RESUMEN
AIMS: Hereditary as well as acquired thrombophilia is associated with a higher incidence of severe obstetric complications such as preeclampsia, spontaneous pregnancy loss, placental abruption, and fetal growth retardation. The aim of our study was to examine the association of selected thrombophilic polymorphisms (factor V Leiden, MTHFR C677T, and MTHFR A1298C) with pregnancy complications in the Slovak majority population and the Roma (Gypsy) ethnic population. The study included 354 women; 120 patients and 105 controls from the Slovak majority population, 50 patients and 79 controls from the Slovak Roma population. Genotyping was performed by the real-time polymerase chain reaction method using TaqMan(®) MGB probes. RESULTS: A statistically significant higher frequency of factor V Leiden (p=0.001, odds ratio [OR]=5.9) and MTHFR C677T polymorphism (p=0.011, OR=1.7) was observed in the Slovak majority patient group compared to the control group. The incidence of MTHFR A1298C polymorphism between patients and controls did not differ significantly. None of the three polymorphisms studied was in association with pregnancy complications in the group of Roma women. CONCLUSIONS: Our study has confirmed the variable distribution of selected thrombophilic polymorphisms in different ethnic groups as well as their various effects on the clinical phenotype.
Asunto(s)
Etnicidad/genética , Factor V/genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo Genético , Complicaciones del Embarazo/etnología , Romaní/genética , Trombofilia/etnología , Aborto Habitual/etnología , Aborto Habitual/genética , Resistencia a la Proteína C Activada/etnología , Resistencia a la Proteína C Activada/genética , Adolescente , Adulto , Femenino , Frecuencia de los Genes , Humanos , Incidencia , Persona de Mediana Edad , Mutación Puntual , Polimorfismo de Nucleótido Simple , Embarazo , Complicaciones del Embarazo/genética , Complicaciones Hematológicas del Embarazo/etnología , Complicaciones Hematológicas del Embarazo/genética , Eslovaquia/epidemiología , Trombofilia/genética , Adulto JovenRESUMEN
Factor V Leiden and prothrombin G20210A are the two most prevalent causes of inherited thrombophilia. The prevalence of these mutations varies widely in healthy Caucasian population. The aim of our study was to determine the frequency of factor V Leiden and prothrombin G20210A mutations in Slovak and Roma ethnic group from Eastern Slovakia. We analyzed 540 asymptomatic individuals (269 individuals of Slovak ethnicity and 271 individuals of Roma ethnicity) by real-time PCR method. The detected allele frequencies were 2.97 versus 6.64 % for factor V Leiden (p = 0.0049), and 0.74 versus 0.92 % for prothrombin mutation (p = 0.7463) in Slovak and Roma population, respectively. The Roma ethnic group had significantly higher prevalence of factor V Leiden mutation when compared to Slovak ethnic group. The allele frequency of factor V Leiden in ethnic Romanies from Eastern Slovakia was one of the highest in Europe. Our results confirm an uneven geographical and ethnic distribution of factor V Leiden.
Asunto(s)
Resistencia a la Proteína C Activada/genética , Factor V/genética , Mutación Missense/genética , Protrombina/genética , Romaní , Trombofilia/genética , Resistencia a la Proteína C Activada/etnología , Adulto , Alelos , Sustitución de Aminoácidos , Femenino , Frecuencia de los Genes , Humanos , Masculino , Eslovaquia/etnología , Trombofilia/etnologíaRESUMEN
INTRODUCTION: A number of prothrombotic and fibrinolytic disorders may lead to venous thrombosis. A 4G/5G polymorphism located in the promoter region of plasminogen activator inhibitor-1 (PAI-1) gene has been found to be commonly associated with the levels of PAI-1 and might be a risk factor for deep vein thrombosis (DVT). The aim of this study was to look for the potential association of this polymorphism with DVT in the Asian Indian population. MATERIAL AND METHODS: A total of 110 consecutive patients (M:F = 62:48) with idiopathic DVT and equal number of age- and sex-matched healthy controls were the study participants. All study participants were typed for the PAI-1 4G/ 5G polymorphism, factor V Leiden, factor V Hong Kong/Cambridge mutations, and HR2 haplotype. RESULT: The variant allele for the PAI-1 4G/5G polymorphism showed both genotypic (P = .0013, chi(2) = 10.303; odds ratio [OR] = 3.75) as well as allelic association (P = .0004, chi(2) = 12.273; OR = 1.99) with DVT. Factor V Leiden and factor V HR2 haplotype were observed in 10 (9.0%) and 13 (11.8%) patients, respectively. None of the study participants showed the factor V Hong Kong Cambridge mutations. CONCLUSION: Our study shows the association of 4G allele with DVT in Asian Indian population. The higher prevalence of 4G polymorphism in patients with DVT (compared with controls) seen in our study is in concordance with previous reports from the Caucasian population.
Asunto(s)
Etnicidad/genética , Inhibidor 1 de Activador Plasminogénico/genética , Polimorfismo Genético , Regiones Promotoras Genéticas/genética , Trombofilia/genética , Trombosis de la Vena/genética , Resistencia a la Proteína C Activada/etnología , Resistencia a la Proteína C Activada/genética , Adolescente , Adulto , Niño , Preescolar , Comorbilidad , Factor V/genética , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Haplotipos/genética , Humanos , India/epidemiología , Masculino , Síndrome Metabólico/etnología , Persona de Mediana Edad , Oportunidad Relativa , Riesgo , Trombofilia/etnología , Trombosis de la Vena/etnología , Adulto JovenRESUMEN
One of the most frequent hereditary causes of thrombophilia is, without a doubt, resistance to Activated Protein C (APC-resistance), which is a consequence of point mutation in gene coding for coagulation Factor V (Factor V Leiden) in 90-95% of cases. The aim of this paper was to determine prevalence of APC-resistance in a group of healthy blood donors. The size of the group is quite representative of Kosovo Albanians. A total of 944 blood donors were examined (537 males and 407 females), for whom APC-resistance was determined by functional methods of coagulation using the kit ACTICLOT(R) Protein C Resistance. Method is based on the test of APTT determined twice: first in the presence and second in the absence of activated Protein C (APC). The ratio of these two values constitutes is called Activated Protein C- Sensitivity Ratio (APC-SR). From 944 examined donors, pathologic values of APC-SR (1,3-1,9) were found in 32 persons (3,4% of the total number). The distribution among sexes was 3,35% (18/537) in male and 3,43% (14/407) in female subjects. The mean values of APC-SR (1,64 in male and 1,71 in female subjects) were not significantly different (P = 0,22). Based on these results, we conclude that the prevalence of APC resistance in Albanian population of Kosovo is within the lower limit of prevalence in general population in different countries of European countries, which, according to some authors ranges is from 3 to 7%.
Asunto(s)
Resistencia a la Proteína C Activada/etnología , Resistencia a la Proteína C Activada/epidemiología , Donantes de Sangre , Resistencia a la Proteína C Activada/sangre , Adolescente , Adulto , Anciano , Factor V/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación Puntual/genética , Prevalencia , Estudios Retrospectivos , Trombofilia/genética , Adulto Joven , Yugoslavia/epidemiologíaRESUMEN
Several risk factors for deep venous thrombosis (DVT) have been identified, and inherited thrombophilias constitute a significant proportion of them. The most common inherited thrombophilia is activated protein C (APC) resistance, and factor V Leiden is the most common cause of APC resistance. The high prevalence of APC resistance in Caucasians is established, and the prevalence among persons of Asian and African descent has been shown to be low in previous studies. Twenty-three patients with lower limb DVT were included in the study. Diagnosis was confirmed by duplex ultrasonography. Patients were tested for APC resistance with use of the STA Staclot APC-R system (Diagnostica Stago, Asnieres, France), as per the manufacturer's guidelines. Ten patients (43.5%) tested positive for APC resistance, while 13 (56.5%) tested negative. APC resistance, although considered a rarity, has been found to have a high prevalence in patients with DVT from the northeastern region of India. APC resistance estimation should be done for all patients with DVT.
Asunto(s)
Resistencia a la Proteína C Activada/complicaciones , Extremidad Inferior/irrigación sanguínea , Trombosis de la Vena/etiología , Resistencia a la Proteína C Activada/sangre , Resistencia a la Proteína C Activada/etnología , Adulto , Pueblo Asiatico , Población Negra , Pruebas de Coagulación Sanguínea , Femenino , Humanos , India/epidemiología , Masculino , Persona de Mediana Edad , Prevalencia , Factores de Riesgo , Ultrasonografía Doppler Dúplex , Trombosis de la Vena/sangre , Trombosis de la Vena/diagnóstico por imagen , Trombosis de la Vena/etnología , Adulto JovenRESUMEN
We have shown that in Mexican mestizo patients with clinical features of primary thrombophilia, 39% have activated protein C resistance phenotype, 5% protein C deficiency, and 2% protein S deficiency. In the present study, in a group of 37 thrombophilic Mexicans and 50 normal controls, we assessed the factor V G1691A (Leiden), the prothrombin G20210A, and the methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphisms. Four patients were found to be heterozygous for factor V Leiden, 5 heterozygous for the prothrombin 20210, 16 heterozygous, and 6 homozygous for the MTHFR 677. There were four individuals with co-segregation of alleles: two heterozygotes for the factor V Leiden/prothrombin 20210, one heterozygote for prothrombin 20210/MTHFR 677, and one heterozygote for prothrombin 20210/homozygote for MTHFR 677. For factor V Leiden, prothrombin 20210, and MTHFR 677 mutations, the allele frequencies were respectively 1% (+/-0.2%, alpha = 0.05), <1% and 51% (+/-5%, alpha = 0.05), with calculated relative risks for thrombosis of 5.94 (P = 0.08), >7.66 (P < 0.05), and 0.44 (P NS), respectively. In Mexican mestizo thrombophilic patients, the low prevalence of the factor V Leiden mutation (10.8%) and the high prevalence of the prothrombin 20210 mutation (13.5%) contrast with those identified in Caucasian thrombophilic patients (21% and 6%, respectively; P < 0.01). On the other hand, the high prevalence of the MTHFR 677 mutation gene both in normal controls (78%) and thrombophilic patients (61%) does not support a role of this mutation in the thrombogenesis of Mexican mestizo patients.
Asunto(s)
Resistencia a la Proteína C Activada/epidemiología , Factor V/análisis , Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH/genética , Protrombina/genética , Trombofilia/epidemiología , Regiones no Traducidas 3'/genética , Resistencia a la Proteína C Activada/etnología , Resistencia a la Proteína C Activada/genética , Adolescente , Adulto , Alelos , Sustitución de Aminoácidos , Población Negra/genética , Niño , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Indígenas Norteamericanos/genética , Masculino , Matrimonio , Metilenotetrahidrofolato Reductasa (NADPH2) , México/epidemiología , Persona de Mediana Edad , Mutación Puntual , Prevalencia , Estudios Prospectivos , Trombofilia/etnología , Trombofilia/genética , Población Blanca/genéticaAsunto(s)
Factor V/historia , Resistencia a la Proteína C Activada/etnología , Resistencia a la Proteína C Activada/genética , Resistencia a la Proteína C Activada/historia , Asia/etnología , Emigración e Inmigración/historia , Etnicidad/historia , Europa (Continente)/etnología , Factor V/genética , Frecuencia de los Genes , Genética Médica/historia , Historia del Siglo XXI , Historia Antigua , Humanos , Mutación , Grupos Raciales/genética , Grupos Raciales/historiaAsunto(s)
Resistencia a la Proteína C Activada/etnología , Factor V/genética , Nativos de Hawái y Otras Islas del Pacífico/genética , Protrombina/genética , Trombofilia/etnología , Regiones no Traducidas 3' , Resistencia a la Proteína C Activada/genética , Australia/epidemiología , Frecuencia de los Genes , Humanos , Prevalencia , Trombofilia/genética , Población Blanca/genéticaAsunto(s)
Resistencia a la Proteína C Activada/etnología , Pueblo Asiatico/genética , Población Negra/genética , Factor V/genética , Frecuencia de los Genes , Mutación Puntual , Población Blanca/genética , Resistencia a la Proteína C Activada/genética , Etnicidad/genética , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Matrimonio , Embarazo , Complicaciones Hematológicas del Embarazo/etnología , Factores de Riesgo , Sudáfrica/epidemiología , Trombofilia/etnología , Trombofilia/genética , Trombosis de la Vena/etnología , Trombosis de la Vena/genéticaAsunto(s)
Resistencia a la Proteína C Activada/genética , Factor V/genética , Mutación Puntual , Embolia Pulmonar/etiología , Trombofilia/genética , Resistencia a la Proteína C Activada/complicaciones , Resistencia a la Proteína C Activada/etnología , Adulto , China/etnología , Etnicidad/genética , Efecto Fundador , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Heterocigoto , Hong Kong , Humanos , Masculino , Tailandia/epidemiología , Trombofilia/complicaciones , Trombofilia/etnología , Trombosis/epidemiología , Trombosis/genéticaAsunto(s)
Regiones no Traducidas 3'/genética , Resistencia a la Proteína C Activada/genética , Deficiencia del Factor V/genética , Factor V/genética , Protrombina/genética , Romaní/genética , Trombofilia/genética , Resistencia a la Proteína C Activada/etnología , Alelos , Consanguinidad , Deficiencia del Factor V/etnología , Femenino , Frecuencia de los Genes , Pruebas Genéticas , Genotipo , Humanos , Hungría/epidemiología , Masculino , Trombofilia/etnologíaRESUMEN
The prevalence of APC resistance in healthy Jordanian Arabs was studied. Between October 1996 through September 1997 a total of 400 healthy subjects were studied. There were 212 males and 188 females. APC resistance was studied by functional and DNA methods. There were a total of 52 subjects (13%) who were APC resistant by the functional test. There were 49 subjects (12.25%) who had FV Q506 by DNA test. Of these there were 42 heterozygous and 7 homozygous (allele frequency 0.07). None of the subjects had clinical thrombosis. It is concluded that the prevalence of APC resistance due to FV Q506 is high in Jordanian Arabs.
Asunto(s)
Resistencia a la Proteína C Activada/etnología , Resistencia a la Proteína C Activada/epidemiología , Árabes , Factor V/genética , Árabes/genética , Árabes/estadística & datos numéricos , ADN/aislamiento & purificación , Femenino , Humanos , Jordania/epidemiología , Masculino , Mutación Puntual , Reacción en Cadena de la Polimerasa , Prevalencia , Análisis de Secuencia de ADNAsunto(s)
Resistencia a la Proteína C Activada/etnología , Sustitución de Aminoácidos , Etnicidad/genética , Deficiencia del Factor V/etnología , Factor V/genética , Mutación Missense , Mutación Puntual , Grupos Raciales/genética , Resistencia a la Proteína C Activada/genética , África/etnología , Asia/etnología , Pueblo Asiatico/genética , Brasil/epidemiología , China/etnología , Análisis Mutacional de ADN , Europa (Continente)/etnología , Deficiencia del Factor V/genética , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Humanos , Indígenas Sudamericanos/genética , Prevalencia , Población Blanca/genéticaRESUMEN
A group of 102 Mexican Mestizo patients with appropriate clinical features suggestive of primary thrombophilia was prospectively studied. Thirty-nine percent of them had activated protein C resistance, but only four patients displayed the factor V Leiden mutation. Five percent of the individuals were found to be protein C deficient, whereas 2% had protein S deficiency. No cases of abnormalities in antithrombin III, plasminogen, tissue-type plasminogen activator or plasminogen activator inhibitor were found. The low prevalence of the activated protein C resistance genotype, probably stemming from the genetic admixture of the Mexican Mestizo group is noteworthy.
