ERYTROCYTE-RELATED PHENOTYPES AND GENETIC SUSCEPTIBILITY TO THROMBOSIS
(Abstract release date: 05/19/16)
EHA Library. F Remacha A. 06/09/16; 133105; E1556
Dr. Angel F Remacha
Contributions
Contributions
Abstract
Abstract: E1556
Type: Eposter Presentation
Background
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 identified genetic risk factors. Erythrocyte-related phenotypes are considered good risk factors.
Aims
To investigate the relationship of erythrocyte-related phenotypes with the risk of VTE.
Methods
Our study used the Genetic Analysis of Idiopathic Thrombophilia 2 (GAIT 2 Project) sample, which consisted of extended pedigrees (935 individuals). The sample had 120 subjects with thromboembolism (86 with VTE, 47 with arterial thrombosis and 13 with both). The following possible risk factors were evaluated: Red blood cell and indices, reticulocytes, serum iron, total iron binding capacity, serum ferritin, serum transferrin receptor (STFR), haptoglobin, serum vitamin B12 (B12), serum folate and red blood cell folate. Using the variance component method, heritability (h2), the household effect and all of the phenotypic, genetic and environmental correlations with VTE were estimated.
Results
The h2 of VTE was 0.67. Most erythrocyte parameters showed significantly high h2. In addition, VTE was correlated with: hematocrit (0.52, p=0.01), red blood cell distribution width (RDW) (0.28, p=0.05), immature reticulocyte fraction (IRF) (0.45, p=0.008), transferrin saturation index (-0.7, p=0.05), STFR (0.4, p=0.006), and B12 (0.34, p=0.03).
Conclusion
We demonstrated a genetic relationship between erythrocyte phenotypes and VTE, and we identified 6 intermediate phenotypes as risk factors. We suggest that these risk factors will be useful in the search for thrombosis-related genes.This work was supported by the following Spanish grants: FIS PI11/0184, FIS PI12/00612, Red Investigación Cardiovascular RD12/0042/0032, and for the following grants from the Generalitat de Catalunya: AGAUR 2009 SGR/1147 and AGAUR 2009 SGR/1240. Juan Millon was supported by Institut de Recerca contra la leucèmia Josep Carreras (IJC)
Session topic: E-poster
Keyword(s): Iron, Red blood cell, Reticulocyte, Thrombosis
Type: Eposter Presentation
Background
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 identified genetic risk factors. Erythrocyte-related phenotypes are considered good risk factors.
Aims
To investigate the relationship of erythrocyte-related phenotypes with the risk of VTE.
Methods
Our study used the Genetic Analysis of Idiopathic Thrombophilia 2 (GAIT 2 Project) sample, which consisted of extended pedigrees (935 individuals). The sample had 120 subjects with thromboembolism (86 with VTE, 47 with arterial thrombosis and 13 with both). The following possible risk factors were evaluated: Red blood cell and indices, reticulocytes, serum iron, total iron binding capacity, serum ferritin, serum transferrin receptor (STFR), haptoglobin, serum vitamin B12 (B12), serum folate and red blood cell folate. Using the variance component method, heritability (h2), the household effect and all of the phenotypic, genetic and environmental correlations with VTE were estimated.
Results
The h2 of VTE was 0.67. Most erythrocyte parameters showed significantly high h2. In addition, VTE was correlated with: hematocrit (0.52, p=0.01), red blood cell distribution width (RDW) (0.28, p=0.05), immature reticulocyte fraction (IRF) (0.45, p=0.008), transferrin saturation index (-0.7, p=0.05), STFR (0.4, p=0.006), and B12 (0.34, p=0.03).
Conclusion
We demonstrated a genetic relationship between erythrocyte phenotypes and VTE, and we identified 6 intermediate phenotypes as risk factors. We suggest that these risk factors will be useful in the search for thrombosis-related genes.This work was supported by the following Spanish grants: FIS PI11/0184, FIS PI12/00612, Red Investigación Cardiovascular RD12/0042/0032, and for the following grants from the Generalitat de Catalunya: AGAUR 2009 SGR/1147 and AGAUR 2009 SGR/1240. Juan Millon was supported by Institut de Recerca contra la leucèmia Josep Carreras (IJC)
Session topic: E-poster
Keyword(s): Iron, Red blood cell, Reticulocyte, Thrombosis
Abstract: E1556
Type: Eposter Presentation
Background
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 identified genetic risk factors. Erythrocyte-related phenotypes are considered good risk factors.
Aims
To investigate the relationship of erythrocyte-related phenotypes with the risk of VTE.
Methods
Our study used the Genetic Analysis of Idiopathic Thrombophilia 2 (GAIT 2 Project) sample, which consisted of extended pedigrees (935 individuals). The sample had 120 subjects with thromboembolism (86 with VTE, 47 with arterial thrombosis and 13 with both). The following possible risk factors were evaluated: Red blood cell and indices, reticulocytes, serum iron, total iron binding capacity, serum ferritin, serum transferrin receptor (STFR), haptoglobin, serum vitamin B12 (B12), serum folate and red blood cell folate. Using the variance component method, heritability (h2), the household effect and all of the phenotypic, genetic and environmental correlations with VTE were estimated.
Results
The h2 of VTE was 0.67. Most erythrocyte parameters showed significantly high h2. In addition, VTE was correlated with: hematocrit (0.52, p=0.01), red blood cell distribution width (RDW) (0.28, p=0.05), immature reticulocyte fraction (IRF) (0.45, p=0.008), transferrin saturation index (-0.7, p=0.05), STFR (0.4, p=0.006), and B12 (0.34, p=0.03).
Conclusion
We demonstrated a genetic relationship between erythrocyte phenotypes and VTE, and we identified 6 intermediate phenotypes as risk factors. We suggest that these risk factors will be useful in the search for thrombosis-related genes.This work was supported by the following Spanish grants: FIS PI11/0184, FIS PI12/00612, Red Investigación Cardiovascular RD12/0042/0032, and for the following grants from the Generalitat de Catalunya: AGAUR 2009 SGR/1147 and AGAUR 2009 SGR/1240. Juan Millon was supported by Institut de Recerca contra la leucèmia Josep Carreras (IJC)
Session topic: E-poster
Keyword(s): Iron, Red blood cell, Reticulocyte, Thrombosis
Type: Eposter Presentation
Background
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 identified genetic risk factors. Erythrocyte-related phenotypes are considered good risk factors.
Aims
To investigate the relationship of erythrocyte-related phenotypes with the risk of VTE.
Methods
Our study used the Genetic Analysis of Idiopathic Thrombophilia 2 (GAIT 2 Project) sample, which consisted of extended pedigrees (935 individuals). The sample had 120 subjects with thromboembolism (86 with VTE, 47 with arterial thrombosis and 13 with both). The following possible risk factors were evaluated: Red blood cell and indices, reticulocytes, serum iron, total iron binding capacity, serum ferritin, serum transferrin receptor (STFR), haptoglobin, serum vitamin B12 (B12), serum folate and red blood cell folate. Using the variance component method, heritability (h2), the household effect and all of the phenotypic, genetic and environmental correlations with VTE were estimated.
Results
The h2 of VTE was 0.67. Most erythrocyte parameters showed significantly high h2. In addition, VTE was correlated with: hematocrit (0.52, p=0.01), red blood cell distribution width (RDW) (0.28, p=0.05), immature reticulocyte fraction (IRF) (0.45, p=0.008), transferrin saturation index (-0.7, p=0.05), STFR (0.4, p=0.006), and B12 (0.34, p=0.03).
Conclusion
We demonstrated a genetic relationship between erythrocyte phenotypes and VTE, and we identified 6 intermediate phenotypes as risk factors. We suggest that these risk factors will be useful in the search for thrombosis-related genes.This work was supported by the following Spanish grants: FIS PI11/0184, FIS PI12/00612, Red Investigación Cardiovascular RD12/0042/0032, and for the following grants from the Generalitat de Catalunya: AGAUR 2009 SGR/1147 and AGAUR 2009 SGR/1240. Juan Millon was supported by Institut de Recerca contra la leucèmia Josep Carreras (IJC)
Session topic: E-poster
Keyword(s): Iron, Red blood cell, Reticulocyte, Thrombosis
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