Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin

Andrew D. Paterson, Maria F. Lopes-Virella, Daryl Waggott, Andrew P. Boright, S. Mohsen Hosseini, Rickey E. Carter, Enqing Shen, Lucia Mirea, Bhupinder Bharaj, Lei Sun, Shelley B. Bull

Research output: Contribution to journalArticlepeer-review

134 Scopus citations


BACKGROUND-: Elevated serum soluble E-selectin levels have been associated with a number of diseases. Although E-selectin levels are heritable, little is known about the specific genetic factors involved. E-selectin levels have been associated with the ABO blood group phenotype. METHODS AND RESULTS-: We performed a high-resolution genome-wide association study of serum soluble E-selectin levels in 685 white individuals with type 1 diabetes from the Diabetes Control and Complications Trial (DCCT)/Epidemiology of Diabetes Intervention and Complications (EDIC) study to identify major loci influencing levels. Highly significant evidence for association (P=10) was observed for rs579459 near the ABO blood group gene, accounting for 19% of the variance in E-selectin levels. Levels of E-selectin were higher in O/O than O/A heterozygotes, which were likewise higher than A/A genotypes. Analysis of subgroups of A alleles reveals heterogeneity in the association, and even after this was accounted for, an intron 1 SNP remained significantly associated. We replicate the ABO association in nondiabetic individuals. CONCLUSION-: ABO is a major locus for serum soluble E-selectin levels. We excluded population stratification, fine-mapped the association to sub-A alleles, and also document association with additional variation in the ABO region.

Original languageEnglish (US)
Pages (from-to)1958-1967
Number of pages10
JournalArteriosclerosis, thrombosis, and vascular biology
Issue number11
StatePublished - Nov 2009


  • ABO blood group
  • E-selectin
  • Genome-wide association
  • SNP

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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