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

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Anney, Richard (author)

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

Article/chapterEnglish2010

Publisher, publication year, extent ...

2010-07-27
Oxford University Press (OUP),2010

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LIBRIS-ID:oai:gup.ub.gu.se/145116
https://gup.ub.gu.se/publication/145116URI
https://doi.org/10.1093/hmg/ddq307DOI

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Language:English

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

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.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Psykiatri hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Psychiatry hsv//eng
Alleles
Autistic Disorder
Genetics
DNA Copy Number Variations
Databases
Genetic
European Continental Ancestry Group
Genetics
Genetic Predisposition to Disease
Genetic Variation
Genome
Human
Genome-Wide Association Study
Genotype
Humans
Polymorphism
Single Nucleotide
Risk Factors

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Klei, Lambertus (author)
Pinto, Dalila (author)
Regan, Regina (author)
Conroy, Judith (author)
Magalhaes, Tiago R (author)
Correia, Catarina (author)
Abrahams, Brett S (author)
Sykes, Nuala (author)
Pagnamenta, Alistair T (author)
Almeida, Joana (author)
Bacchelli, Elena (author)
Bailey, Anthony J (author)
Baird, Gillian (author)
Battaglia, Agatino (author)
Berney, Tom (author)
Bolshakova, Nadia (author)
Bölte, Sven (author)
Bolton, Patrick F. (author)
Bourgeron, Thomas (author)
Brennan, Sean (author)
Brian, Jessica (author)
Carson, Andrew R (author)
Casallo, Guillermo (author)
Casey, Jillian (author)
Chu, Su H (author)
Cochrane, Lynne (author)
Corsello, Christina (author)
Crawford, Emily L (author)
Crossett, Andrew (author)
Dawson, Geraldine (author)
de Jonge, Maretha (author)
Delorme, Richard (author)
Drmic, Irene (author)
Duketis, Eftichia (author)
Duque, Frederico (author)
Estes, Annette (author)
Farrar, Penny (author)
Fernandez, Bridget A (author)
Folstein, Susan E (author)
Fombonne, Eric (author)
Freitag, Christine M (author)
Gilbert, John (author)
Gillberg, Christopher,1950Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry(Swepub:gu)xgilch (author)
Glessner, Joseph T (author)
Goldberg, Jeremy (author)
Green, Jonathan (author)
Guter, Stephen J (author)
Hakonarson, Hakon (author)
Heron, Elizabeth A (author)
Hill, Matthew (author)
Holt, Richard (author)
Howe, Jennifer L (author)
Hughes, Gillian (author)
Hus, Vanessa (author)
Igliozzi, Roberta (author)
Kim, Cecilia (author)
Klauck, Sabine M (author)
Kolevzon, Alexander (author)
Korvatska, Olena (author)
Kustanovich, Vlad (author)
Lajonchere, Clara M (author)
Lamb, Janine A (author)
Laskawiec, Magdalena (author)
Leboyer, Marion (author)
Le Couteur, Ann (author)
Leventhal, Bennett L (author)
Lionel, Anath C (author)
Liu, Xiao-Qing (author)
Lord, Catherine (author)
Lotspeich, Linda (author)
Lund, Sabata C (author)
Maestrini, Elena (author)
Mahoney, William (author)
Mantoulan, Carine (author)
Marshall, Christian R (author)
McConachie, Helen (author)
McDougle, Christopher J (author)
McGrath, Jane (author)
McMahon, William M (author)
Melhem, Nadine M (author)
Merikangas, Alison (author)
Migita, Ohsuke (author)
Minshew, Nancy J (author)
Mirza, Ghazala K (author)
Munson, Jeff (author)
Nelson, Stanley F (author)
Noakes, Carolyn (author)
Noor, Abdul (author)
Nygren, Gudrun,1957Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry(Swepub:gu)xnygrg (author)
Oliveira, Guiomar (author)
Papanikolaou, Katerina (author)
Parr, Jeremy R (author)
Parrini, Barbara (author)
Paton, Tara (author)
Pickles, Andrew (author)
Piven, Joseph (author)
Posey, David J (author)
Poustka, Annemarie (author)
Poustka, Fritz (author)
Prasad, Aparna (author)
Ragoussis, Jiannis (author)
Renshaw, Katy (author)
Rickaby, Jessica (author)
Roberts, Wendy (author)
Roeder, Kathryn (author)
Roge, Bernadette (author)
Rutter, Michael L (author)
Bierut, Laura J (author)
Rice, John P (author)
Salt, Jeff (author)
Sansom, Katherine (author)
Sato, Daisuke (author)
Segurado, Ricardo (author)
Senman, Lili (author)
Shah, Naisha (author)
Sheffield, Val C (author)
Soorya, Latha (author)
Sousa, Inês (author)
Stoppioni, Vera (author)
Strawbridge, Christina (author)
Tancredi, Raffaella (author)
Tansey, Katherine (author)
Thiruvahindrapduram, Bhooma (author)
Thompson, Ann P (author)
Thomson, Susanne (author)
Tryfon, Ana (author)
Tsiantis, John (author)
Van Engeland, Herman (author)
Vincent, John B (author)
Volkmar, Fred (author)
Wallace, Simon (author)
Wang, Kai (author)
Wang, Zhouzhi (author)
Wassink, Thomas H (author)
Wing, Kirsty (author)
Wittemeyer, Kerstin (author)
Wood, Shawn (author)
Yaspan, Brian L (author)
Zurawiecki, Danielle (author)
Zwaigenbaum, Lonnie (author)
Betancur, Catalina (author)
Buxbaum, Joseph D (author)
Cantor, Rita M (author)
Cook, Edwin H (author)
Coon, Hilary (author)
Cuccaro, Michael L (author)
Gallagher, Louise (author)
Geschwind, Daniel H (author)
Gill, Michael (author)
Haines, Jonathan L (author)
Miller, Judith (author)
Monaco, Anthony P (author)
Nurnberger, John I (author)
Paterson, Andrew D (author)
Pericak-Vance, Margaret A (author)
Schellenberg, Gerard D (author)
Scherer, Stephen W (author)
Sutcliffe, James S (author)
Szatmari, Peter (author)
Vicente, Astrid M (author)
Vieland, Veronica J (author)
Wijsman, Ellen M (author)
Devlin, Bernie (author)
Ennis, Sean (author)
Hallmayer, Joachim (author)
Göteborgs universitetInstitutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi (creator_code:org_t)

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In:Human Molecular Genetics: Oxford University Press (OUP)19:20, s. 4072-40820964-69061460-2083

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By the author/editor: Anney, Richard; Klei, Lambertus; Pinto, Dalila; Regan, Regina; Conroy, Judith; Magalhaes, Tiago ...; show more...; Correia, Catarin ...; Abrahams, Brett ...; Sykes, Nuala; Pagnamenta, Alis ...; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony ...; Baird, Gillian; Battaglia, Agati ...; Berney, Tom; Bolshakova, Nadi ...; Bölte, Sven; Bolton, Patrick ...; Bourgeron, Thoma ...; Brennan, Sean; Brian, Jessica; Carson, Andrew R; Casallo, Guiller ...; Casey, Jillian; Chu, Su H; Cochrane, Lynne; Corsello, Christ ...; Crawford, Emily ...; Crossett, Andrew; Dawson, Geraldin ...; de Jonge, Mareth ...; Delorme, Richard; Drmic, Irene; Duketis, Eftichi ...; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridg ...; Folstein, Susan ...; Fombonne, Eric; Freitag, Christi ...; Gilbert, John; Gillberg, Christ ...; Glessner, Joseph ...; Goldberg, Jeremy; Green, Jonathan; Guter, Stephen J; Hakonarson, Hako ...; Heron, Elizabeth ...; Hill, Matthew; Holt, Richard; Howe, Jennifer L; Hughes, Gillian; Hus, Vanessa; Igliozzi, Robert ...; Kim, Cecilia; Klauck, Sabine M; Kolevzon, Alexan ...; Korvatska, Olena; Kustanovich, Vla ...; Lajonchere, Clar ...; Lamb, Janine A; Laskawiec, Magda ...; Leboyer, Marion; Le Couteur, Ann; Leventhal, Benne ...; Lionel, Anath C; Liu, Xiao-Qing; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C; Maestrini, Elena; Mahoney, William; Mantoulan, Carin ...; Marshall, Christ ...; McConachie, Hele ...; McDougle, Christ ...; McGrath, Jane; McMahon, William ...; Melhem, Nadine M; Merikangas, Alis ...; Migita, Ohsuke; Minshew, Nancy J; Mirza, Ghazala K; Munson, Jeff; Nelson, Stanley ...; Noakes, Carolyn; Noor, Abdul; Nygren, Gudrun, ...; Oliveira, Guioma ...; Papanikolaou, Ka ...; Parr, Jeremy R; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Piven, Joseph; Posey, David J; Poustka, Annemar ...; Poustka, Fritz; Prasad, Aparna; Ragoussis, Jiann ...; Renshaw, Katy; Rickaby, Jessica; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael ...; Bierut, Laura J; Rice, John P; Salt, Jeff; Sansom, Katherin ...; Sato, Daisuke; Segurado, Ricard ...; Senman, Lili; Shah, Naisha; Sheffield, Val C; Soorya, Latha; Sousa, Inês; Stoppioni, Vera; Strawbridge, Chr ...; Tancredi, Raffae ...; Tansey, Katherin ...; Thiruvahindrapdu ...; Thompson, Ann P; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, He ...; Vincent, John B; Volkmar, Fred; Wallace, Simon; Wang, Kai; Wang, Zhouzhi; Wassink, Thomas ...; Wing, Kirsty; Wittemeyer, Kers ...; Wood, Shawn; Yaspan, Brian L; Zurawiecki, Dani ...; Zwaigenbaum, Lon ...; Betancur, Catali ...; Buxbaum, Joseph ...; Cantor, Rita M; Cook, Edwin H; Coon, Hilary; Cuccaro, Michael ...; Gallagher, Louis ...; Geschwind, Danie ...; Gill, Michael; Haines, Jonathan ...; Miller, Judith; Monaco, Anthony ...; Nurnberger, John ...; Paterson, Andrew ...; Pericak-Vance, M ...; Schellenberg, Ge ...; Scherer, Stephen ...; Sutcliffe, James ...; Szatmari, Peter; Vicente, Astrid ...; Vieland, Veronic ...; Wijsman, Ellen M; Devlin, Bernie; Ennis, Sean; Hallmayer, Joach ...; show less...

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