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Individual common variants exert weak effects on the risk for autism spectrum disorders

Human Molecular Genetics2012Vol. 21(21), pp. 4781–4792

Citations Over TimeTop 1% of 2012 papers

Richard Anney, Lambertus Klei, Dalila Pinto, Joana Almeida, Elena Bacchelli, Gillian Baird, Nadia Bolshakova, Sven Bölte, Patrick Bolton, Thomas Bourgeron, S. Brennan, Jessica Brian, Jillian P. Casey, Judith Conroy, Catarina Correia, Christina Corsello, Emily L. Crawford, Maretha Jonge, Richard Delorme, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Susan E. Folstein, Éric Fombonne, John R. Gilbert, Christopher Gillberg, Joseph Glessner, Andrew Green, Jonathan Green, Stephen J. Guter, Elizabeth A. Heron, Richard Holt, Jennifer Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Suma Jacob, Graham P. Kenny, Cecilia Kim, Alexander Kolevzon, Vlad Kustanovich, Clara Lajonchere, Janine A. Lamb, Miriam Law Smith, Marion Leboyer, Ann Le Couteur, Bennett Leventhal, Xiaoqing Liu, Frances Lombard, Catherine Lord, Linda Lotspeich, Sabata C. Lund, Tiago R. Magalhães, Carine Mantoulan, Christopher J. McDougle, Nadine Melhem, Alison Merikangas, Nancy J. Minshew, Ghazala Mirza, Jeff Munson, Carolyn Noakes, Gudrun Nygren, Κaterina Papanikolaou, Alistair T. Pagnamenta, Barbara Parrini, Tara Paton, Andrew Pickles, David J. Posey, Fritz Poustka, Jiannis Ragoussis, Regina Regan, Wendy Roberts, Kathryn Roeder, Bernadette Rogé, Michael Rutter, Sabine Schlitt, Naisha Shah, Val C. Sheffield, Latha Soorya, Inês Sousa, Vera Stoppioni, Nuala Sykes, Raffaella Tancredi, Ann Thompson, Susanne Thomson, Ana Tryfon, John Tsiantis, Hermán van Engeland, John B. Vincent, Fred R. Volkmar, JAS Vorstman, Simon Wallace, Kirsty Wing, Kerstin Wittemeyer, Shawn Wood, Danielle Zurawiecki, Lonnie Zwaigenbaum, Anthony Bailey, Agatino Battaglia, Rita M. Cantor, Hilary Coon, Michael L. Cuccaro, Géraldine 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. Nürnberger, Guiomar Oliveira, Jeremy 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, Péter Szatmári, Veronica J. Vieland, Håkon Håkonarson, Bernie Devlin

Abstract

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 for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. In contrast, allele scores derived from the transmission of common alleles to Stage 1 cases significantly predict case status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele score results, it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.

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