A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

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Fältnamn	Indikatorer	Metadata
000		08867naa a2202077 4500
001		oai:gup.ub.gu.se/147587
003		SwePub
008		240528s2012 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://gup.ub.gu.se/publication/1475872 URI
024	7	a https://doi.org/10.1007/s00439-011-1094-62 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 Casey, Jillian P4 aut
245	1 0	a A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
264		c 2011-10-14
264	1	b Springer Science and Business Media LLC,c 2012
520		a Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.
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
653		a Adult
653		a Child
653		a Child Development Disorders
653		a Pervasive
653		a Genetics
653		a Cluster Analysis
653		a Cohort Studies
653		a DNA Copy Number Variations
653		a Female
653		a Genetic Predisposition to Disease
653		a Genetics
653		a Genome-Wide Association Study
653		a Methods
653		a Genotype
653		a Haplotypes
653		a Genetics
653		a Homozygote
653		a Humans
653		a Linkage Disequilibrium
653		a Male
653		a Middle Aged
653		a Nuclear Family
653		a Polymorphism
653		a Single Nucleotide
700	1	a Magalhaes, Tiago4 aut
700	1	a Conroy, Judith M4 aut
700	1	a Regan, Regina4 aut
700	1	a Shah, Naisha4 aut
700	1	a Anney, Richard4 aut
700	1	a Shields, Denis C4 aut
700	1	a Abrahams, Brett S4 aut
700	1	a Almeida, Joana4 aut
700	1	a Bacchelli, Elena4 aut
700	1	a Bailey, Anthony J4 aut
700	1	a Baird, Gillian4 aut
700	1	a Battaglia, Agatino4 aut
700	1	a Berney, Tom4 aut
700	1	a Bolshakova, Nadia4 aut
700	1	a Bolton, Patrick F.4 aut
700	1	a Bourgeron, Thomas4 aut
700	1	a Brennan, Sean4 aut
700	1	a Cali, Phil4 aut
700	1	a Correia, Catarina4 aut
700	1	a Corsello, Christina4 aut
700	1	a Coutanche, Marc4 aut
700	1	a Dawson, Geraldine4 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 Foley, Suzanne4 aut
700	1	a Fombonne, Eric4 aut
700	1	a Freitag, Christine M4 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, Jonathan4 aut
700	1	a Guter, Stephen J4 aut
700	1	a Hakonarson, Hakon4 aut
700	1	a Holt, Richard4 aut
700	1	a Hughes, Gillian4 aut
700	1	a Hus, Vanessa4 aut
700	1	a Igliozzi, Roberta4 aut
700	1	a Kim, Cecilia4 aut
700	1	a Klauck, Sabine M4 aut
700	1	a Kolevzon, Alexander4 aut
700	1	a Lamb, Janine A4 aut
700	1	a Leboyer, Marion4 aut
700	1	a Le Couteur, Ann4 aut
700	1	a Leventhal, Bennett L4 aut
700	1	a Lord, Catherine4 aut
700	1	a Lund, Sabata C4 aut
700	1	a Maestrini, Elena4 aut
700	1	a Mantoulan, Carine4 aut
700	1	a Marshall, Christian R4 aut
700	1	a McConachie, Helen4 aut
700	1	a McDougle, Christopher J4 aut
700	1	a McGrath, Jane4 aut
700	1	a McMahon, William M4 aut
700	1	a Merikangas, Alison4 aut
700	1	a Miller, Judith4 aut
700	1	a Minopoli, Fiorella4 aut
700	1	a Mirza, Ghazala K4 aut
700	1	a Munson, Jeff4 aut
700	1	a Nelson, Stanley F4 aut
700	1	a Nygren, Gudrun,d 1957u Gothenburg University,Göteborgs universitet,Gillbergcentrum,Gillberg Neuropsychiatry Centre4 aut0 (Swepub:gu)xnygrg
700	1	a Oliveira, Guiomar4 aut
700	1	a Pagnamenta, Alistair T4 aut
700	1	a Papanikolaou, Katerina4 aut
700	1	a Parr, Jeremy R4 aut
700	1	a Parrini, Barbara4 aut
700	1	a Pickles, Andrew4 aut
700	1	a Pinto, Dalila4 aut
700	1	a Piven, Joseph4 aut
700	1	a Posey, David J4 aut
700	1	a Poustka, Annemarie4 aut
700	1	a Poustka, Fritz4 aut
700	1	a Ragoussis, Jiannis4 aut
700	1	a Roge, Bernadette4 aut
700	1	a Rutter, Michael L4 aut
700	1	a Sequeira, Ana F4 aut
700	1	a Soorya, Latha4 aut
700	1	a Sousa, Inês4 aut
700	1	a Sykes, Nuala4 aut
700	1	a Stoppioni, Vera4 aut
700	1	a Tancredi, Raffaella4 aut
700	1	a Tauber, Maïté4 aut
700	1	a Thompson, Ann P4 aut
700	1	a Thomson, Susanne4 aut
700	1	a Tsiantis, John4 aut
700	1	a Van Engeland, Herman4 aut
700	1	a Vincent, John B4 aut
700	1	a Volkmar, Fred4 aut
700	1	a Vorstman, Jacob A S4 aut
700	1	a Wallace, Simon4 aut
700	1	a Wang, Kai4 aut
700	1	a Wassink, Thomas H4 aut
700	1	a White, Kathy4 aut
700	1	a Wing, Kirsty4 aut
700	1	a Wittemeyer, Kerstin4 aut
700	1	a Yaspan, Brian L4 aut
700	1	a Zwaigenbaum, Lonnie4 aut
700	1	a Betancur, Catalina4 aut
700	1	a Buxbaum, Joseph D4 aut
700	1	a Cantor, Rita M4 aut
700	1	a Cook, Edwin H4 aut
700	1	a Coon, Hilary4 aut
700	1	a Cuccaro, Michael L4 aut
700	1	a Geschwind, Daniel H4 aut
700	1	a Haines, Jonathan L4 aut
700	1	a Hallmayer, Joachim4 aut
700	1	a Monaco, Anthony P4 aut
700	1	a Nurnberger, John I4 aut
700	1	a Pericak-Vance, Margaret A4 aut
700	1	a Schellenberg, Gerard D4 aut
700	1	a Scherer, Stephen W4 aut
700	1	a Sutcliffe, James S4 aut
700	1	a Szatmari, Peter4 aut
700	1	a Vieland, Veronica J4 aut
700	1	a Wijsman, Ellen M4 aut
700	1	a Green, Andrew4 aut
700	1	a Gill, Michael4 aut
700	1	a Gallagher, Louise4 aut
700	1	a Vicente, Astrid4 aut
700	1	a Ennis, Sean4 aut
710	2	a Göteborgs universitetb Gillbergcentrum4 org
773	0	t Human Geneticsd : Springer Science and Business Media LLCg 131:4, s. 565-579q 131:4<565-579x 0340-6717x 1432-1203
856	4	u https://link.springer.com/content/pdf/10.1007%2Fs00439-011-1094-6.pdf
856	4 8	u https://gup.ub.gu.se/publication/147587
856	4 8	u https://doi.org/10.1007/s00439-011-1094-6

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Av författaren/redakt...: Casey, Jillian P; Magalhaes, Tiago; Conroy, Judith M; Regan, Regina; Shah, Naisha; Anney, Richard; visa fler...; Shields, Denis C; Abrahams, Brett ...; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony ...; Baird, Gillian; Battaglia, Agati ...; Berney, Tom; Bolshakova, Nadi ...; Bolton, Patrick ...; Bourgeron, Thoma ...; Brennan, Sean; Cali, Phil; Correia, Catarin ...; Corsello, Christ ...; Coutanche, Marc; Dawson, Geraldin ...; de Jonge, Mareth ...; Delorme, Richard; Duketis, Eftichi ...; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridg ...; Folstein, Susan ...; Foley, Suzanne; Fombonne, Eric; Freitag, Christi ...; Gilbert, John; Gillberg, Christ ...; Glessner, Joseph ...; Green, Jonathan; Guter, Stephen J; Hakonarson, Hako ...; Holt, Richard; Hughes, Gillian; Hus, Vanessa; Igliozzi, Robert ...; Kim, Cecilia; Klauck, Sabine M; Kolevzon, Alexan ...; Lamb, Janine A; Leboyer, Marion; Le Couteur, Ann; Leventhal, Benne ...; Lord, Catherine; Lund, Sabata C; Maestrini, Elena; Mantoulan, Carin ...; Marshall, Christ ...; McConachie, Hele ...; McDougle, Christ ...; McGrath, Jane; McMahon, William ...; Merikangas, Alis ...; Miller, Judith; Minopoli, Fiorel ...; Mirza, Ghazala K; Munson, Jeff; Nelson, Stanley ...; Nygren, Gudrun, ...; Oliveira, Guioma ...; Pagnamenta, Alis ...; Papanikolaou, Ka ...; Parr, Jeremy R; Parrini, Barbara; Pickles, Andrew; Pinto, Dalila; Piven, Joseph; Posey, David J; Poustka, Annemar ...; Poustka, Fritz; Ragoussis, Jiann ...; Roge, Bernadette; Rutter, Michael ...; Sequeira, Ana F; Soorya, Latha; Sousa, Inês; Sykes, Nuala; Stoppioni, Vera; Tancredi, Raffae ...; Tauber, Maïté; Thompson, Ann P; Thomson, Susanne; Tsiantis, John; Van Engeland, He ...; Vincent, John B; Volkmar, Fred; Vorstman, Jacob ...; Wallace, Simon; Wang, Kai; Wassink, Thomas ...; White, Kathy; Wing, Kirsty; Wittemeyer, Kers ...; Yaspan, Brian L; Zwaigenbaum, Lon ...; Betancur, Catali ...; Buxbaum, Joseph ...; Cantor, Rita M; Cook, Edwin H; Coon, Hilary; Cuccaro, Michael ...; Geschwind, Danie ...; Haines, Jonathan ...; Hallmayer, Joach ...; Monaco, Anthony ...; Nurnberger, John ...; Pericak-Vance, M ...; Schellenberg, Ge ...; Scherer, Stephen ...; Sutcliffe, James ...; Szatmari, Peter; Vieland, Veronic ...; Wijsman, Ellen M; Green, Andrew; Gill, Michael; Gallagher, Louis ...; Vicente, Astrid; Ennis, Sean; visa färre...

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MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Klinisk medicin; och Psykiatri

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