The missing ApoE allele

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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

15 Citazioni (Scopus)


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. © 2007 The Authors Journal compilation © 2007 University College London.
Lingua originaleEnglish
pagine (da-a)496-500
Numero di pagine5
RivistaAnnals of Human Genetics
Stato di pubblicazionePubblicato - 2007


  • Aged
  • Allele
  • Alleles
  • Apolipoprotein E2
  • Apolipoprotein E3
  • Apolipoprotein E4
  • Apolipoproteins E
  • Genotype
  • Haplotype
  • Humans
  • Male
  • Motor Neuron Disease
  • Sequence Analysis, DNA
  • apoE
  • apoE1
  • apoE3r
  • y


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