Enhanced APOE2 transmission rates in families with autistic probands

A. M. Persico, L. D'Agruma, L. Zelante, R. Militerni, C. Bravaccio, C. Schneider, R. Melmed, S. Trillo, F. Montecchi, M. Elia, M. Palermo, D. Rabinowitz, T. Pascucci, S. Puglisi-Allegra, K. L. Reichelt, L. Muscarella, V. Guarnieri, J. M. Melgari, M. Conciatori, F. Keller

Research output: Contribution to journalArticlepeer-review


We have previously described linkage/association between reelin gene polymorphisms and autistic disorder. APOE also participates in the Reelin signaling pathway, by competitively antagonizing Reelin binding to APOE receptor 2 and to very-low-density lipoprotein receptors. The APOE2 protein variant displays the lowest receptor binding affinity compared with APOE3 and APOE4. In this study, we assess linkage/association between primary autism and APOE alleles in 223 complete trios, from 119 simplex Italian families and 44 simplex and 29 multiplex Caucasian-American families. Statistically significant disequilibrium favors the transmission of ε2 alleles to autistic offspring, over ε3 and ε4 (allele-wise transmission/ disequilibrium test [TDT], χ2 = 6.16, 2 degrees of freedom [d.f.], P2 = 10.68, 3 d.f., P2 = 1.83, 2 d.f., P

Original languageEnglish
Pages (from-to)73-82
Number of pages10
JournalPsychiatric Genetics
Issue number2
Publication statusPublished - Jun 2004


  • APOE
  • APOE receptor 2
  • Autism
  • Pervasive developmental disorders
  • Reelin
  • Transmission/disequilibrium test
  • Very-low-density lipoprotein receptor

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Genetics
  • Neuroscience(all)


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