title: 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 Paúl, Medellín, Colombia. Activated protein C resistance (APC resistance) was detected in 25/99 patients vs. 6/114 controls (OR = 6.08, 95% CI = 2.23-17.47). Ten of 100 patients carried the factor V Leiden mutation vs. 1/114 controls (OR = 12.56, 95% CI = 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.
authors.affiliation: Grupo de Investigación en Trombosis, Universidad de Antioquia-Hospital Universitario San Vicente de Paúl, Medellín, Colombia. jdtorres1@gmail.com
authors.forename: J D
authors.initials: JD
authors.lastname: Torres
authors.forename: H
authors.initials: H
authors.lastname: Cardona
authors.forename: L
authors.initials: L
authors.lastname: Alvarez
authors.forename: W
authors.initials: W
authors.lastname: Cardona-Maya
authors.forename: S A
authors.initials: SA
authors.lastname: Castañeda
authors.forename: F
authors.initials: F
authors.lastname: Quintero-Rivera
authors.forename: A
authors.initials: A
authors.lastname: Cadavid
authors.forename: G
authors.initials: G
authors.lastname: Bedoya
authors.forename: L
authors.initials: L
authors.lastname: Tobón
mesh_terms: D020016:Activated Protein C Resistance / Q000150:complications / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D002648:Child; D003105:Colombia; D004252:DNA Mutational Analysis / Q000379:methods; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population / Q000379:methods; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D020246:Venous Thrombosis / Q000209:etiology / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)