A genome-wide scan for common alleles affecting risk for autism.

Hdl Handle:
http://hdl.handle.net/10147/124463
Title:
A genome-wide scan for common alleles affecting risk for autism.
Authors:
Anney, Richard; Klei, 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.
Citation:
A genome-wide scan for common alleles affecting risk for autism. 2010, 19 (20):4072-82 Hum. Mol. Genet.
Journal:
Human molecular genetics
Issue Date:
15-Oct-2010
URI:
http://hdl.handle.net/10147/124463
DOI:
10.1093/hmg/ddq307
PubMed ID:
20663923
Abstract:
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:
Article
Language:
en
MeSH:
Alleles; Autistic 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
ISSN:
1460-2083

Full metadata record

DC FieldValue Language
dc.contributor.authorAnney, Richarden
dc.contributor.authorKlei, Lambertusen
dc.contributor.authorPinto, Dalilaen
dc.contributor.authorRegan, Reginaen
dc.contributor.authorConroy, Judithen
dc.contributor.authorMagalhaes, Tiago Ren
dc.contributor.authorCorreia, Catarinaen
dc.contributor.authorAbrahams, Brett Sen
dc.contributor.authorSykes, Nualaen
dc.contributor.authorPagnamenta, Alistair Ten
dc.contributor.authorAlmeida, Joanaen
dc.contributor.authorBacchelli, Elenaen
dc.contributor.authorBailey, Anthony Jen
dc.contributor.authorBaird, Gillianen
dc.contributor.authorBattaglia, Agatinoen
dc.contributor.authorBerney, Tomen
dc.contributor.authorBolshakova, Nadiaen
dc.contributor.authorBölte, Svenen
dc.contributor.authorBolton, Patrick Fen
dc.contributor.authorBourgeron, Thomasen
dc.contributor.authorBrennan, Seanen
dc.contributor.authorBrian, Jessicaen
dc.contributor.authorCarson, Andrew Ren
dc.contributor.authorCasallo, Guillermoen
dc.contributor.authorCasey, Jillianen
dc.contributor.authorChu, Su Hen
dc.contributor.authorCochrane, Lynneen
dc.contributor.authorCorsello, Christinaen
dc.contributor.authorCrawford, Emily Len
dc.contributor.authorCrossett, Andrewen
dc.contributor.authorDawson, Geraldineen
dc.contributor.authorde Jonge, Marethaen
dc.contributor.authorDelorme, Richarden
dc.contributor.authorDrmic, Ireneen
dc.contributor.authorDuketis, Eftichiaen
dc.contributor.authorDuque, Fredericoen
dc.contributor.authorEstes, Annetteen
dc.contributor.authorFarrar, Pennyen
dc.contributor.authorFernandez, Bridget Aen
dc.contributor.authorFolstein, Susan Een
dc.contributor.authorFombonne, Ericen
dc.contributor.authorFreitag, Christine Men
dc.contributor.authorGilbert, Johnen
dc.contributor.authorGillberg, Christopheren
dc.contributor.authorGlessner, Joseph Ten
dc.contributor.authorGoldberg, Jeremyen
dc.contributor.authorGreen, Jonathanen
dc.contributor.authorGuter, Stephen Jen
dc.contributor.authorHakonarson, Hakonen
dc.contributor.authorHeron, Elizabeth Aen
dc.contributor.authorHill, Matthewen
dc.contributor.authorHolt, Richarden
dc.contributor.authorHowe, Jennifer Len
dc.contributor.authorHughes, Gillianen
dc.contributor.authorHus, Vanessaen
dc.contributor.authorIgliozzi, Robertaen
dc.contributor.authorKim, Ceciliaen
dc.contributor.authorKlauck, Sabine Men
dc.contributor.authorKolevzon, Alexanderen
dc.contributor.authorKorvatska, Olenaen
dc.contributor.authorKustanovich, Vladen
dc.contributor.authorLajonchere, Clara Men
dc.contributor.authorLamb, Janine Aen
dc.contributor.authorLaskawiec, Magdalenaen
dc.contributor.authorLeboyer, Marionen
dc.contributor.authorLe Couteur, Annen
dc.contributor.authorLeventhal, Bennett Len
dc.contributor.authorLionel, Anath Cen
dc.contributor.authorLiu, Xiao-Qingen
dc.contributor.authorLord, Catherineen
dc.contributor.authorLotspeich, Lindaen
dc.contributor.authorLund, Sabata Cen
dc.contributor.authorMaestrini, Elenaen
dc.contributor.authorMahoney, Williamen
dc.contributor.authorMantoulan, Carineen
dc.contributor.authorMarshall, Christian Ren
dc.contributor.authorMcConachie, Helenen
dc.contributor.authorMcDougle, Christopher Jen
dc.contributor.authorMcGrath, Janeen
dc.contributor.authorMcMahon, William Men
dc.contributor.authorMelhem, Nadine Men
dc.contributor.authorMerikangas, Alisonen
dc.contributor.authorMigita, Ohsukeen
dc.contributor.authorMinshew, Nancy Jen
dc.contributor.authorMirza, Ghazala Ken
dc.contributor.authorMunson, Jeffen
dc.contributor.authorNelson, Stanley Fen
dc.contributor.authorNoakes, Carolynen
dc.contributor.authorNoor, Abdulen
dc.contributor.authorNygren, Gudrunen
dc.contributor.authorOliveira, Guiomaren
dc.contributor.authorPapanikolaou, Katerinaen
dc.contributor.authorParr, Jeremy Ren
dc.contributor.authorParrini, Barbaraen
dc.contributor.authorPaton, Taraen
dc.contributor.authorPickles, Andrewen
dc.contributor.authorPiven, Josephen
dc.contributor.authorPosey, David Jen
dc.contributor.authorPoustka, Annemarieen
dc.contributor.authorPoustka, Fritzen
dc.contributor.authorPrasad, Aparnaen
dc.contributor.authorRagoussis, Jiannisen
dc.contributor.authorRenshaw, Katyen
dc.contributor.authorRickaby, Jessicaen
dc.contributor.authorRoberts, Wendyen
dc.contributor.authorRoeder, Kathrynen
dc.contributor.authorRoge, Bernadetteen
dc.contributor.authorRutter, Michael Len
dc.contributor.authorBierut, Laura Jen
dc.contributor.authorRice, John Pen
dc.contributor.authorSalt, Jeffen
dc.contributor.authorSansom, Katherineen
dc.contributor.authorSato, Daisukeen
dc.contributor.authorSegurado, Ricardoen
dc.contributor.authorSenman, Lilien
dc.contributor.authorShah, Naishaen
dc.contributor.authorSheffield, Val Cen
dc.contributor.authorSoorya, Lathaen
dc.contributor.authorSousa, Inêsen
dc.contributor.authorStoppioni, Veraen
dc.contributor.authorStrawbridge, Christinaen
dc.contributor.authorTancredi, Raffaellaen
dc.contributor.authorTansey, Katherineen
dc.contributor.authorThiruvahindrapduram, Bhoomaen
dc.contributor.authorThompson, Ann Pen
dc.contributor.authorThomson, Susanneen
dc.contributor.authorTryfon, Anaen
dc.contributor.authorTsiantis, Johnen
dc.contributor.authorVan Engeland, Hermanen
dc.contributor.authorVincent, John Ben
dc.contributor.authorVolkmar, Freden
dc.contributor.authorWallace, Simonen
dc.contributor.authorWang, Kaien
dc.contributor.authorWang, Zhouzhien
dc.contributor.authorWassink, Thomas Hen
dc.contributor.authorWing, Kirstyen
dc.contributor.authorWittemeyer, Kerstinen
dc.contributor.authorWood, Shawnen
dc.contributor.authorYaspan, Brian Len
dc.contributor.authorZurawiecki, Danielleen
dc.contributor.authorZwaigenbaum, Lonnieen
dc.contributor.authorBetancur, Catalinaen
dc.contributor.authorBuxbaum, Joseph Den
dc.contributor.authorCantor, Rita Men
dc.contributor.authorCook, Edwin Hen
dc.contributor.authorCoon, Hilaryen
dc.contributor.authorCuccaro, Michael Len
dc.contributor.authorGallagher, Louiseen
dc.contributor.authorGeschwind, Daniel Hen
dc.contributor.authorGill, Michaelen
dc.contributor.authorHaines, Jonathan Len
dc.contributor.authorMiller, Judithen
dc.contributor.authorMonaco, Anthony Pen
dc.contributor.authorNurnberger, John Ien
dc.contributor.authorPaterson, Andrew Den
dc.contributor.authorPericak-Vance, Margaret Aen
dc.contributor.authorSchellenberg, Gerard Den
dc.contributor.authorScherer, Stephen Wen
dc.contributor.authorSutcliffe, James Sen
dc.contributor.authorSzatmari, Peteren
dc.contributor.authorVicente, Astrid Men
dc.contributor.authorVieland, Veronica Jen
dc.contributor.authorWijsman, Ellen Men
dc.contributor.authorDevlin, Bernieen
dc.contributor.authorEnnis, Seanen
dc.contributor.authorHallmayer, Joachimen
dc.date.accessioned2011-03-14T12:09:23Z-
dc.date.available2011-03-14T12:09:23Z-
dc.date.issued2010-10-15-
dc.identifier.citationA genome-wide scan for common alleles affecting risk for autism. 2010, 19 (20):4072-82 Hum. Mol. Genet.en
dc.identifier.issn1460-2083-
dc.identifier.pmid20663923-
dc.identifier.doi10.1093/hmg/ddq307-
dc.identifier.urihttp://hdl.handle.net/10147/124463-
dc.description.abstractAlthough 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.-
dc.language.isoenen
dc.subject.meshAlleles-
dc.subject.meshAutistic Disorder-
dc.subject.meshDNA Copy Number Variations-
dc.subject.meshDatabases, Genetic-
dc.subject.meshEuropean Continental Ancestry Group-
dc.subject.meshGenetic Predisposition to Disease-
dc.subject.meshGenetic Variation-
dc.subject.meshGenome, Human-
dc.subject.meshGenome-Wide Association Study-
dc.subject.meshGenotype-
dc.subject.meshHumans-
dc.subject.meshPolymorphism, Single Nucleotide-
dc.subject.meshRisk Factors-
dc.titleA genome-wide scan for common alleles affecting risk for autism.en
dc.typeArticleen
dc.contributor.departmentDepartment of Psychiatry, School of Medicine, Trinity College, Dublin 8, Ireland.en
dc.identifier.journalHuman molecular geneticsen

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