A genome-wide association study of autism reveals a common novel risk locus at 5p14.1

Deqiong Ma, Daria Salyakina, James M. Jaworski, Ioanna Konidari, Patrice L. Whitehead, Ashley N. Andersen, Joshua D. Hoffman, Susan H. Slifer, Dale J. Hedges, Holly N Cukier, Anthony Griswold, Jacob L McCauley, Gary W Beecham, Harry H. Wright, Ruth K. Abramson, Eden R Martin, John P. Hussman, John Gilbert, Michael Cuccaro, Jonathan L. Haines & 1 others Margaret A Pericak-Vance

Research output: Contribution to journalArticle

149 Citations (Scopus)

Abstract

Although autism is one of the most heritable neuropsychiatric disorders, its underlying genetic architecture has largely eluded description. To comprehensively examine the hypothesis that common variation is important in autism, we performed a genome-wide association study (GWAS) using a discovery dataset of 438 autistic Caucasian families and the Illumina Human 1M beadchip. 96 single nucleotide polymorphisms (SNPs) demonstrated strong association with autism risk (p-value < 0.0001). The validation of the top 96 SNPs was performed using an independent dataset of 487 Caucasian autism families genotyped on the 550K Illumina BeadChip. A novel region on chromosome 5p14.1 showed significance in both the discovery and validation datasets. Joint analysis of all SNPs in this region identified 8 SNPs having improved p-values (3.24E-04 to 3.40E-06) than in either dataset alone. Our findings demonstrate that in addition to multiple rare variations, part of the complex genetic architecture of autism involves common variation.

Original languageEnglish
Pages (from-to)263-273
Number of pages11
JournalAnnals of Human Genetics
Volume73
Issue number3
DOIs
StatePublished - May 8 2009

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Genome-Wide Association Study
Autistic Disorder
Single Nucleotide Polymorphism
Chromosomes
Datasets

Keywords

  • Autism
  • Commonvariation
  • GWAS

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. / Ma, Deqiong; Salyakina, Daria; Jaworski, James M.; Konidari, Ioanna; Whitehead, Patrice L.; Andersen, Ashley N.; Hoffman, Joshua D.; Slifer, Susan H.; Hedges, Dale J.; Cukier, Holly N; Griswold, Anthony; McCauley, Jacob L; Beecham, Gary W; Wright, Harry H.; Abramson, Ruth K.; Martin, Eden R; Hussman, John P.; Gilbert, John; Cuccaro, Michael; Haines, Jonathan L.; Pericak-Vance, Margaret A.

In: Annals of Human Genetics, Vol. 73, No. 3, 08.05.2009, p. 263-273.

Research output: Contribution to journalArticle

Ma, D, Salyakina, D, Jaworski, JM, Konidari, I, Whitehead, PL, Andersen, AN, Hoffman, JD, Slifer, SH, Hedges, DJ, Cukier, HN, Griswold, A, McCauley, JL, Beecham, GW, Wright, HH, Abramson, RK, Martin, ER, Hussman, JP, Gilbert, J, Cuccaro, M, Haines, JL & Pericak-Vance, MA 2009, 'A genome-wide association study of autism reveals a common novel risk locus at 5p14.1', Annals of Human Genetics, vol. 73, no. 3, pp. 263-273. https://doi.org/10.1111/j.1469-1809.2009.00523.x
Ma D, Salyakina D, Jaworski JM, Konidari I, Whitehead PL, Andersen AN et al. A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Annals of Human Genetics. 2009 May 8;73(3):263-273. https://doi.org/10.1111/j.1469-1809.2009.00523.x
Ma, Deqiong ; Salyakina, Daria ; Jaworski, James M. ; Konidari, Ioanna ; Whitehead, Patrice L. ; Andersen, Ashley N. ; Hoffman, Joshua D. ; Slifer, Susan H. ; Hedges, Dale J. ; Cukier, Holly N ; Griswold, Anthony ; McCauley, Jacob L ; Beecham, Gary W ; Wright, Harry H. ; Abramson, Ruth K. ; Martin, Eden R ; Hussman, John P. ; Gilbert, John ; Cuccaro, Michael ; Haines, Jonathan L. ; Pericak-Vance, Margaret A. / A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. In: Annals of Human Genetics. 2009 ; Vol. 73, No. 3. pp. 263-273.
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