DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Autism. The EFO term autism was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: autism

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

K Wang, H Zhang, D Ma, M Bucan, JT Glessner, BS Abrahams, D Salyakina, M Imielinski, JP Bradfield, PM Sleiman, CE Kim, C Hou, E Frackelton, R Chiavacci, N Takahashi, T Sakurai, E Rappaport, CM Lajonchere, J Munson, A Estes, O Korvatska, J Piven, LI Sonnenblick, AI Alvarez Retuerto, EI Herman, H Dong, T Hutman, M Sigman, S Ozonoff, A Klin, T Owley, JA Sweeney, CW Brune, RM Cantor, R Bernier, JR Gilbert, ML Cuccaro, WM McMahon, J Miller, MW State, TH Wassink, H Coon, SE Levy, RT Schultz, JI Nurnberger, JL Haines, JS Sutcliffe, EH Cook, NJ Minshew, JD Buxbaum, G Dawson, SF Grant, DH Geschwind, MA Pericak-Vance, GD Schellenberg, H Hakonarson

TITLE:

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

JOURNAL:

Nature May 2009, Vol 459, pp. 528-33

ABSTRACT:

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. PUBMED: 19404256
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