A genome-wide association study of social and non-social autistic-like traits in the general population using pooled DNA, 500 K SNP microarrays and both community and diagnosed autism replication samples

Angelica Ronald*, Lee M. Butcher, Sophia Docherty, Oliver S P Davis, Leonard C. Schalkwyk, Ian W. Craig, Robert Plomin

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)peer-review

45 Citations (Scopus)

Abstract

Two separate genome-wide association studies were conducted to identify single nucleotide polymorphisms (SNPs) associated with social and nonsocial autistic- like traits. We predicted that we would find SNPs associated with social and non-social autistic-like traits and that different SNPs would be associated with social and nonsocial. In Stage 1, each study screened for allele frequency differences in ∼430,000 autosomal SNPs using pooled DNA on microarrays in high-scoring versus lowscoring boys from a general population sample (N = ∼400/group). In Stage 2, 22 and 20 SNPs in the social and non-social studies, respectively, were tested for QTL association by individually genotyping an independent community sample of 1,400 boys. One SNP (rs11894053) was nominally associated (P<.05, uncorrected for multiple testing) with social autistic-like traits. When the sample was increased by adding females, 2 additional SNPs were nominally significant (P<.05). These 3 SNPs, however, showed no significant association in transmission disequilibrium analyses of diagnosed ASD families.

Original languageEnglish
Pages (from-to)31-45
Number of pages15
JournalBehavior Genetics
Volume40
Issue number1
DOIs
Publication statusPublished - 1 Jan 2010

Keywords

  • Autism
  • Autistic traits
  • Genome-wide association
  • Heritability
  • Microarrays
  • Pooling

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