Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in
Stela McLachlan1, Claudia Giambartolomei2, Jon White3
1Centre for Population Health Sciences, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, United Kingdom.
Plos One
|June 10, 2016
Summary
This study identified genetic loci associated with red blood cell traits in Europeans. Findings highlight the ABO gene
Area of Science:
- Genetics
- Hematology
- Human genetics
Background:
- Red blood cell (RBC) traits are crucial clinical health markers.
- Genetic factors contribute to variations in RBC traits among healthy individuals.
- Understanding genetic loci for RBC traits is vital for health and disease research.
Purpose of the Study:
- To perform a meta-analysis of association results for six RBC traits in Europeans.
- To identify and characterize genetic loci influencing RBC traits.
- To investigate the association between ABO gene variants and RBC traits, and their cardiometabolic implications.
Main Methods:
- Meta-analysis of Metabochip association data from 11,093 Europeans (UCLEB Consortium).
- Genome-wide association study (GWAS) for six RBC traits: Hb, Hct, MCH, MCHC, MCV, and RCC.
- Imputation to 1000 Genomes and replication in an independent cohort for ABO SNP associations.
Main Results:
- Identified 394 SNPs in five loci (6p22.1-6p21.33, 6q23.2, 6q23.3, 9q34.3, 22q13.1) at genome-wide significance.
- Replicated and extended previous findings for RBC trait associations at these loci.
- Confirmed independent associations of ABO SNPs with Hb, Hct, and RCC, with a role for blood group O.
- Demonstrated association of top ABO SNPs with five cardiometabolic traits, suggesting pleiotropic effects.
Conclusions:
- The study identified significant genetic loci influencing RBC traits in Europeans.
- The ABO gene plays a key role in RBC trait variation and is associated with cardiometabolic traits.
- Further research into the pleiotropic mechanisms of ABO is warranted to understand cardiometabolic risk.
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