Juan Carlos Souto

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BACKGROUND Oral anticoagulation prevents strokes in patients with atrial fibrillation but, for reasons that remain unclear, less than 40% of all patients with atrial fibrillation receive warfarin. The literature postulates that patient and clinician preferences may explain this low utilization. DESIGN The proposed research seeks to answer the following(More)
This paper proposes the clustering of individuals given their genotype using a normalized Mutual Information dissimilarity distance. This method is applied to a Single Nucleotyde Polymorphism set belonging to F7 gene, uncovering the intrinsic genetic variability on one Spanish population. This genetic variability corresponds to results published using a(More)
BACKGROUND Genetics plays an important role in venous thromboembolism (VTE). Factor V Leiden (FVL or rs6025) and prothrombin gene G20210A (PT or rs1799963) are the genetic variants currently tested for VTE risk assessment. We hypothesized that primary VTE risk assessment can be improved by using genetic risk scores with more genetic markers than just(More)
Altered mitochondrial DNA (mtDNA) levels have been associated with common diseases in humans. We investigated the genetic mechanism that controls mtDNA levels using genome-wide linkage analyses in families from the Genetic Analysis of Idiopathic Thrombophilia Project (GAIT). We measure mtDNA levels by quantitative real-time PCR in 386 subjects from 21(More)
BACKGROUND Venous thromboembolism (VTE) is a common disease where known genetic risk factors explain only a small portion of the genetic variance. Then, the analysis of intermediate phenotypes, such as thrombin generation assay, can be used to identify novel genetic risk factors that contribute to VTE. OBJECTIVES To investigate the genetic basis of(More)
INTRODUCTION Several studies have analysed the platelet parameters in human blood, nevertheless there are no extensive analyses on the less common platelet phenotypes. The main objective of our study is to evaluate the age and gender effects on 15 platelet phenotypes. METHODS We studied 804 individuals, ranging in age from 2 to 93 years, included in the(More)
BACKGROUND Vitamin K antagonists are commonly used for the prevention of thromboembolic events. Patient self-monitoring of vitamin K antagonists has proved superior to usual care. Dabigatran has been shown, relative to warfarin, to reduce thromboembolic events without increasing bleeding. METHODS We constructed a Markov model to compare vitamin K(More)
The haemostatic relevance of antithrombin together with the low genetic variability of SERPINC1, and the high heritability of plasma levels encourage the search for modulating genes. We used a hypothesis-free approach to identify these genes, evaluating associations between plasma antithrombin and 307,984 polymorphisms in the GAIT study (352 individuals(More)
The Protein C anticoagulant pathway regulates blood coagulation by preventing the inadequate formation of thrombi. It has two main plasma components: protein C and protein S. Individuals with protein C or protein S deficiency present a dramatically increased incidence of thromboembolic disorders. Here, we present the results of a genome-wide association(More)
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