@article{3089067,
    title = "A genome-wide scan for common alleles affecting risk for autism",
    author = "Anney, R. and Klei, L. and Pinto, D. and Regan, R. and Conroy, J. and Magalhaes, T.R. and Correia, C. and Abrahams, B.S. and Sykes, N. and Pagnamenta, A.T. and Almeida, J. and Bacchelli, E. and Bailey, A.J. and Baird, G. and Battaglia, A. and Berney, T. and Bolshakova, N. and Bölte, S. and Bolton, P.F. and Bourgeron, T. and Brennan, S. and Brian, J. and Carson, A.R. and Casallo, G. and Casey, J. and Chu, S.H. and Cochrane, L. and Corsello, C. and Crawford, E.L. and Crossett, A. and Dawson, G. and de Jonge, M. and Delorme, R. and Drmic, I. and Duketis, E. and Duque, F. and Estes, A. and Farrar, P. and Fernandez, B.A. and Folstein, S.E. and Fombonne, E. and Freitag, C.M. and Gilbert, J. and Gillberg, C. and Glessner, J.T. and Goldberg, J. and Green, J. and Guter, S.J. and Hakonarson, H. and Heron, E.A. and Hill, M. and Holt, R. and Howe, J.L. and Hughes, G. and Hus, V. and Igliozzi, R. and Kim, C. and Klauck, S.M. and Kolevzon, A. and Korvatska, O. and Kustanovich, V. and Lajonchere, C.M. and Lamb, J.A. and Laskawiec, M. and Leboyer, M. and Le Couteur, A. and Leventhal, B.L. and Lionel, A.C. and Liu, X.-Q. and Lord, C. and Lotspeich, L. and Lund, S.C. and Maestrini, E. and Mahoney, W. and Mantoulan, C. and Marshall, C.R. and McConachie, H. and McDougle, C.J. and McGrath, J. and McMahon, W.M. and Melhem, N.M. and Merikangas, A. and Migita, O. and Minshew, N.J. and Mirza, G.K. and Munson, J. and Nelson, S.F. and Noakes, C. and Noor, A. and Nygren, G. and Oliveira, G. and Papanikolaou, K. and Parr, J.R. and Parrini, B. and Paton, T. and Pickles, A. and Piven, J. and Posey, D.J. and Poustka, A. and Poustka, F. and Prasad, A. and Ragoussis, J. and Renshaw, K. and Rickaby, J. and Roberts, W. and Roeder, K. and Roge, B. and Rutter, M.L. and Bierut, L.J. and Rice, J.P. and Salt, J. and Sansom, K. and Sato, D. and Segurado, R. and Senman, L. and Shah, N. and Sheffield, V.C. and Soorya, L. and Sousa, I. and Stoppioni, V. and Strawbridge, C. and Tancredi, R. and Tansey, K. and Thiruvahindrapduram, B. and Thompson, A.P. and Thomson, S. and Tryfon, A. and Tsiantis, J. and van Engeland, H. and Vincent, J.B. and Volkmar, F. and Wallace, S. and Wang, K. and Wang, Z. and Wassink, T.H. and Wing, K. and Wittemeyer, K. and Wood, S. and Yaspan, B.L. and Zurawiecki, D. and Zwaigenbaum, L. and Betancur, C. and Buxbaum, J.D. and Cantor, R.M. and Cook, E.H. and Coon, H. and Cuccaro, M.L. and Gallagher, L. and Geschwind, D.H. and Gill, M. and Haines, J.L. and Miller, J. and Monaco, A.P. and Nurnberger Jr., J.I. and Paterson, A.D. and Pericak-Vance, M.A. and Schellenberg, G.D. and Scherer, S.W. and Sutcliffe, J.S. and Szatmari, P. and Vicente, A.M. and Vieland, V.J. and Wijsman, E.M. and Devlin, B. and Ennis, S. and Hallmayer, J.",
    journal = "Human Molecular Genetics",
    year = "2010",
    volume = "19",
    number = "20",
    pages = "4072-4082",
    publisher = "Oxford University Press",
    issn = "0964-6906, 1460-2083",
    doi = "10.1093/hmg/ddq307",
    keywords = "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",
    abstract = "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."
}