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Article Dans Une Revue Human Molecular Genetics Année : 2010

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 R. Magalhaes (5, 6) , Catarina Correia (5, 6) , Brett S. Abrahams (7) , Nuala Sykes (8) , Alistair T. Pagnamenta (8) , Joana Almeida (9) , Elena Bacchelli (10) , Anthony J. Bailey (11) , Gillian Baird (12) , Agatino Battaglia (13) , Tom Berney (14) , Nadia Bolshakova (1) , Sven Bölte (15) , Patrick F. Bolton (16) , Thomas Bourgeron (17) , Sean Brennan (1) , Jessica Brian (18) , Andrew R. Carson (3) , Guillermo Casallo (3) , Jillian Casey (4) , Su H. Chu (2) , Lynne Cochrane (1) , Christina Corsello (19) , Emily L. 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 A. Fernandez (27) , Susan E. Folstein (28) , Eric Fombonne (29) , Christine M. Freitag (15) , John Gilbert (28) , Christopher Gillberg (30) , Joseph T. Glessner (31) , Jeremy Goldberg (32) , Jonathan Green (33) , Stephen J. Guter (34) , Hakon Hakonarson (31, 35) , Elizabeth A. Heron (1) , Matthew Hill (1) , Richard Holt (8) , Jennifer L. Howe (3) , Gillian Hughes (1) , Vanessa Hus (19) , Roberta Igliozzi (13) , Cecilia Kim (31) , Sabine M. Klauck (36) , Alexander Kolevzon (37) , Olena Korvatska (38) , Vlad Kustanovich (39) , Clara M. Lajonchere (39) , Janine A. Lamb (40) , Magdalena Laskawiec (2) , Marion Leboyer (41, 42) , Ann Le Couteur (14) , Bennett L. Leventhal (43, 44) , Anath C. Lionel (3) , Xiao-Qing Liu (3) , Catherine Lord (19) , Linda Lotspeich (13) , Sabata C. Lund (20) , Elena Maestrini (10) , William Mahoney (45) , Carine Mantoulan (46) , Christian R. Marshall (3) , Helen Mcconachie (14) , Christopher J. Mcdougle (47) , Jane Mcgrath (1) , William M. Mcmahon (48) , Nadine M. Melhem (2) , Alison Merikangas (1) , Ohsuke Migita (3) , Nancy J. Minshew (49) , Ghazala K. Mirza (8) , Jeff Munson (50) , Stanley F. Nelson (51) , Carolyn Noakes (18) , Abdul Noor (52) , Gudrun Nygren (30) , Guiomar Oliveira (9) , Katerina Papanikolaou (53) , Jeremy R. Parr (54) , Barbara Parrini (13) , Tara Paton (3) , Andrew Pickles (55) , Joseph Piven (56) , David J. Posey (47) , 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 (46) , Michael L. Rutter (57) , Laura J. Bierut (58) , John P. Rice (58) , Jeff Salt (2) , Katherine Sansom (3) , Daisuke Sato (3) , Ricardo Segurado (1) , Lili Senman (18) , Naisha Shah (4) , Val C. Sheffield (59) , Latha Soorya (37) , Inês Sousa (8) , Vera Stoppioni (60) , Christina Strawbridge (32) , Raffaella Tancredi (13) , Katherine Tansey (1) , Bhooma Thiruvahindrapduram (3) , Ann P. Thompson (32) , Susanne Thomson (20) , Ana Tryfon (37) , John Tsiantis (53) , Herman van Engeland (24) , John B. Vincent (52) , Fred Volkmar (61) , Simon Wallace (2) , Kai Wang (31) , Zhouzhi Wang (3) , Thomas H. Wassink (62) , Kirsty Wing (8) , Kerstin Wittemeyer (46) , Shawn Wood (2) , Brian L. Yaspan (20) , Danielle M. Zurawiecki (37) , Lonnie Zwaigenbaum (63) , Catalina Betancur (64) , Joseph D. Buxbaum (37) , Rita M. Cantor (51) , Edwin H. Cook (34) , Hilary Coon (48) , Michael L. Cuccaro (28) , Louise Gallagher (1) , Daniel H. Geschwind (7) , Michael Gill (1) , Jonathan L. Haines (65) , Judith Miller (48) , Anthony P. Monaco (8) , John I. Nurnberger (47) , Andrew D. Paterson (3) , Margaret A. Pericak-Vance (28) , Gerard D. Schellenberg (66) , Stephen W. Scherer (3) , James S. Sutcliffe (20) , Peter Szatmari (2) , Astrid M. Vicente (5, 6) , Veronica J. Vieland (67) , Ellen M. Wijsman (68) , Bernie Devlin (2) , Sean Ennis (4) , Joachim Hallmayer (13)
1 Division of Mental Health and Addiction
2 Department of Psychiatry [Pittsburgh]
3 Program in Genetics and Genomic Biology
4 ACoRD - Academic Centre on Rare Diseases
5 INSA - Instituto Nacional de Saùde Dr Ricardo Jorge [Portugal]
6 BioFIG
7 Department of Neurology
8 The Wellcome Trust Centre for Human Genetics [Oxford]
9 UNDA - Unidade de Neurodesenvolvimento e Autismo
10 Department of Pharmacy and Biotechnology
11 Department of Psychiatry
12 Newcomen Centre
13 Department of Psychiatry and Behavioral Sciences [Stanford]
14 Child and Adolescent Mental Health
15 Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
16 Department of Child and Adolescent Psychiatry
17 Génétique Humaine et Fonctions Cognitives
18 Autism Research Unit
19 Autism and Communicative Disorders Centre
20 Department of Molecular Physiology & Biophysics and Psychiatry
21 Department of Statistics
22 Scientific Affairs
23 Department of Psychiatry
24 Department of Psychiatry
25 Service de psychopathologie de l'enfant et de l'adolescent
26 Department of Speech and Hearing Sciences [Washington]
27 Disciplines of Genetics and Medicine
28 John P. Hussman Institute for Human Genomics
29 Department of Child Psychiatry
30 Department of Child and Adolescent Psychiatry
31 The Center for Applied Genomics
32 Department of Psychiatry and Behavioural Neurosciences
33 Manchester Academic Health Sciences Centre
34 Department of Psychiatry
35 Department of Pediatrics
36 Division of Molecular Genome Analysis
37 Human Genetics Center
38 Department of Medicine
39 Autism Genetic Resource Exchange
40 Centre for Integrated Genomic Medical Research, Manchester
41 IUH - Institut Universitaire d'Hématologie
42 IMRB - Institut Mondor de Recherche Biomédicale
43 NKI - Nathan Kline Institute for Psychiatric Research
44 Department of Child and Adolescent Psychiatry
45 Department of Pediatrics
46 Centre d'Etudes et de Recherches en PsychoPathologie
47 Department of Psychiatry
48 Department of Developmental Neuroscience
49 Departments of Psychiatry and Neurology
50 Department of Psychiatry and Behavioral Sciences
51 Department of Human Genetics, Los Angeles
52 Centre for Addiction and Mental Health
53 University Department of Child Psychiatry
54 Institutes of Neuroscience and Health and Society
55 Department of Medicine, Manchester
56 Carolina Institute for Developmental Disabilities
57 Social, Genetic and Developmental Psychiatry Centre
58 Department of Psychiatry
59 Department of Pediatrics
60 Neuropsichiatria Infantile
61 Child Study Centre
62 Department of Psychiatry
63 Department of Pediatrics
64 Physiopathologie des Maladies du Système Nerveux Central
65 Vanderbilt Brain Institute
66 Pathology and Laboratory Medicine
67 Battelle Center for Mathematical Medicine
68 Departments of Biostatistics and Medicine
Gillian Baird
  • Fonction : Auteur
Irene Drmic
  • Fonction : Auteur
Matthew Hill
Lili Senman
  • Fonction : Auteur
Ana Tryfon
  • Fonction : Auteur
Fred Volkmar
  • Fonction : Auteur
Kai Wang

Résumé

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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Dates et versions

inserm-00521391 , version 1 (28-09-2010)

Identifiants

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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, 2010, 19 (20), pp.4072-82. ⟨10.1093/hmg/ddq307⟩. ⟨inserm-00521391⟩
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