V Leiden mutation in only 10/25 patients. The prothrombin G20210A mutation was found in 4/100 patients, but none of the controls (P < 0.05). There was no significant difference in the proportion of homozygous carriers of methylenetetrahydrofolate reductase C677T variant among patients and controls. In conclusion, in our studied population, factor V Leiden, APC resistance, and prothrombin G20210A were associated with an increased risk of deep vein thrombosis. However, the frequencies of these thrombophilic defects and of APC resistance associated with factor V Leiden was lower than the corresponding frequencies previously reported for Caucasian populations. Further study is required to assess the influence of ethnicity on thrombophilia. Am. J. Hematol. 81:933-937, 2006. V V C 2006 Wiley-Liss, Inc.

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

“…Similar to the frequency findings of this study, in Colombia, the FII G20212A mutation was not detected at all (0% frequency) and only 0.43% of the subjects in that study had the FV G1691A mutation (Torres et al, 2006). Likewise, in a study conducted in Chile (N = 1200), only 1% of the population had any variant alleles (Palomo et al, 2009).…”

“…The relationship between MTHFR C677T and the development of VTE remains unclear because, despite the failure of several studies to show an association (NizankowskaMogilnicka et al, 2003;Almawi et al, 2005;Torres et al, 2006;Alfirevic et al, 2010), in a meta-analysis of 8364 subjects, Den Heijer et al (2005) concluded that the presence of the TT genotype poses a 20-fold greater risk for VTE than the CC genotype. One consequence of the MTHFR C677T polymorphism is a resultant increased plasma level of homocysteine, a condition considered to be an independent risk factor for VTE.…”

“…Carriers of this mutation have a 4-to 12-fold greater risk of developing VTE (Torres et al, 2006;Bezemer et al, 2008;Alfirevic et al, 2010). Furthermore, the risk of VTE recurrence in heterozygous persons is approximately 40% higher than it is in persons without the mutation (Marchiori et al, 2007).…”

“…The most common genetic risk factors for the development of VTE include the transitions G1691A in coagulation factor V (FV) and G20210A in coagulation factor II (FII) (also known as prothrombin gene) (Rosendorff and Dorfman, 2007). The C677T polymorphism in the gene encoding the enzyme methylenetetrahydrofolate reductase (MTHFR) may contribute to the etiology of VTE; study results have been inconsistent (Nizankowska-Mogilnicka et al, 2003;Almawi et al, 2005;Torres et al, 2006;Alfirevic et al, 2010;He et al, 2010).…”

Low prevalence of Factor V Leiden and the prothrombin G20210A mutation in a healthy population from the central-south region of Chile

“…25 The major prevalence of FV Leiden and PT G20210A in the Caucasian population supports the theory that both mutations emerged 21.000 to 34.000 years ago, only in the Caucasian population, after the separation of Mongols and Caucasian. 6,8 The revision of 26 European and neighboring countries showed that the FV Leiden could have expanded from the region of Anatolia, Turkish peninsula, 3,26 to Europe and to other continents later.…”