The missing ApoE allele

Davide Seripa, M. G. Matera, A. Daniele, A. Bizzarro, M. Rinaldi, C. Gravina, L. Bisceglia, R. M. Corbo, F. Panza, V. Solfrizzi, V. M. Fazio, G. Dal Forno, C. Masullo, B. Dallapiccola, A. Pilotto

Research output: Contribution to journalArticlepeer-review


The human apoE gene (APOE, GenBank accession AF261279) shows a common polymorphism, with the three ε2, ε3 and ε4 alleles resulting from the haplotypes of two C→T SNPs. However, whereas the three common T-T, T-C and C-C haplotypes corresponding to the ε2, ε3 and ε4 alleles are well known, the last C-T haplotype (GenBank accession AY077451), encoding a fourth apoE allele, has rarely been reported. We detected this fourth allele in a Caucasian patient with motor neuron disease (MND). According to the literature we refer to this allele as ε3r. Although several explanations may be proposed for its formation, the existence of this fourth allele is consistent with the evolutionary hypothesis generally accepted for the apoE alleles. The rarity and physiological role of ε3r remains to be explained, and requires further investigation.

Original languageEnglish
Pages (from-to)496-500
Number of pages5
JournalAnnals of Human Genetics
Issue number4
Publication statusPublished - Jul 2007


  • Allele
  • apoE
  • apoE1
  • apoE3r
  • Haplotype

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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