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

Publication ,  Journal Article
Anney, R; Klei, L; Pinto, D; Regan, R; Conroy, J; Magalhaes, TR; Correia, C; Abrahams, BS; Sykes, N; Pagnamenta, AT; Almeida, J; Bacchelli, E ...
Published in: Hum Mol Genet
October 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.

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Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

October 15, 2010

Volume

19

Issue

20

Start / End Page

4072 / 4082

Location

England

Related Subject Headings

  • White People
  • Risk Factors
  • Polymorphism, Single Nucleotide
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genome, Human
  • Genetics & Heredity
  • Genetic Variation
  • Genetic Predisposition to Disease
 

Citation

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Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., … Hallmayer, J. (2010). A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet, 19(20), 4072–4082. https://doi.org/10.1093/hmg/ddq307
Anney, Richard, Lambertus Klei, Dalila Pinto, Regina Regan, Judith Conroy, Tiago R. Magalhaes, Catarina Correia, et al. “A genome-wide scan for common alleles affecting risk for autism.Hum Mol Genet 19, no. 20 (October 15, 2010): 4072–82. https://doi.org/10.1093/hmg/ddq307.
Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, et al. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet. 2010 Oct 15;19(20):4072–82.
Anney, Richard, et al. “A genome-wide scan for common alleles affecting risk for autism.Hum Mol Genet, vol. 19, no. 20, Oct. 2010, pp. 4072–82. Pubmed, doi:10.1093/hmg/ddq307.
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 X-Q, 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. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet. 2010 Oct 15;19(20):4072–4082.
Journal cover image

Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

October 15, 2010

Volume

19

Issue

20

Start / End Page

4072 / 4082

Location

England

Related Subject Headings

  • White People
  • Risk Factors
  • Polymorphism, Single Nucleotide
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genome, Human
  • Genetics & Heredity
  • Genetic Variation
  • Genetic Predisposition to Disease