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Common genetic variants on 5p14.1 associate with autism spectrum disorders.

Publication ,  Journal Article
Wang, K; Zhang, H; Ma, D; Bucan, M; Glessner, JT; Abrahams, BS; Salyakina, D; Imielinski, M; Bradfield, JP; Sleiman, PMA; Kim, CE; Hou, C ...
Published in: Nature
May 28, 2009

Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental and neuropsychiatric disorders characterized by deficits in verbal communication, impairment of social interaction, and restricted and repetitive patterns of interests and behaviour. To identify common genetic risk factors underlying ASDs, here we present the results of genome-wide association studies on a cohort of 780 families (3,101 subjects) with affected children, and a second cohort of 1,204 affected subjects and 6,491 control subjects, all of whom were of European ancestry. Six single nucleotide polymorphisms between cadherin 10 (CDH10) and cadherin 9 (CDH9)-two genes encoding neuronal cell-adhesion molecules-revealed strong association signals, with the most significant SNP being rs4307059 (P = 3.4 x 10(-8), odds ratio = 1.19). These signals were replicated in two independent cohorts, with combined P values ranging from 7.4 x 10(-8) to 2.1 x 10(-10). Our results implicate neuronal cell-adhesion molecules in the pathogenesis of ASDs, and represent, to our knowledge, the first demonstration of genome-wide significant association of common variants with susceptibility to ASDs.

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Published In

Nature

DOI

EISSN

1476-4687

Publication Date

May 28, 2009

Volume

459

Issue

7246

Start / End Page

528 / 533

Location

England

Related Subject Headings

  • Reproducibility of Results
  • Polymorphism, Single Nucleotide
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genetic Variation
  • Genetic Predisposition to Disease
  • Genetic Markers
  • General Science & Technology
  • Cohort Studies
 

Citation

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Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J. T., Abrahams, B. S., … Hakonarson, H. (2009). Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature, 459(7246), 528–533. https://doi.org/10.1038/nature07999
Wang, Kai, Haitao Zhang, Deqiong Ma, Maja Bucan, Joseph T. Glessner, Brett S. Abrahams, Daria Salyakina, et al. “Common genetic variants on 5p14.1 associate with autism spectrum disorders.Nature 459, no. 7246 (May 28, 2009): 528–33. https://doi.org/10.1038/nature07999.
Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature. 2009 May 28;459(7246):528–33.
Wang, Kai, et al. “Common genetic variants on 5p14.1 associate with autism spectrum disorders.Nature, vol. 459, no. 7246, May 2009, pp. 528–33. Pubmed, doi:10.1038/nature07999.
Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PMA, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SFA, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature. 2009 May 28;459(7246):528–533.
Journal cover image

Published In

Nature

DOI

EISSN

1476-4687

Publication Date

May 28, 2009

Volume

459

Issue

7246

Start / End Page

528 / 533

Location

England

Related Subject Headings

  • Reproducibility of Results
  • Polymorphism, Single Nucleotide
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genetic Variation
  • Genetic Predisposition to Disease
  • Genetic Markers
  • General Science & Technology
  • Cohort Studies