Skip to main content
eScholarship
Open Access Publications from the University of California

No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network

  • Author(s): Devlin, B
  • Bennett, P
  • Cook, EH
  • Dawson, G
  • Gonen, D
  • Grigorenko, EL
  • McMahon, W
  • Pauls, D
  • Smith, M
  • Spence, MA
  • Schellenberg, GD
  • et al.
Abstract

A recent study by Ingram et al. [2000b: Teratology 62:393-405] 4051 suggests a His73Arg polymorphism (A:G) in HOXA1 contributes substantially to a liability for autism. Using 68 individuals diagnosed with Autism Spectrum Disorders, they found a significant dearth of G homozygotes and biased transmission of G alleles from parents to affected offspring, especially from mothers. Because the connection between HOXA1 and liability to autism is compelling, we attempted to replicate their finding using a larger, independent sample from the Collaborative Programs of Excellence in Autism (CPEA) network. In our data, genotype frequencies conform to Hardy-Weinberg equilibrium; allele transmissions meet Mendelian expectations; and there is no obvious sex-biased allele transmission. Based on our sample size, calculations suggest that we would have at least 95% power to detect linkage and association even if the A:G polymorphism were to account for only 1% of the heritability of autism. Therefore, although we cannot exclude the possibility that the samples in the two studies are intrinsically different, our data from our sample argue against a major role for HOXA1 His73Arg in liability to autism. © 2002 Wiley-Liss, Inc.

Many UC-authored scholarly publications are freely available on this site because of the UC Academic Senate's Open Access Policy. Let us know how this access is important for you.

Main Content
Current View