Sökning: onr:"swepub:oai:gup.ub.gu.se/147587" > A novel approach of...
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000 | 08867naa a2202077 4500 | |
001 | oai:gup.ub.gu.se/147587 | |
003 | SwePub | |
008 | 240910s2012 | |||||||||||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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