作者
Richard Anney, Lambertus Klei, Dalila Pinto, Joana Almeida, Elena Bacchelli, Gillian Baird, Nadia Bolshakova, Sven Bölte, Patrick F Bolton, Thomas Bourgeron, Sean Brennan, Jessica Brian, Jillian Casey, Judith Conroy, Catarina Correia, Christina Corsello, Emily L Crawford, Maretha De Jonge, Richard Delorme, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A Fernandez, Susan E Folstein, Eric Fombonne, John Gilbert, Christopher Gillberg, Joseph T Glessner, Andrew Green, Jonathan Green, Stephen J Guter, Elizabeth A Heron, Richard Holt, Jennifer L Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Suma Jacob, Graham P Kenny, Cecilia Kim, Alexander Kolevzon, Vlad Kustanovich, Clara M Lajonchere, Janine A Lamb, Miriam Law-Smith, Marion Leboyer, Ann Le Couteur, Bennett L Leventhal, Xiao-Qing Liu, Frances Lombard, Catherine Lord, Linda Lotspeich, Sabata C Lund, Tiago R Magalhaes, Carine Mantoulan, Christopher J McDougle, Nadine M Melhem, Alison Merikangas, Nancy J Minshew, Ghazala K Mirza, Jeff Munson, Carolyn Noakes, Gudrun Nygren, Katerina Papanikolaou, Alistair T Pagnamenta, Barbara Parrini, Tara Paton, Andrew Pickles, David J Posey, Fritz Poustka, Jiannis Ragoussis, Regina Regan, Wendy Roberts, Kathryn Roeder, Bernadette Roge, Michael L Rutter, Sabine Schlitt, Naisha Shah, Val C Sheffield, Latha Soorya, Inês Sousa, Vera Stoppioni, Nuala Sykes, Raffaella Tancredi, Ann P Thompson, Susanne Thomson, Ana Tryfon, John Tsiantis, Herman Van Engeland, John B Vincent, Fred Volkmar, JAS Vorstman, Simon Wallace, Kirsty Wing, Kerstin Wittemeyer, Shawn Wood, Danielle Zurawiecki, Lonnie Zwaigenbaum, Anthony J Bailey, Agatino Battaglia, Rita M Cantor, Hilary Coon, Michael L Cuccaro, Geraldine Dawson, Sean Ennis, Christine M Freitag, Daniel H Geschwind, Jonathan L Haines, Sabine M Klauck, William M McMahon, Elena Maestrini, Judith Miller, Anthony P Monaco, Stanley F Nelson, John I Nurnberger Jr, Guiomar Oliveira, Jeremy R Parr, Margaret A Pericak-Vance, Joseph Piven, Gerard D Schellenberg, Stephen W Scherer, Astrid M Vicente, Thomas H Wassink, Ellen M Wijsman, Catalina Betancur, Joseph D Buxbaum, Edwin H Cook, Louise Gallagher, Michael Gill, Joachim Hallmayer, Andrew D Paterson, James S Sutcliffe, Peter Szatmari, Veronica J Vieland, Hakon Hakonarson, Bernie Devlin
发表日期
2012/11/1
期刊
Human molecular genetics
卷号
21
期号
21
页码范围
4781-4792
出版商
Oxford University Press
简介
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest P-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility …
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R Anney, L Klei, D Pinto, J Almeida, E Bacchelli… - Human molecular genetics, 2012