Erytrocyte-related phenotypes and genetic susceptibility to thrombosis
| Autor: | Angel F. Remacha, M. Pilar Sardà, Josep F. Nomdedeu, Jordi Fontcuberta, Nuria Pujol-Moix, José Manuel Soria, Andrey Ziyatdinov, Juan Souto, Joan Millón, Noelia Vilalta |
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| Rok vydání: | 2016 |
| Předmět: |
Adult
Male medicine.medical_specialty Reticulocytes Erythrocytes Adolescent Iron 030204 cardiovascular system & hematology Biology Hematocrit Thrombophilia Gastroenterology Heritability 03 medical and health sciences 0302 clinical medicine Total iron-binding capacity Internal medicine Receptors Transferrin medicine Genetic predisposition Humans Genetic Predisposition to Disease cardiovascular diseases Child Molecular Biology Aged Aged 80 and over Haptoglobins medicine.diagnostic_test Haptoglobin Thrombosis Red blood cell distribution width Venous Thromboembolism Cell Biology Hematology Middle Aged equipment and supplies medicine.disease Pedigree Red blood cell Child Preschool Immunology Serum iron biology.protein Molecular Medicine Female 030215 immunology |
| Zdroj: | BLOOD CELLS MOLECULES AND DISEASES r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau instname |
| ISSN: | 1079-9796 |
| DOI: | 10.1016/j.bcmd.2016.04.006 |
| Popis: | Venous thromboembolism(VTE) is a common disease that involves the interaction of genetic and environmental risk factors. Previous studies have estimated a heritability of approximately 60% for the risk of VTE. Using variance analysis, intermediate phenotypes related to thrombosis have been used to identify genetic risk factors. Erythrocyte intermediate phenotypes are good candidates for VTE risk factors. We investigated the relationship of erythrocyte-related phenotypes with the risk of VTE. Our study used the Genetic Analysis of Idiopathic Thrombophilia 2 (GAIT2 Project) sample, which consisted of 35 extended pedigrees (including a total of 935 individuals). The sample had 120 subjects with thromboembolism (86 with VTE, 47 with arterial thrombosis and 13 with both). The following risk factors were evaluated: Red blood cell parameters, reticulocytes, serum iron, total iron binding capacity, serumferritin, serum transferrin receptor (STFR), and haptoglobin. Using the variance component method, heritability (h(2)) and the phenotypic, genetic and environmental correlations with VTE were estimated. The h(2) of VTE was 0.67. Most erythrocyte parameters showed significantly high h2. In addition, VTE was genetically correlated with: hematocrit (rho(G) = 0.52, p = 0.01), red blood cell distribution width (RDW) (rho(G) = 0.28, p = 0.05), immature reticulocyte fraction (IRF) (rho(G) = 0.45, p = 0.008), transferrin saturation index (rho(G) = -0.7, p = 0.05), and STFR (rho(G) = 0.4, p = 0.006). In conclusion, a genetic relationship between erythrocyte intermediate phenotypes and VTE was demonstrated. Also, we identified 5 phenotypes as risk factors. These phenotypes are useful in the search for genes that affect VTE. (C) 2016 Elsevier Inc. All rights reserved. |
| Databáze: | OpenAIRE |
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