Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0034065 (pulmonary embolism)
 14,979 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We investigated the influence of the ABO blood group in the observed prevalences of the recently described factor V R506Q and factor II G20210A mutations in a thrombotic population. We determined the ABO blood group in a sample of 178 unselected patients (aged 17-83 years), diagnosed at our center with deep vein thrombosis or pulmonary embolism. The results of this study show a high prevalence of thrombosis in the non-O blood group. In the general population, the prevalence as a fraction of the O blood group was 2.69 (confidence interval 1.90-3.82). Of the factor V R506Q carriers (n = 28), only one had O group blood and 27 of 28 were non-O (24 A, one B and two AB). However, within the group of factor II G20210A carriers (n = 17), seven had O, nine A and one B type blood. The prevalence of the factor V R506Q mutation within the O blood group was 2.4% (one of 42), significantly lower than in the A group (23.3%, 24 of 103; P = 0.002), or in the overall non-O group (19.9%, 27 of 136; P = 0.006). This prevalence was similar to that observed previously in the non-thrombotic population in our area (3.5%; P = 0.9). We analyzed the clotting activity of factor VIII and we found higher levels in the non-O group (1.78+/-0.61 U/ml) than in the O blood group (1.30+/-0.51 U/ ml; P < 0.0001). We speculate that factor Va in individuals with the factor V Leiden mutation could interact with the high levels of factor VIII clotting activity as a necessary cofactor.
 ...
PMID:The O blood group protects against venous thromboembolism in individuals with the factor V Leiden but not the prothrombin (factor II G20210A) mutation. 1045 23

ABO blood group antigens are expressed on von Willebrand factor (VWF) and glycosylation patterns influence circulating VWF levels. The aim of this study was to examine the effect of ABO blood type on tissue-associated VWF protein levels. We selected 35 formalin-fixed paraffin-embedded pulmonary tissue blocks obtained at autopsy from decedents who died from pulmonary embolism with known ABO blood groups (O, A, B and AB phenotypes), prepared tissue microarrays (TMAs) and stained TMAs with antibodies to VWF and platelet/endothelial cell adhesion marker-1 (PECAM-1) as a marker of endothelial cells. A pixel count scoring algorithm was used to quantify VWF and PECAM-1 staining intensity in pulmonary arterioles in digitised images. Compared with type O, non-O individuals have a significantly higher amount of endothelial cell-associated VWF protein expression. VWF protein levels associated with pulmonary vascular endothelial cells is influenced by ABO antigenic determinants.
 ...
PMID:ABO blood group is a determinant of von Willebrand factor protein levels in human pulmonary endothelial cells. 3166 41

ABO blood group has been associated with various disease phenotypes. However, ABO blood group to influence patients in risk of venous thromboembolic events (VTEs) and arterial thromboembolic events (ATEs) remains controversial after evaluation in several reports. To fully assess effects of ABO blood group on VTEs and ATEs, we conducted a cross-sectional study and investigated the interaction between blood group and age, and between blood group and sex on the prevalence of VTEs and ATEs. In addition, the effect of blood group on ATEs in patients with atrial fibrillation (AF) was observed. Detailed information of 7830 patients was collected. Multivariate logistic regression analyses were used to evaluate the association between blood group and VTEs, pulmonary embolism (PE) and myocardial infarction (MI). In those 7830 patients, the respective risk of VTEs and PE was higher for patients with blood group A compared with blood group O individually. In those 6713 patients with rheumatic heart disease, cardiomyopathy, myocarditis, constrictive pericarditis, or valvular heart disease excluded, blood group A was associated with the risk of MI. For VTEs, PE, and MI, blood group also exhibited significant interactions with sex and age, although there was no evidence of interaction between blood group and age for VTEs. In addition, interactions among blood group, age, and AF for the ATEs were observed. Similar to prior population studies an association of ABO blood group with susceptibility to VTEs and MI was found. Age and sex may modulate the association between ABO blood group and these thromboembolic diseases.
 ...
PMID:ABO blood group influences risk of venous thromboembolism and myocardial infarction. 3182 Feb 63