Authors
Anney, RichardKlei, Lambertus
Pinto, Dalila
Regan, Regina
Conroy, Judith
Magalhaes, Tiago R
Correia, Catarina
Abrahams, Brett S
Sykes, Nuala
Pagnamenta, Alistair T
Almeida, Joana
Bacchelli, Elena
Bailey, Anthony J
Baird, Gillian
Battaglia, Agatino
Berney, Tom
Bolshakova, Nadia
Bölte, Sven
Bolton, Patrick F
Bourgeron, Thomas
Brennan, Sean
Brian, Jessica
Carson, Andrew R
Casallo, Guillermo
Casey, Jillian
Chu, Su H
Cochrane, Lynne
Corsello, Christina
Crawford, Emily L
Crossett, Andrew
Dawson, Geraldine
de Jonge, Maretha
Delorme, Richard
Drmic, Irene
Duketis, Eftichia
Duque, Frederico
Estes, Annette
Farrar, Penny
Fernandez, Bridget A
Folstein, Susan E
Fombonne, Eric
Freitag, Christine M
Gilbert, John
Gillberg, Christopher
Glessner, Joseph T
Goldberg, Jeremy
Green, Jonathan
Guter, Stephen J
Hakonarson, Hakon
Heron, Elizabeth A
Hill, Matthew
Holt, Richard
Howe, Jennifer L
Hughes, Gillian
Hus, Vanessa
Igliozzi, Roberta
Kim, Cecilia
Klauck, Sabine M
Kolevzon, Alexander
Korvatska, Olena
Kustanovich, Vlad
Lajonchere, Clara M
Lamb, Janine A
Laskawiec, Magdalena
Leboyer, Marion
Le Couteur, Ann
Leventhal, Bennett L
Lionel, Anath C
Liu, Xiao-Qing
Lord, Catherine
Lotspeich, Linda
Lund, Sabata C
Maestrini, Elena
Mahoney, William
Mantoulan, Carine
Marshall, Christian R
McConachie, Helen
McDougle, Christopher J
McGrath, Jane
McMahon, William M
Melhem, Nadine M
Merikangas, Alison
Migita, Ohsuke
Minshew, Nancy J
Mirza, Ghazala K
Munson, Jeff
Nelson, Stanley F
Noakes, Carolyn
Noor, Abdul
Nygren, Gudrun
Oliveira, Guiomar
Papanikolaou, Katerina
Parr, Jeremy R
Parrini, Barbara
Paton, Tara
Pickles, Andrew
Piven, Joseph
Posey, David J
Poustka, Annemarie
Poustka, Fritz
Prasad, Aparna
Ragoussis, Jiannis
Renshaw, Katy
Rickaby, Jessica
Roberts, Wendy
Roeder, Kathryn
Roge, Bernadette
Rutter, Michael L
Bierut, Laura J
Rice, John P
Salt, Jeff
Sansom, Katherine
Sato, Daisuke
Segurado, Ricardo
Senman, Lili
Shah, Naisha
Sheffield, Val C
Soorya, Latha
Sousa, Inês
Stoppioni, Vera
Strawbridge, Christina
Tancredi, Raffaella
Tansey, Katherine
Thiruvahindrapduram, Bhooma
Thompson, Ann P
Thomson, Susanne
Tryfon, Ana
Tsiantis, John
Van Engeland, Herman
Vincent, John B
Volkmar, Fred
Wallace, Simon
Wang, Kai
Wang, Zhouzhi
Wassink, Thomas H
Wing, Kirsty
Wittemeyer, Kerstin
Wood, Shawn
Yaspan, Brian L
Zurawiecki, Danielle
Zwaigenbaum, Lonnie
Betancur, Catalina
Buxbaum, Joseph D
Cantor, Rita M
Cook, Edwin H
Coon, Hilary
Cuccaro, Michael L
Gallagher, Louise
Geschwind, Daniel H
Gill, Michael
Haines, Jonathan L
Miller, Judith
Monaco, Anthony P
Nurnberger, John I
Paterson, Andrew D
Pericak-Vance, Margaret A
Schellenberg, Gerard D
Scherer, Stephen W
Sutcliffe, James S
Szatmari, Peter
Vicente, Astrid M
Vieland, Veronica J
Wijsman, Ellen M
Devlin, Bernie
Ennis, Sean
Hallmayer, Joachim
Affiliation
Department of Psychiatry, School of Medicine, Trinity College, Dublin 8, Ireland.Issue Date
2010-10-15MeSH
AllelesAutistic Disorder
DNA Copy Number Variations
Databases, Genetic
European Continental Ancestry Group
Genetic Predisposition to Disease
Genetic Variation
Genome, Human
Genome-Wide Association Study
Genotype
Humans
Polymorphism, Single Nucleotide
Risk Factors
Metadata
Show full item recordCitation
A genome-wide scan for common alleles affecting risk for autism. 2010, 19 (20):4072-82 Hum. Mol. Genet.Journal
Human molecular geneticsDOI
10.1093/hmg/ddq307PubMed ID
20663923Abstract
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.Item Type
ArticleLanguage
enISSN
1460-2083ae974a485f413a2113503eed53cd6c53
10.1093/hmg/ddq307
Scopus Count
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