Study of 18 functional hemostatic polymorphisms in mucocutaneous bleeding disorders

Antón, Ana Isabel; Gónzález-Conejero, Rocío; Roldán, Vanessa; Quiroga, Teresa; Sánchez-Vega, Beatriz; Corral, Javier; Vicente, Vicente; Mezzano, Diego

doi:10.1007/s00277-010-1000-7

Cited by 3 publications

(5 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Furthermore, as assessment of methodologic quality, we decided to consider higher quality studies in which investigators did not use population data as controls. [13][14][15][16][17][18][19][20][21][22][23]…”

Section: Study Validity Assessment and Sensitivity Analysesmentioning

confidence: 99%

“…We finally planned a priori subgroup analyses, including only patients with mucosal (gastrointestinal and mucocutaneous) hemorrhages. [13][14][15][16][17][22][23][24][25][26][27][28][29][30] Data Synthesis and Data Analyses…”

Section: Subgroup Analysesmentioning

confidence: 99%

“…Therefore, 22 studies were finally included in our systematic review. [13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][33][34][35][36]…”

Section: Study Identification and Selectionmentioning

confidence: 99%

“…Baseline characteristics of included studies are summarized in ►Table 2. All included studies provided data on the prevalence of blood groups in patients with bleeding events and in controls: cases included patients with upper gastrointestinal bleeding (12 studies [13][14][15][16][17]24,[26][27][28]30,33,34,36 ), patients with cerebral hemorrhage (2 studies 34,35 ), patients with intra-or postpartum hemorrhage (1 study 20 ), patients with mucouscutaneous hemorrhage (2 studies 23,29 ), patients with epistaxis (1 study 22 ), patients with menorrhagia (1 study 25 ), patients with bleeding during anticoagulant treatment (2 studies 18,19 ), and patients with general bleeding problems (1 study 21 ). For 9 studies, a subgroup of patients included in the original study was selected for the aim of our systematic review.…”

Section: Study Characteristicsmentioning

confidence: 99%

See 3 more Smart Citations

Relationship between ABO Blood Group and Hemorrhage: A Systematic Literature Review and Meta-Analysis

Dentali

Sironi

Ageno

et al. 2013

Semin Thromb Hemost

View full text Add to dashboard Cite

Several studies have suggested that patients with non-O blood group have an increased risk of both venous and arterial thromboembolic events. On the contrary, the role of ABO blood group on the risk of bleeding complications remains unclear. Thus, we performed a meta-analysis of the literature with the aim of assessing this potential association. MEDLINE and Embase databases were searched from 1946 to March 2012. Studies comparing the prevalence of different ABO blood groups in bleeding patients as well as in controls without bleeding complications were potentially includible. Two reviewers independently selected studies and extracted study characteristics, quality, and outcomes. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated for each trial and pooled using a random-effects model. Twenty-two studies totalling 9,468 bleeding patients and more than 450,000 controls were included. The prevalence of O blood group was significantly higher in bleeding patients than in controls, with a resulting pooled OR of 1.33 (95% CI = 1.25 to 1.42; p < 0.001). The result of this meta-analysis of a very large sample of bleeding patients and controls suggests that O blood group is a potentially important genetic risk factor for bleeding. High-quality prospective studies are warranted to confirm these preliminary findings.

show abstract

Section: Study Validity Assessment and Sensitivity Analysesmentioning

confidence: 99%

Section: Subgroup Analysesmentioning

confidence: 99%

“…Therefore, 22 studies were finally included in our systematic review. [13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][33][34][35][36]…”

Section: Study Identification and Selectionmentioning

confidence: 99%

Section: Study Characteristicsmentioning

confidence: 99%

See 2 more Smart Citations

Relationship between ABO Blood Group and Hemorrhage: A Systematic Literature Review and Meta-Analysis

Dentali

Sironi

Ageno

et al. 2013

Semin Thromb Hemost

View full text Add to dashboard Cite

show abstract

“…ITGA2 is responsible for adhesion of platelets and other cells to collagens [16,19], which was known to be highly associated with aortic aneurysm and IA. Moreover, both ITGA2 and TTN were involved in hemostasis [3,30]. Notably, Notch signaling plays a pivotal role during vascular development [4,18].…”

Section: Putative Pathogenic Genes For Sahsmentioning

confidence: 99%

Exome sequencing study revealed novel susceptibility loci in subarachnoid hemorrhage (SAH)

Hao

Pang

et al. 2020

Mol Brain

View full text Add to dashboard Cite

Aim: To expand our current understanding of the genetic basis of subarachnoid hemorrhage (SAH), and reveal the susceptibility genes in SAH risk. Methods: We conducted whole-exome sequencing (WES) in a cohort of 196 individuals, including 94 SAH patients and 94 controls, as well as 8 samples that belong to two pedigrees. Systematically examination for rare variations (through direct genotyping) and common variations (through genotyping and imputation) for SAHs were performed in this study.Results: A total of 16,029 single-nucleotide polymorphisms (SNPs) and 108,999 short indels were detected in all samples, and among them, 30 SNPs distributed on 17 genes presented a strong association signal with SAH. Two novel pathogenic gene variants were identified as associated risk loci, including mutation in TPO and PALD1. The statistical analysis for rare, damaging variations in SAHs identified several susceptibility genes which were involved in degradation of the extracellular matrix and transcription factor signal pathways. And 25 putative pathogenic genes for SAH were also identified basic on functional interaction network analysis with the published SAHassociated genes. Additionally, pedigree analysis revealed autosomal dominant inheritance of pathogenic genes. Conclusion:Systematical analysis revealed a key role for rare variations in SAH risk and discovered SNPs in new complex loci. Our study expanded the list of candidate genes associated with SAH risk, and will facilitate the investigation of disease-related mechanisms and potential clinical therapies.

show abstract

Association of ABO blood group with bleeding severity in patients with bleeding of unknown cause

et al. 2020

View full text Add to dashboard Cite

Blood group O has been associated with an increased bleeding tendency due to lower von Willebrand factor (VWF) and factor VIII (FVIII) levels. We explored whether blood group O is independently associated with bleeding severity in patients with mild-to-moderate bleeding of unknown cause (BUC) in the Vienna Bleeding Biobank cohort. Bleeding severity was recorded with the Vicenza bleeding score (BS). Blood group O was overrepresented in 422 patients with BUC compared with its presence in 23 145 healthy blood donors (47.2% vs 37.6%; odds ratio, 1.48; 95% confidence interval [CI], 1.22-1.79). The BS and the number of bleeding symptoms were significantly higher in patients with blood group O than in patients with non-O after adjustment for VWF and FVIII levels and sex (least-square [LS] means of BSs: 6.2; 95% CI, 5.8-6.6 vs 5.3; 4.9-5.7; and of number of symptoms: LS, 3.5; 95% CI, 3.2-3.7 vs 3.0; 2.8-3.2, respectively). Oral mucosal bleeding was more frequent in those with blood group O than in those with other blood types (group non-O; 26.1% vs 14.3%), independent of sex and VWF and FVIII levels, whereas other bleeding symptoms did not differ. Patients with blood group O had increased clot density in comparison with those with blood group non-O, as determined by rotational thromboelastometry and turbidimetric measurement of plasma clot formation. There were no differences in thrombin generation, clot lysis, or platelet function. Our data indicate that blood group O is a risk factor for increased bleeding and bleeding severity in patients with BUC, independent of VWF and FVIII levels.

show abstract

Study of 18 functional hemostatic polymorphisms in mucocutaneous bleeding disorders

Cited by 3 publications

References 35 publications

Relationship between ABO Blood Group and Hemorrhage: A Systematic Literature Review and Meta-Analysis

Relationship between ABO Blood Group and Hemorrhage: A Systematic Literature Review and Meta-Analysis

Exome sequencing study revealed novel susceptibility loci in subarachnoid hemorrhage (SAH)

Association of ABO blood group with bleeding severity in patients with bleeding of unknown cause

Contact Info

Product

Resources

About