Genomics

Dataset Information

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Autism Genome Project (AGP) Consortium - Whole Genome Association and Copy Number Variation Study of over 1,500 Parent-Offspring Trios - Stage I


ABSTRACT:

Autism spectrum disorders (ASDs) are highly heritable (~90%), yet the underlying genetic determinants are largely unknown. To understand the genetic and phenotypic heterogeneity in ASDs, we analyzed over 1,500 strictly defined ASD families with over 1,000,000 single nucleotide polymorphisms (SNPs), and applied multiple analytical strategies to examine these families for SNPs and Copy Number Variation (CNVs) affecting risk for ASDs. Secondary analyses examined associations in more homogenous subgroups. Furthermore, the use of large control datasets permitted contrasting case and control samples and addressed the potential increased burden of rare CNVs in ASD. Our data have allowed us to discern key features of the ASD genomic architecture, find new susceptibility loci, and chart a course for future studies in ASDs.

ORGANISM(S): Homo sapiens  

PROVIDER: phs000267.v1.p1 | EGA |

REPOSITORIES: EGA

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Publications

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

Anney Richard R   Klei Lambertus L   Pinto Dalila D   Almeida Joana J   Bacchelli Elena E   Baird Gillian G   Bolshakova Nadia N   Bölte Sven S   Bolton Patrick F PF   Bourgeron Thomas T   Brennan Sean S   Brian Jessica J   Casey Jillian J   Conroy Judith J   Correia Catarina C   Corsello Christina C   Crawford Emily L EL   de Jonge Maretha M   Delorme Richard R   Duketis Eftichia E   Duque Frederico F   Estes Annette A   Farrar Penny P   Fernandez Bridget A BA   Folstein Susan E SE   Fombonne Eric E   Gilbert John J   Gillberg Christopher C   Glessner Joseph T JT   Green Andrew A   Green Jonathan J   Guter Stephen J SJ   Heron Elizabeth A EA   Holt Richard R   Howe Jennifer L JL   Hughes Gillian G   Hus Vanessa V   Igliozzi Roberta R   Jacob Suma S   Kenny Graham P GP   Kim Cecilia C   Kolevzon Alexander A   Kustanovich Vlad V   Lajonchere Clara M CM   Lamb Janine A JA   Law-Smith Miriam M   Leboyer Marion M   Le Couteur Ann A   Leventhal Bennett L BL   Liu Xiao-Qing XQ   Lombard Frances F   Lord Catherine C   Lotspeich Linda L   Lund Sabata C SC   Magalhaes Tiago R TR   Mantoulan Carine C   McDougle Christopher J CJ   Melhem Nadine M NM   Merikangas Alison A   Minshew Nancy J NJ   Mirza Ghazala K GK   Munson Jeff J   Noakes Carolyn C   Nygren Gudrun G   Papanikolaou Katerina K   Pagnamenta Alistair T AT   Parrini Barbara B   Paton Tara T   Pickles Andrew A   Posey David J DJ   Poustka Fritz F   Ragoussis Jiannis J   Regan Regina R   Roberts Wendy W   Roeder Kathryn K   Roge Bernadette B   Rutter Michael L ML   Schlitt Sabine S   Shah Naisha N   Sheffield Val C VC   Soorya Latha L   Sousa Inês I   Stoppioni Vera V   Sykes Nuala N   Tancredi Raffaella R   Thompson Ann P AP   Thomson Susanne S   Tryfon Ana A   Tsiantis John J   Van Engeland Herman H   Vincent John B JB   Volkmar Fred F   Vorstman J A S JA   Wallace Simon S   Wing Kirsty K   Wittemeyer Kerstin K   Wood Shawn S   Zurawiecki Danielle D   Zwaigenbaum Lonnie L   Bailey Anthony J AJ   Battaglia Agatino A   Cantor Rita M RM   Coon Hilary H   Cuccaro Michael L ML   Dawson Geraldine G   Ennis Sean S   Freitag Christine M CM   Geschwind Daniel H DH   Haines Jonathan L JL   Klauck Sabine M SM   McMahon William M WM   Maestrini Elena E   Miller Judith J   Monaco Anthony P AP   Nelson Stanley F SF   Nurnberger John I JI   Oliveira Guiomar G   Oliveira Guiomar G   Parr Jeremy R JR   Pericak-Vance Margaret A MA   Piven Joseph J   Schellenberg Gerard D GD   Scherer Stephen W SW   Vicente Astrid M AM   Wassink Thomas H TH   Wijsman Ellen M EM   Betancur Catalina C   Buxbaum Joseph D JD   Cook Edwin H EH   Gallagher Louise L   Gill Michael M   Hallmayer Joachim J   Paterson Andrew D AD   Sutcliffe James S JS   Szatmari Peter P   Vieland Veronica J VJ   Hakonarson Hakon H   Devlin Bernie B  

Human molecular genetics 20120726 21


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  ...[more]

Publication: 1/5

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