Ερευνητικό υλικό ΕΚΠΑ

A genome-wide scan for common alleles affecting risk for autism

Αγγλικά

Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 3 10-28. When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10-28 threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C. © The Author 2010. Published by Oxford University Press. All rights reserved.

2010

Anney, R.
Klei, L.
Pinto, D.
Regan, R.
Conroy, J.
Magalhaes, T.R.
Correia, C.
Abrahams, B.S.
Sykes, N.
Pagnamenta, A.T.
Almeida, J.
Bacchelli, E.
Bailey, A.J.
Baird, G.
Battaglia, A.
Berney, T.
Bolshakova, N.
Bölte, S.
Bolton, P.F.
Bourgeron, T.
Brennan, S.
Brian, J.
Carson, A.R.
Casallo, G.
Casey, J.
Chu, S.H.
Cochrane, L.
Corsello, C.
Crawford, E.L.
Crossett, A.
Dawson, G.
de Jonge, M.
Delorme, R.
Drmic, I.
Duketis, E.
Duque, F.
Estes, A.
Farrar, P.
Fernandez, B.A.
Folstein, S.E.
Fombonne, E.
Freitag, C.M.
Gilbert, J.
Gillberg, C.
Glessner, J.T.
Goldberg, J.
Green, J.
Guter, S.J.
Hakonarson, H.
Heron, E.A.
Hill, M.
Holt, R.
Howe, J.L.
Hughes, G.
Hus, V.
Igliozzi, R.
Kim, C.
Klauck, S.M.
Kolevzon, A.
Korvatska, O.
Kustanovich, V.
Lajonchere, C.M.
Lamb, J.A.
Laskawiec, M.
Leboyer, M.
Le Couteur, A.
Leventhal, B.L.
Lionel, A.C.
Liu, X.-Q.
Lord, C.
Lotspeich, L.
Lund, S.C.
Maestrini, E.
Mahoney, W.
Mantoulan, C.
Marshall, C.R.
McConachie, H.
McDougle, C.J.
McGrath, J.
McMahon, W.M.
Melhem, N.M.
Merikangas, A.
Migita, O.
Minshew, N.J.
Mirza, G.K.
Munson, J.
Nelson, S.F.
Noakes, C.
Noor, A.
Nygren, G.
Oliveira, G.
Papanikolaou, K.
Parr, J.R.
Parrini, B.
Paton, T.
Pickles, A.
Piven, J.
Posey, D.J.
Poustka, A.
Poustka, F.
Prasad, A.
Ragoussis, J.
Renshaw, K.
Rickaby, J.
Roberts, W.
Roeder, K.
Roge, B.
Rutter, M.L.
Bierut, L.J.
Rice, J.P.
Salt, J.
Sansom, K.
Sato, D.
Segurado, R.
Senman, L.
Shah, N.
Sheffield, V.C.
Soorya, L.
Sousa, I.
Stoppioni, V.
Strawbridge, C.
Tancredi, R.
Tansey, K.
Thiruvahindrapduram, B.
Thompson, A.P.
Thomson, S.
Tryfon, A.
Tsiantis, J.
van Engeland, H.
Vincent, J.B.
Volkmar, F.
Wallace, S.
Wang, K.
Wang, Z.
Wassink, T.H.
Wing, K.
Wittemeyer, K.
Wood, S.
Yaspan, B.L.
Zurawiecki, D.
Zwaigenbaum, L.
Betancur, C.
Buxbaum, J.D.
Cantor, R.M.
Cook, E.H.
Coon, H.
Cuccaro, M.L.
Gallagher, L.
Geschwind, D.H.
Gill, M.
Haines, J.L.
Miller, J.
Monaco, A.P.
Nurnberger Jr., J.I.
Paterson, A.D.
Pericak-Vance, M.A.
Schellenberg, G.D.
Scherer, S.W.
Sutcliffe, J.S.
Szatmari, P.
Vicente, A.M.
Vieland, V.J.
Wijsman, E.M.
Devlin, B.
Ennis, S.
Hallmayer, J.

Human Molecular Genetics

Oxford University Press

19

20

4072-4082

allele; article; autism; gene frequency; gene replication; genetic analysis; genetic association; genetic risk; genetic variability; genotype; human; major clinical study; priority journal; single nucleotide polymorphism

https://doi.org/10.1093/hmg/ddq307

10.1093/hmg/ddq307

https://pergamos.lib.uoa.gr/uoa/dl/object/3089067