Abstract
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 language | English |
|---|---|
| Pages (from-to) | 73-82 |
| Number of pages | 10 |
| Journal | Psychiatric Genetics |
| Volume | 14 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Jun 2004 |
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Keywords
- 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)
Cite this
Enhanced APOE2 transmission rates in families with autistic probands. / Persico, A. M.; D'Agruma, L.; Zelante, L.; Militerni, R.; Bravaccio, C.; Schneider, C.; Melmed, R.; Trillo, S.; Montecchi, F.; Elia, M.; Palermo, M.; Rabinowitz, D.; Pascucci, T.; Puglisi-Allegra, S.; Reichelt, K. L.; Muscarella, L.; Guarnieri, V.; Melgari, J. M.; Conciatori, M.; Keller, F.
In: Psychiatric Genetics, Vol. 14, No. 2, 06.2004, p. 73-82.Research output: Contribution to journal › Article
}
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
UR - http://www.scopus.com/inward/record.url?scp=2942635766&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=2942635766&partnerID=8YFLogxK
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 -