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- Individual common variants exert weak effects on the risk for autism spectrum disorders (2012)
- 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 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 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 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
- 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.
- A genome-wide scan for common alleles affecting risk for autism (2010)
- Richard Anney Lambertus Klei Dalila Pinto Regina Regan Judith Conroy Tiago R. Magalhaes Catarina Correia Brett S. Abrahams Nuala Sykes Alistair T. Pagnamenta Joana Almeida Elena Bacchelli Anthony J. Bailey Gillian Baird Agatino Battaglia Tom Berney Nadia Bolshakova Sven Bölte Patrick F. Bolton Thomas Bourgeron Sean Brennan Jessica Brian Andrew R. Carson Guillermo Casallo Jillian Casey Su H. Chu Lynne Cochrane Christina Corsello Emily L. Crawford Andrew Crossett Geraldine Dawson Maretha de Jonge Richard Delorme Irene Drmic Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A. Fernandez Susan E. Folstein Eric Fombonne Christine M. Freitag John Gilbert Christopher Gillberg Joseph T. Glessner Jeremy Goldberg Jonathan Green Stephen J. Guter Hakon Hakonarson Elizabeth A. Heron Matthew Hill Richard Holt Jennifer L. Howe Gillian Hughes Vanessa Hus Roberta Igliozzi Cecilia Kim Sabine M. Klauck Alexander Kolevzon Olena Korvatska Vlad Kustanovich Clara M. Lajonchere Janine A. Lamb Magdalena Laskawiec Marion Leboyer Ann Le Couteur Bennett L. Leventhal Anath C. Lionel Xiao-Qing Liu Catherine Lord Linda Lotspeich Sabata C. Lund Elena Maestrini William Mahoney Carine Mantoulan Christian R. Marshall Helen McConachie Christopher J. McDougle Jane McGrath William M. McMahon Nadine M. Melhem Alison Merikangas Ohsuke Migita Nancy J. Minshew Ghazala K. Mirza Jeff Munson Stanley F. Nelson Carolyn Noakes Abdul Noor Gudrun Nygren Guiomar Oliveira Katerina Papanikolaou Jeremy R. Parr Barbara Parrini Tara Paton Andrew Pickles Joseph Piven David J. Posey Annemarie Poustka Fritz Poustka Aparna Prasad Jiannis Ragoussis Katy Renshaw Jessica Rickaby Wendy Roberts Kathryn Roeder Bernadette Roge Michael L. Rutter Laura J. Bierut John P. Rice Jeff Salt Katherine Sansom Daisuke Sato Ricardo Segurado Lili Senman Naisha Shah Val C. Sheffield Latha Soorya Ines Sousa Vera Stoppioni Christina Strawbridge Raffaella Tancredi Katherine Tansey Bhooma Thiruvahindrapduram Ann P. Thompson Susanne Thomson Ana Tryfon John Tsiantis Herman Van Engeland John B. Vincent Fred Volkmar Simon Wallace Kai Wang Zhouzhi Wang Thomas H. Wassink Kirsty Wing Kerstin Wittemeyer Shawn Wood Brian L. Yaspan Danielle Zurawieck Lonnie Zwaigenbaum Catalina Betancur Joseph D. Buxbaum Rita M. Cantor Edwin H. Cook Hilary Coon Michael L. Cuccaro Louise Gallagher Daniel H. Geschwind Michael Gill Jonathan L. Haines Judith Miller Anthony P. Monaco John I. Jr. Nurnberger Andrew D. Paterson Margaret A. Pericak-Vance Gerard D. Schellenberg Stephen W. Scherer James S. Sutcliffe Peter Szatmari Astrid M. Vicente Veronica J. Vieland Ellen M. Wijsman Bernie Devlin Sean Ennis Joachim Hallmayer
- 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 3 10 exp -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 3 10 exp -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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