Dataset Information

Association of vWA and TPOX polymorphisms with venous thrombosis in Mexican mestizos.

ABSTRACT: OBJECTIVE: Venous thromboembolism (VTE) is a multifactorial disorder and, worldwide, the most important cause of morbidity and mortality. Genetic factors play a critical role in its aetiology. Microsatellites are the most important source of human genetic variation having more phenotypic effect than many single nucleotide polymorphisms. Hence, we evaluate a possible relationship between VTE and the genetic variants in von Willebrand factor, human alpha fibrinogen, and human thyroid peroxidase microsatellites to identify possible diagnostic markers. METHODS: Genotypes were obtained from 177 patients with VTE and 531 nonrelated individuals using validated genotyping methods. The allelic frequencies were compared; Bayesian methods were used to correct population stratification to avoid spurious associations. RESULTS: The vWA-18, TPOX-9, and TPOX-12 alleles were significantly associated with VTE. Moreover, subjects bearing the combination vWA-18/TPOX-12 loci exhibited doubled risk for VTE (95% CI = 1.02-3.64), whereas the combination vWA-18/TPOX-9 showed an OR = 10 (95% CI = 4.93-21.49). CONCLUSIONS: The vWA and TPOX microsatellites are good candidate biomarkers in venous thromboembolism diseases and could help to elucidate their origins. Additionally, these polymorphisms could become useful markers for genetic studies of VTE in the Mexican population; however, further studies should be done owing that this data only show preliminary evidence.

SUBMITTER: Meraz-Rios MA

PROVIDER: S-EPMC4164132 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Association of vWA and TPOX polymorphisms with venous thrombosis in Mexican mestizos.

Meraz-Ríos Marco Antonio MA Majluf-Cruz Abraham A Santana Carla C Noris Gino G Camacho-Mejorado Rafael R Acosta-Saavedra Leonor C LC Calderón-Aranda Emma S ES Hernández-Juárez Jesús J Magaña Jonathan J JJ Gómez Rocío R

BioMed research international 20140831

<h4>Objective</h4>Venous thromboembolism (VTE) is a multifactorial disorder and, worldwide, the most important cause of morbidity and mortality. Genetic factors play a critical role in its aetiology. Microsatellites are the most important source of human genetic variation having more phenotypic effect than many single nucleotide polymorphisms. Hence, we evaluate a possible relationship between VTE and the genetic variants in von Willebrand factor, human alpha fibrinogen, and human thyroid peroxi ...[more]

PMID: 25250329

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Project description:BACKGROUND:Tissue factor pathway inhibitor (TFPI) polymorphisms are known to be involved in venous thrombosis; however, any correlation between the TFPI polymorphisms rs8176592, rs10931292, and rs10153820 and venous thrombosis remains controversial. This meta-analysis aimed to elucidate the relationship between these TFPI polymorphisms and the susceptibility to venous thrombosis. METHODS:A literature search for relevant studies was conducted in PubMed, Embase, Cochrane Library, China National Knowledge Infrastructure (CNKI), and Wanfang Med Online databases. Odds ratios (ORs) and their corresponding 95% confidence intervals (95% CIs) were calculated using fixed-effect/random-effect models by the STATA 12.0 software. Sources of heterogeneity were analyzed by subgroup analysis. RESULTS:Eleven case-control studies involving 3740 subjects (1362 venous thrombosis patients and 2378 healthy controls) were included. The TFPI rs8176592 polymorphism was associated with increased risk of venous thrombosis in the whole population, while no significant association was found between rs10931292/rs10153820 and venous thrombosis. In subgroup analysis based on ethnicity, an increased risk was observed with rs8176592 polymorphism in Asians (Recessive model, OR?=?1.48, 95% CI?=?1.06-2.07, P?=?.023). An increased risk associated with rs10931292 was identified in non-Asians (Recessive model, OR?=?1.42, 95% CI?=?1.03-1.97, P?=?.033). No significant association was found in either Asians or non-Asians with the rs10153820 polymorphism. In subgroup analysis based on source of controls, increased risks were identified in the hospital-based group with rs8176592 polymorphism and in the population-based group with rs10931292 polymorphism, whereas decreased risk was identified in the hospital-based group with the rs10931292 and rs10153820 polymorphisms. CONCLUSION:Meta-analysis suggested that different TFPI polymorphisms may have different associations with venous thrombosis. TFPI rs8176592 polymorphism may increase the risk of venous thrombosis, especially in Asians and hospital-based patients. The TFPI rs10931292 polymorphism may increase the venous thrombosis risk for both non-Asians and population-based patients. Moreover, rs10931292 and rs10153820 polymorphisms of TFPI may decrease the risk of venous thrombosis for hospital-based patients.

Project description:BackgroundVascular complications of acute pancreatitis are common. Splanchnic thrombosis accounts for 11% of these complications, whereas extrasplanchnic thrombosis remains a rare entity. These complications are associated with high morbidity and mortality. Diagnosis is established on the basis of clinical and radiological evaluation, especially computed tomography. Renal vein thrombosis has been reported previously, but only in association with thrombosis of the inferior vena cava. To our knowledge, renal vein thrombosis without inferior vena cava thrombosis has never been reported in the literature. We report a case of a woman who developed acute pancreatitis complicated with splanchnic thrombosis and renal vein thrombosis with a patent inferior vena cava.Case presentationA 48-year-old Moroccan woman with no significant past medical history presented to our emergency department with worsening epigastric pain and vomiting. Her physical examination was notable only for moderate epigastric tenderness. She was apyrexic and had no jaundice or any features of liver failure. An initial computed tomographic scan showed Balthazar grade C pancreatitis with multiple splanchnic thromboses involving the portal vein, superior mesenteric vein, and left renal vein and enteromesenteric venous infarct with no signs of bowel perforation. The inferior vena cava was patent. Therapeutic anticoagulation and analgesia were started with resumption of enteral feeding 72?h later. The result of a thrombophilia screen was negative. Two months later, the patient was admitted to the intensive care unit with acute liver failure. Computed tomography of the abdomen showed worsening ischemic liver lesions and no signs of bowel perforation. Biochemical analysis showed acute hepatitis with hepatocellular insufficiency. The clinical evolution was unfavorable, and the patient died 48?h later.ConclusionsAssociation of splanchnic and renal vein thrombosis without inferior vena cava thrombosis as a complication of acute pancreatitis has never been reported before. There are no specific aspects of management of this complication; therapeutic anticoagulation and symptomatic treatment are the main measures used owing to the lack of available organs for liver transplant. The prognosis depends on the consequences of splanchnic thrombosis and their complications.

Dataset Information

Association of vWA and TPOX polymorphisms with venous thrombosis in Mexican mestizos.

Publications

Association of vWA and TPOX polymorphisms with venous thrombosis in Mexican mestizos.

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