TY - JOUR
T1 - Enhanced APOE2 transmission rates in families with autistic probands
AU - Persico, A. M.
AU - D'Agruma, L.
AU - Zelante, L.
AU - Militerni, R.
AU - Bravaccio, C.
AU - Schneider, C.
AU - Melmed, R.
AU - Trillo, S.
AU - Montecchi, F.
AU - Elia, M.
AU - Palermo, M.
AU - Rabinowitz, D.
AU - Pascucci, T.
AU - Puglisi-Allegra, S.
AU - Reichelt, K. L.
AU - Muscarella, L.
AU - Guarnieri, V.
AU - Melgari, J. M.
AU - Conciatori, M.
AU - Keller, F.
PY - 2004/6
Y1 - 2004/6
N2 - 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
AB - 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
KW - APOE
KW - APOE receptor 2
KW - Autism
KW - Pervasive developmental disorders
KW - Reelin
KW - Transmission/disequilibrium test
KW - Very-low-density lipoprotein receptor
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U2 - 10.1097/01.ypg.0000128768.37838.17
DO - 10.1097/01.ypg.0000128768.37838.17
M3 - Article
C2 - 15167692
AN - SCOPUS:2942635766
VL - 14
SP - 73
EP - 82
JO - Psychiatric Genetics
JF - Psychiatric Genetics
SN - 0955-8829
IS - 2
ER -