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

Richard Anney 1 Lambertus Klei 2 Dalila Pinto 3 Regina Regan 4 Judith Conroy 4 Tiago Magalhaes 5, 6 Catarina Correia 5, 6 Brett Abrahams 7 Nuala Sykes 8 Alistair Pagnamenta 8 Joana Almeida 9 Elena Bacchelli 10 Anthony Bailey 11 Gillian Baird 12 Agatino Battaglia 13 Tom Berney 14 Nadia Bolshakova 1 Sven Bölte 15 Patrick Bolton 16 Thomas Bourgeron 17 Sean Brennan 1 Jessica Brian 18 Andrew Carson 3 Guillermo Casallo 3 Jillian Casey 4 Su Chu 2 Lynne Cochrane 1 Christina Corsello 19 Emily Crawford 20 Andrew Crossett 21 Geraldine Dawson 22, 23 Maretha De Jonge 24 Richard Delorme 25 Irene Drmic 18 Eftichia Duketis 15 Frederico Duque 9 Annette Estes 26 Penny Farrar 8 Bridget Fernandez 27 Susan Folstein 28 Eric Fombonne 29 Christine Freitag 15 John Gilbert 28 Christopher Gillberg 30 Joseph Glessner 31 Jeremy Goldberg 32 Jonathan Green 33 Stephen Guter 34 Hakon Hakonarson 31, 35 Elizabeth Heron 1 Matthew Hill 1 Richard Holt 8 Jennifer Howe 3 Gillian Hughes 1 Vanessa Hus 19 Roberta Igliozzi 13 Cecilia Kim 31 Sabine Klauck 36 Alexander Kolevzon 37 Olena Korvatska 38 Vlad Kustanovich 39 Clara Lajonchere 39 Janine Lamb 40 Magdalena Laskawiec 2 Marion Leboyer 41, 42 Ann Le Couteur 14 Bennett Leventhal 43, 44 Anath Lionel 3 Xiao-Qing Liu 3 Catherine Lord 19 Linda Lotspeich 45 Sabata Lund 20 Elena Maestrini 10 William Mahoney 46 Carine Mantoulan 47 Christian Marshall 3 Helen Mcconachie 14 Christopher Mcdougle 48 Jane Mcgrath 1 William Mcmahon 49 Nadine Melhem 2 Alison Merikangas 1 Ohsuke Migita 3 Nancy Minshew 50 Ghazala Mirza 8 Jeff Munson 51 Stanley Nelson 52 Carolyn Noakes 18 Abdul Noor 53 Gudrun Nygren 30 Guiomar Oliveira 9 Katerina Papanikolaou 54 Jeremy Parr 55 Barbara Parrini 13 Tara Paton 3 Andrew Pickles 56 Joseph Piven 57 David Posey 48 Annemarie Poustka 36 Fritz Poustka 15 Aparna Prasad 3 Jiannis Ragoussis 8 Katy Renshaw 2 Jessica Rickaby 3 Wendy Roberts 18 Kathryn Roeder 21 Bernadette Roge 47 Michael Rutter 58 Laura Bierut 59 John Rice 59 Jeff Salt 2 Katherine Sansom 3 Daisuke Sato 3 Ricardo Segurado 1 Lili Senman 18 Naisha Shah 4 Val Sheffield 60 Latha Soorya 37 Inês Sousa 8 Vera Stoppioni 61 Christina Strawbridge 32 Raffaella Tancredi 13 Katherine Tansey 1 Bhooma Thiruvahindrapduram 3 Ann Thompson 32 Susanne Thomson 20 Ana Tryfon 37 John Tsiantis 54 Herman Van Engeland 24 John Vincent 53 Fred Volkmar 62 Simon Wallace 2 Kai Wang 31 Zhouzhi Wang 3 Thomas Wassink 63 Kirsty Wing 8 Kerstin Wittemeyer 47 Shawn Wood 2 Brian Yaspan 20 Danielle Zurawiecki 37 Lonnie Zwaigenbaum 64 Catalina Betancur 65 Joseph Buxbaum 37 Rita Cantor 52 Edwin Cook 34 Hilary Coon 49 Michael Cuccaro 28 Louise Gallagher 1 Daniel Geschwind 7 Michael Gill 1 Jonathan Haines 66 Judith Miller 49 Anthony Monaco 8 John Nurnberger 48 Andrew Paterson 3 Margaret Pericak-Vance 28 Gerard Schellenberg 67 Stephen Scherer 3 James Sutcliffe 20 Peter Szatmari 2 Astrid Vicente 5, 6 Veronica Vieland 68 Ellen Wijsman 69 Bernie Devlin 2, * Sean Ennis 4 Joachim Hallmayer 45
* Auteur correspondant
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 × 10(-8). 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(-8) 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.
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Human Molecular Genetics, Oxford University Press (OUP), 2010, 19 (20), pp.4072-82. 〈10.1093/hmg/ddq307〉
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Richard Anney, Lambertus Klei, Dalila Pinto, Regina Regan, Judith Conroy, et al.. A genome-wide scan for common alleles affecting risk for autism.. Human Molecular Genetics, Oxford University Press (OUP), 2010, 19 (20), pp.4072-82. 〈10.1093/hmg/ddq307〉. 〈inserm-00521391〉

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