Pleiotropy of ABO gene: correlation of rs644234 with E-selectin and lipid levels

Clin Chem Lab Med. 2018 Apr 25;56(5):748-754. doi: 10.1515/cclm-2017-0347.


Background: The ABO gene has been widely studied and associated with many different diseases such as myocardial infarction and diabetes. Pleiotropic effects of the ABO locus have been demonstrated. Indeed it affects different phenotypes such as E- and P-selectins, triglycerides and total cholesterol. The goal of this work was to study the SNP rs644234 located in the ABO gene with different phenotypes related with diseases where the ABO gene has been involved.

Methods: We analyzed the SNP rs644234 located in the ABO gene, by performing association studies with different lipid phenotypes as well as with the soluble E-selectin levels in 348 adults from the STANISLAS Family Study.

Results: The major rs644234*T allele was associated with increased levels of soluble E-selectin (p=8.7×10-12). According to the lipid phenotypes, the major rs644234*T allele was associated with decreased levels of apolipoproteins E (ApoE) (p=0.001) and low-density lipoprotein cholesterol (LDL-C) (p=0.032) but was associated with increased levels of high-density lipoprotein cholesterol (HDL-C) (p=0.013). The association of the HDL-C was especially significant in the male individuals (p=0.001).

Conclusions: We confirmed that ABO is a major locus for serum soluble E-selectin levels variability, and we also correlated this gene with different lipid phenotypes. Furthermore, we demonstrated that this pleiotropic effect is independent. This is the first time that a correlation has been made between the ABO gene and the ApoE levels. According to these results, the major allele of this polymorphism may have a protective effect when it comes to cardiovascular related diseases, and more specifically when it comes to the lipid phenotypes.

Keywords: apolipoproteins E (ApoE); cardiovascular diseases; high-density lipoprotein cholesterol (HDL-C); soluble E-selectin.

MeSH terms

  • ABO Blood-Group System / blood
  • ABO Blood-Group System / genetics*
  • Adult
  • E-Selectin / blood
  • E-Selectin / genetics*
  • Female
  • Genotype
  • Humans
  • Lipids / blood
  • Lipids / genetics*
  • Male
  • Phenotype
  • Polymorphism, Genetic / genetics


  • ABO Blood-Group System
  • E-Selectin
  • Lipids
  • SELE protein, human