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A genome-wide linkage and association scan reveals novel loci for autism.

Publication ,  Journal Article
Weiss, LA; Arking, DE; Gene Discovery Project of Johns Hopkins & the Autism Consortium, ; Daly, MJ; Chakravarti, A
Published in: Nature
October 8, 2009

Although autism is a highly heritable neurodevelopmental disorder, attempts to identify specific susceptibility genes have thus far met with limited success. Genome-wide association studies using half a million or more markers, particularly those with very large sample sizes achieved through meta-analysis, have shown great success in mapping genes for other complex genetic traits. Consequently, we initiated a linkage and association mapping study using half a million genome-wide single nucleotide polymorphisms (SNPs) in a common set of 1,031 multiplex autism families (1,553 affected offspring). We identified regions of suggestive and significant linkage on chromosomes 6q27 and 20p13, respectively. Initial analysis did not yield genome-wide significant associations; however, genotyping of top hits in additional families revealed an SNP on chromosome 5p15 (between SEMA5A and TAS2R1) that was significantly associated with autism (P = 2 x 10(-7)). We also demonstrated that expression of SEMA5A is reduced in brains from autistic patients, further implicating SEMA5A as an autism susceptibility gene. The linkage regions reported here provide targets for rare variation screening whereas the discovery of a single novel association demonstrates the action of common variants.

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Published In

Nature

DOI

EISSN

1476-4687

Publication Date

October 8, 2009

Volume

461

Issue

7265

Start / End Page

802 / 808

Location

England

Related Subject Headings

  • Semaphorins
  • Sample Size
  • Polymorphism, Single Nucleotide
  • Nerve Tissue Proteins
  • Membrane Proteins
  • Internationality
  • Humans
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Genetic Linkage
 

Citation

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Weiss, L. A., Arking, D. E., Gene Discovery Project of Johns Hopkins & the Autism Consortium, ., Daly, M. J., & Chakravarti, A. (2009). A genome-wide linkage and association scan reveals novel loci for autism. Nature, 461(7265), 802–808. https://doi.org/10.1038/nature08490
Weiss, Lauren A., Dan E. Arking, Dan E. Gene Discovery Project of Johns Hopkins & the Autism Consortium, Mark J. Daly, and Aravinda Chakravarti. “A genome-wide linkage and association scan reveals novel loci for autism.Nature 461, no. 7265 (October 2009): 802–8. https://doi.org/10.1038/nature08490.
Weiss LA, Arking DE, Gene Discovery Project of Johns Hopkins & the Autism Consortium, Daly MJ, Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature. 2009 Oct;461(7265):802–8.
Weiss, Lauren A., et al. “A genome-wide linkage and association scan reveals novel loci for autism.Nature, vol. 461, no. 7265, Oct. 2009, pp. 802–08. Epmc, doi:10.1038/nature08490.
Weiss LA, Arking DE, Gene Discovery Project of Johns Hopkins & the Autism Consortium, Daly MJ, Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature. 2009 Oct;461(7265):802–808.
Journal cover image

Published In

Nature

DOI

EISSN

1476-4687

Publication Date

October 8, 2009

Volume

461

Issue

7265

Start / End Page

802 / 808

Location

England

Related Subject Headings

  • Semaphorins
  • Sample Size
  • Polymorphism, Single Nucleotide
  • Nerve Tissue Proteins
  • Membrane Proteins
  • Internationality
  • Humans
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Genetic Linkage