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ABO blood group is a cardiovascular risk factor in patients with familial hypercholesterolemia
Martine Paquette1, Robert Dufour2, Alexis Baass3
1Nutrition, Metabolism and Atherosclerosis Clinic, Institut de recherches cliniques de Montréal, Québec, Canada.
Insights
Individuals with non-O blood groups have double the risk of cardiovascular disease (CVD) in familial hypercholesterolemia (FH) patients. This finding highlights ABO blood type as a novel CVD risk factor in FH, aiding in patient risk stratification.
Area of Science:
- Genetics and cardiovascular medicine
- Atherosclerosis research
- Monogenic disease epidemiology
Background:
- Observational studies link ABO blood groups to cardiovascular disease (CVD).
- Familial hypercholesterolemia (FH) accelerates atherosclerotic plaque development.
- The impact of ABO blood group on CVD risk in FH patients remains unstudied.
Purpose of the Study:
- To investigate the association between ABO blood group and CVD risk in patients with FH.
- To determine if ABO blood type serves as an independent risk factor for CVD in FH.
Main Methods:
- Included 668 adult subjects with heterozygous FH-causing mutations in the LDLR gene.
- Determined ABO blood group using single-nucleotide polymorphisms (rs8176719 and rs8176746) in the ABO gene.
- Analyzed CVD prevalence and events in relation to ABO blood groups, adjusting for cardiovascular risk factors.
Main Results:
- Non-O blood group subjects had significantly higher total cholesterol levels compared to O group carriers.
- A higher proportion of non-O blood group individuals were observed in patients with CVD (73.4%) versus those without (63.3%).
- The non-O blood group was independently associated with a 2.14-fold increased prevalence of CVD (P=.005) and more CVD events per individual (P=.008).
Conclusions:
- Non-O blood groups are linked to an independent, twofold increased risk of CVD in FH patients.
- ABO blood group emerges as a novel CVD risk factor in FH.
- ABO blood type can potentially be used for enhanced CVD risk stratification in FH populations.
Background:
The ABO blood group has been associated with cardiovascular disease (CVD) in observational studies. However, the effect of ABO blood group has never been studied in subjects affected by familial hypercholesterolemia (FH), a severe monogenic disease characterized by accelerated atherosclerotic plaque development.
Objective:
Our aim is to investigate the effect of the ABO blood group on CVD risk in FH patients.
Methods:
A total of 668 adult subjects with a heterozygous FH-causing mutation in the low density lipoprotein receptor (LDLR) gene were included in the present study. ABO blood group was determined using 2 functional single-nucleotide polymorphisms in the ABO gene (rs8176719 and rs8176746).
Results:
Total cholesterol was significantly higher in non-O subjects compared to carriers of the O group (9.48 vs 9.14 mmol/L, P = .02). We observed a greater proportion of subjects carrying the non-O groups (73.4%) in patients with CVD compared to subjects without CVD (63.3%). In a regression model corrected for cardiovascular risk factors, the non-O group was significantly associated with an increased prevalence of CVD (odds ratio = 2.14, 95% confidence interval = 1.25-3.65, P = .005). In average, patients in the non-O blood group experienced more CVD events (0.88 per individual) than those in the O group (0.60 per individual), P = .008.
Conclusion:
Carrying a non-O blood group is associated with an independent twofold increased risk of CVD in FH patients. The ABO blood group represents a novel CVD risk factor in FH subjects that is often known by the patient and could be used to further stratify CVD risk in this population of patients.
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