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

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

Authors

  • 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

Journal

Human molecular genetics

Publication Data

October 15, 2010

Associated Grants

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

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