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

Anney R | Klei L | Pinto D | Regan R | Conroy J | Magalhaes TR | Correia C | Abrahams BS | Sykes N | Pagnamenta AT | Almeida J | Bacchelli E | Bailey AJ | Baird G | Battaglia A | Berney T | Bolshakova N | Bölte S | Bolton PF | Bourgeron T | Brennan S | Brian J | Carson AR | Casallo G | Casey J | Chu SH | Cochrane L | Corsello C | Crawford EL | Crossett A | Dawson G | de Jonge M | Delorme R | Drmic I | Duketis E | Duque F | Estes A | Farrar P | Fernandez BA | Folstein SE | Fombonne E | Freitag CM | Gilbert J | Gillberg C | Glessner JT | Goldberg J | Green J | Guter SJ | Hakonarson H | Heron EA | Hill M | Holt R | Howe JL | Hughes G | Hus V | Igliozzi R | Kim C | Klauck SM | Kolevzon A | Korvatska O | Kustanovich V | Lajonchere CM | Lamb JA | Laskawiec M | Leboyer M | Le Couteur A | Leventhal BL | Lionel AC | Liu XQ | Lord C | Lotspeich L | Lund SC | Maestrini E | Mahoney W | Mantoulan C | Marshall CR | McConachie H | McDougle CJ | McGrath J | McMahon WM | Melhem NM | Merikangas A | Migita O | Minshew NJ | Mirza GK | Munson J | Nelson SF | Noakes C | Noor A | Nygren G | Oliveira G | Papanikolaou K | Parr JR | Parrini B | Paton T | Pickles A | Piven J | Posey DJ | Poustka A | Poustka F | Prasad A | Ragoussis J | Renshaw K | Rickaby J | Roberts W | Roeder K | Roge B | Rutter ML | Bierut LJ | Rice JP | Salt J | Sansom K | Sato D | Segurado R | Senman L | Shah N | Sheffield VC | Soorya L | Sousa I | Stoppioni V | Strawbridge C | Tancredi R | Tansey K | Thiruvahindrapduram B | Thompson AP | Thomson S | Tryfon A | Tsiantis J | Van Engeland H | Vincent JB | Volkmar F | Wallace S | Wang K | Wang Z | Wassink TH | Wing K | Wittemeyer K | Wood S | Yaspan BL | Zurawiecki D | Zwaigenbaum L | Betancur C | Buxbaum JD | Cantor RM | Cook EH | Coon H | Cuccaro ML | Gallagher L | Geschwind DH | Gill M | Haines JL | Miller J | Monaco AP | Nurnberger JI | Paterson AD | Pericak-Vance MA | Schellenberg GD | Scherer SW | Sutcliffe JS | Szatmari P | Vicente AM | Vieland VJ | Wijsman EM | Devlin B | Ennis S | Hallmayer J
Human molecular genetics | Oct 15, 2010

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.

Pubmed ID: 20663923 RIS Download

Mesh terms: 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

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Associated grants

  • Agency: NIMH NIH HHS, Id: K01 MH077930
  • Agency: NICHD NIH HHS, Id: P50 HD055782
  • Agency: NIMH NIH HHS, Id: MH066673
  • Agency: NICHD NIH HHS, Id: U19 HD035469-10
  • Agency: NHGRI NIH HHS, Id: U01 HG004422-02
  • Agency: NINDS NIH HHS, Id: NS049261
  • Agency: NIMH NIH HHS, Id: MH077930
  • Agency: NIAAA NIH HHS, Id: U10 AA008401
  • Agency: NICHD NIH HHS, Id: U19 HD035469-09
  • Agency: NIMH NIH HHS, Id: MH55284
  • Agency: NIMH NIH HHS, Id: MH080647
  • Agency: NIMH NIH HHS, Id: MH061009
  • Agency: NICHD NIH HHS, Id: HD055782
  • Agency: NICHD NIH HHS, Id: U19 HD035469
  • Agency: NIMH NIH HHS, Id: MH081754
  • Agency: Medical Research Council, Id: U19 HD035469-06
  • Agency: NICHD NIH HHS, Id: MH66766
  • Agency: NIMH NIH HHS, Id: MH52708
  • Agency: NIMH NIH HHS, Id: R01 MH057881
  • Agency: NIMH NIH HHS, Id: NS042165
  • Agency: NINDS NIH HHS, Id: AS7462
  • Agency: Autism Speaks, Id: U01 HG004422
  • Agency: Canadian Institutes of Health Research, Id: R01 DA019963-02
  • Agency: NHGRI NIH HHS, Id: P50 HD055751
  • Agency: NIDA NIH HHS, Id: R01 DA019963
  • Agency: NICHD NIH HHS, Id: U01 HG004438
  • Agency: NIDA NIH HHS, Id: U01 HG004446
  • Agency: NHGRI NIH HHS, Id: HD055784
  • Agency: NHGRI NIH HHS, Id: MH057881
  • Agency: NICHD NIH HHS, Id: MH06359
  • Agency: Howard Hughes Medical Institute, Id: R01 DA019963-01A2
  • Agency: NIMH NIH HHS, Id: P01 CA089392
  • Agency: NIMH NIH HHS, Id: G0601030
  • Agency: NIDA NIH HHS, Id: R01 DA019963-03
  • Agency: NCI NIH HHS, Id: 075491/Z/04 UK
  • Agency: Medical Research Council, Id: NS026630
  • Agency: NIDA NIH HHS, Id: R01 DA013423
  • Agency: Wellcome Trust, Id: HD35465
  • Agency: NINDS NIH HHS, Id: P50 HD055751-03
  • Agency: NIDA NIH HHS, Id: U19 HD035469-08
  • Agency: NICHD NIH HHS, Id: U19 HD035469-07
  • Agency: NICHD NIH HHS, Id: HD055751
  • Agency: NICHD NIH HHS, Id:
  • Agency: NICHD NIH HHS, Id:
  • Agency: NICHD NIH HHS, Id:

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Allen Institute for Brain Science

Independent 501(c)(3) nonprofit medical research organization dedicated to accelerating the understanding of how the human brain works. Utilizing the mouse model system, a multidisciplinary group of neuroscientists, molecular biologists, informaticists, engineers, mathematicians, statisticians, and computational biologists have joined together to investigate expression of 20,000 genes in the adult mouse brain and to map gene expression to a cellular level beyond neuroanatomic boundaries. The data generated from this joint effort is contained in the publicly available Allen Brain Atlas application. Molecular approaches to understanding the functional organization of the brain promise new insights into the relationships between genes, brain, behavior and disease. To facilitate such insights, the Allen Institute produces large-scale projects and makes the resulting data and tools freely available online to scientists worldwide. These open resources, all available at www.brain-map.org, are intended to foster scientific discovery and collaboration. Atlases: Allen Developing Mouse Brain Atlas: A map of gene expression in the developing mouse brain. Building on the Allen Mouse Brain Atlas, this atlas reveals gene expression patterns from embryonic through postnatal stages to provide information about both spatial and temporal regulation of gene expression. Allen Spinal Cord Atlas: A genome-wide map of gene expression throughout the adult and juvenile mouse spinal cord. The Atlas was made possible through the generous support of a diverse consortium of funders, representing disease organizations, foundations, and corporate and private donors. Allen Mouse Brain Atlas (formerly Allen Brain Atlas): A genome-wide, three-dimensional map of gene expression in the adult mouse brain. Similar in scale to the Human Genome Project, the Atlas reveals the expression patterns of approximately 20,000 genes throughout the entire adult mouse brain down to the cellular level. The Allen Institutes inaugural project, the Atlas was completed in 2006. Studies: Mouse Diversity Study: Characterization of gene expression in the brain across genetic backgrounds and sex. Expanding on the Allen Mouse Brain Atlas, this resource includes data for 49 pharmaceutical drug target genes and a selected set of additional genes across seven mouse strains and in female mice. Transgenic Mouse Study: Comprehensive characterization of the expression patterns of genetically-controlled markers or tool genes in the brains of transgenic mice. Providing standardized, detailed, anatomical profiling of transgene expression throughout the brain, this dataset is intended to reveal the potential of each transgenic mouse line and help researchers choose the appropriate tools for their studies. Human Cortex Study: A collection of gene expression data in the adult human neocortex. Providing data for several categories of genes across different cortical regions and human individuals, including control and schizophrenic cases, the dataset has the potential to enable exploration of variability in cortical gene expression across different ages, between genders across different regions of the cortex and in schizophrenia. Sleep Study: A comprehensive collection of gene expression data in the mouse brain for five different conditions of sleep and wakefulness. Generated in collaboration with SRI International, this unique dataset is intended to help sleep researchers advance understanding of sleep deprivation and the dynamic changes underlying sleep/wake cycles. The sleep study was funded by an award from the U.S. Department of Defense.

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