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

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Fältnamn	Indikatorer	Metadata
000		08184naa a2201933 4500
001		oai:gup.ub.gu.se/160896
003		SwePub
008		240910s2012 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://gup.ub.gu.se/publication/1608962 URI
024	7	a https://doi.org/10.1093/hmg/dds3012 DOI
040		a (SwePub)gu
041		a eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Anney, Richard4 aut
245	1 0	a Individual common variants exert weak effects on the risk for autism spectrum disorders.
264		c 2012-07-26
264	1	b Oxford University Press (OUP),c 2012
520		a While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASD), the contribution of common variation to ASD risk 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 association of individual SNPs, we also sought evidence that common variants, en masse, might affect 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. By 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 ASD risk but their individual effects are modest.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Psykiatri0 (SwePub)302152 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Psychiatry0 (SwePub)302152 hsv//eng
700	1	a Klei, Lambertus4 aut
700	1	a Pinto, Dalila4 aut
700	1	a Almeida, Joana4 aut
700	1	a Bacchelli, Elena4 aut
700	1	a Baird, Gillian4 aut
700	1	a Bolshakova, Nadia4 aut
700	1	a Bölte, Sven4 aut
700	1	a Bolton, Patrick F.4 aut
700	1	a Bourgeron, Thomas4 aut
700	1	a Brennan, Sean4 aut
700	1	a Brian, Jessica4 aut
700	1	a Casey, Jillian4 aut
700	1	a Conroy, Judith4 aut
700	1	a Correia, Catarina4 aut
700	1	a Corsello, Christina4 aut
700	1	a Crawford, Emily L4 aut
700	1	a de Jonge, Maretha4 aut
700	1	a Delorme, Richard4 aut
700	1	a Duketis, Eftichia4 aut
700	1	a Duque, Frederico4 aut
700	1	a Estes, Annette4 aut
700	1	a Farrar, Penny4 aut
700	1	a Fernandez, Bridget A4 aut
700	1	a Folstein, Susan E4 aut
700	1	a Fombonne, Eric4 aut
700	1	a Gilbert, John4 aut
700	1	a Gillberg, Christopher,d 1950u Gothenburg University,Göteborgs universitet,Gillbergcentrum,Gillberg Neuropsychiatry Centre4 aut0 (Swepub:gu)xgilch
700	1	a Glessner, Joseph T4 aut
700	1	a Green, Andrew4 aut
700	1	a Green, Jonathan4 aut
700	1	a Guter, Stephen J4 aut
700	1	a Heron, Elizabeth A4 aut
700	1	a Holt, Richard4 aut
700	1	a Howe, Jennifer L4 aut
700	1	a Hughes, Gillian4 aut
700	1	a Hus, Vanessa4 aut
700	1	a Igliozzi, Roberta4 aut
700	1	a Jacob, Suma4 aut
700	1	a Kenny, Graham P4 aut
700	1	a Kim, Cecilia4 aut
700	1	a Kolevzon, Alexander4 aut
700	1	a Kustanovich, Vlad4 aut
700	1	a Lajonchere, Clara M4 aut
700	1	a Lamb, Janine A4 aut
700	1	a Law-Smith, Miriam4 aut
700	1	a Leboyer, Marion4 aut
700	1	a Le Couteur, Ann4 aut
700	1	a Leventhal, Bennett L4 aut
700	1	a Liu, Xiao-Qing4 aut
700	1	a Lombard, Frances4 aut
700	1	a Lord, Catherine4 aut
700	1	a Lotspeich, Linda4 aut
700	1	a Lund, Sabata C4 aut
700	1	a Magalhaes, Tiago R4 aut
700	1	a Mantoulan, Carine4 aut
700	1	a McDougle, Christopher J4 aut
700	1	a Melhem, Nadine M4 aut
700	1	a Merikangas, Alison4 aut
700	1	a Minshew, Nancy J4 aut
700	1	a Mirza, Ghazala K4 aut
700	1	a Munson, Jeff4 aut
700	1	a Noakes, Carolyn4 aut
700	1	a Nygren, Gudrun,d 1957u Gothenburg University,Göteborgs universitet,Gillbergcentrum,Gillberg Neuropsychiatry Centre4 aut0 (Swepub:gu)xnygrg
700	1	a Papanikolaou, Katerina4 aut
700	1	a Pagnamenta, Alistair T4 aut
700	1	a Parrini, Barbara4 aut
700	1	a Paton, Tara4 aut
700	1	a Pickles, Andrew4 aut
700	1	a Posey, David J4 aut
700	1	a Poustka, Fritz4 aut
700	1	a Ragoussis, Jiannis4 aut
700	1	a Regan, Regina4 aut
700	1	a Renshaw, Katy4 aut
700	1	a Roberts, Wendy4 aut
700	1	a Roeder, Kathryn4 aut
700	1	a Roge, Bernadette4 aut
700	1	a Rutter, Michael L4 aut
700	1	a Schlitt, Sabine4 aut
700	1	a Shah, Naisha4 aut
700	1	a Sheffield, Val C4 aut
700	1	a Soorya, Latha4 aut
700	1	a Sousa, Inês4 aut
700	1	a Stoppioni, Vera4 aut
700	1	a Sykes, Nuala4 aut
700	1	a Tancredi, Raffaella4 aut
700	1	a Thompson, Ann P4 aut
700	1	a Thomson, Susanne4 aut
700	1	a Tryfon, Ana4 aut
700	1	a Tsiantis, John4 aut
700	1	a Van Engeland, Herman4 aut
700	1	a Vincent, John B4 aut
700	1	a Vorstman, Jas4 aut
700	1	a Volkmar, Fred4 aut
700	1	a Wallace, Simon4 aut
700	1	a Wing, Kirsty4 aut
700	1	a Wood, Shawn4 aut
700	1	a Wittemeyer, Kerstin4 aut
700	1	a Zurawiecki, Danielle4 aut
700	1	a Zwaigenbaum, Lonnie4 aut
700	1	a Bailey, Anthony J4 aut
700	1	a Battaglia, Agatino4 aut
700	1	a Cantor, Rita M4 aut
700	1	a Coon, Hilary4 aut
700	1	a Cuccaro, Michael L4 aut
700	1	a Dawson, Geraldine4 aut
700	1	a Ennis, Sean4 aut
700	1	a Freitag, Christine M4 aut
700	1	a Geschwind, Daniel H4 aut
700	1	a Haines, Jonathan L4 aut
700	1	a Klauck, Sabine M4 aut
700	1	a McMahon, William M4 aut
700	1	a Maestrini, Elena4 aut
700	1	a Miller, Judith4 aut
700	1	a Monaco, Anthony P4 aut
700	1	a Nelson, Stanley F4 aut
700	1	a Nurnberger, John I4 aut
700	1	a Oliveira, Guiomar4 aut
700	1	a Parr, Jeremy R4 aut
700	1	a Pericak-Vance, Margaret A4 aut
700	1	a Piven, Joseph4 aut
700	1	a Schellenberg, Gerard D4 aut
700	1	a Scherer, Stephen W4 aut
700	1	a Vicente, Astrid M4 aut
700	1	a Wassink, Thomas H4 aut
700	1	a Wijsman, Ellen M4 aut
700	1	a Betancur, Catalina4 aut
700	1	a Buxbaum, Joseph D4 aut
700	1	a Cook, Edwin H4 aut
700	1	a Gallagher, Louise4 aut
700	1	a Gill, Michael4 aut
700	1	a Hallmayer, Joachim4 aut
700	1	a Paterson, Andrew D4 aut
700	1	a Sutcliffe, James S4 aut
700	1	a Szatmari, Peter4 aut
700	1	a Vieland, Veronica J4 aut
700	1	a Hakonarson, Hakon4 aut
700	1	a Devlin, Bernie4 aut
710	2	a Göteborgs universitetb Gillbergcentrum4 org
773	0	t Human Molecular Geneticsd : Oxford University Press (OUP)g 21:21, s. 4781-92q 21:21<4781-92x 0964-6906x 1460-2083
856	4	u https://academic.oup.com/hmg/article-pdf/21/21/4781/17256651/dds301.pdf
856	4 8	u https://gup.ub.gu.se/publication/160896
856	4 8	u https://doi.org/10.1093/hmg/dds301

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Av författaren/redakt...: Anney, Richard; Klei, Lambertus; Pinto, Dalila; Almeida, Joana; Bacchelli, Elena; Baird, Gillian; visa fler...; Bolshakova, Nadi ...; Bölte, Sven; Bolton, Patrick ...; Bourgeron, Thoma ...; Brennan, Sean; Brian, Jessica; Casey, Jillian; Conroy, Judith; Correia, Catarin ...; Corsello, Christ ...; Crawford, Emily ...; de Jonge, Mareth ...; Delorme, Richard; Duketis, Eftichi ...; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridg ...; Folstein, Susan ...; Fombonne, Eric; Gilbert, John; Gillberg, Christ ...; Glessner, Joseph ...; Green, Andrew; Green, Jonathan; Guter, Stephen J; Heron, Elizabeth ...; Holt, Richard; Howe, Jennifer L; Hughes, Gillian; Hus, Vanessa; Igliozzi, Robert ...; Jacob, Suma; Kenny, Graham P; Kim, Cecilia; Kolevzon, Alexan ...; Kustanovich, Vla ...; Lajonchere, Clar ...; Lamb, Janine A; Law-Smith, Miria ...; Leboyer, Marion; Le Couteur, Ann; Leventhal, Benne ...; Liu, Xiao-Qing; Lombard, Frances; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C; Magalhaes, Tiago ...; Mantoulan, Carin ...; McDougle, Christ ...; Melhem, Nadine M; Merikangas, Alis ...; Minshew, Nancy J; Mirza, Ghazala K; Munson, Jeff; Noakes, Carolyn; Nygren, Gudrun, ...; Papanikolaou, Ka ...; Pagnamenta, Alis ...; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Posey, David J; Poustka, Fritz; Ragoussis, Jiann ...; Regan, Regina; Renshaw, Katy; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael ...; Schlitt, Sabine; Shah, Naisha; Sheffield, Val C; Soorya, Latha; Sousa, Inês; Stoppioni, Vera; Sykes, Nuala; Tancredi, Raffae ...; Thompson, Ann P; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, He ...; Vincent, John B; Vorstman, Jas; Volkmar, Fred; Wallace, Simon; Wing, Kirsty; Wood, Shawn; Wittemeyer, Kers ...; Zurawiecki, Dani ...; Zwaigenbaum, Lon ...; Bailey, Anthony ...; Battaglia, Agati ...; Cantor, Rita M; Coon, Hilary; Cuccaro, Michael ...; Dawson, Geraldin ...; Ennis, Sean; Freitag, Christi ...; Geschwind, Danie ...; Haines, Jonathan ...; Klauck, Sabine M; McMahon, William ...; Maestrini, Elena; Miller, Judith; Monaco, Anthony ...; Nelson, Stanley ...; Nurnberger, John ...; Oliveira, Guioma ...; Parr, Jeremy R; Pericak-Vance, M ...; Piven, Joseph; Schellenberg, Ge ...; Scherer, Stephen ...; Vicente, Astrid ...; Wassink, Thomas ...; Wijsman, Ellen M; Betancur, Catali ...; Buxbaum, Joseph ...; Cook, Edwin H; Gallagher, Louis ...; Gill, Michael; Hallmayer, Joach ...; Paterson, Andrew ...; Sutcliffe, James ...; Szatmari, Peter; Vieland, Veronic ...; Hakonarson, Hako ...; Devlin, Bernie; visa färre...

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