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Protocadherin α (PCDHA) as a novel susceptibility gene for autism

Ayyappan Anitha1, Ismail Thanseem, Kazuhiko Nakamura

  • 1Research Center for Child Mental Development, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Journal of Psychiatry & Neuroscience : JPN
|October 4, 2012
PubMed

Insights

Genetic analysis implicates the protocadherin alpha (PCDHA) gene cluster in autism spectrum disorder (ASD). Specific PCDHA single nucleotide polymorphisms (SNPs) show significant associations, suggesting PCDHA as a potential genetic contributor to ASD.

Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • Synaptic dysfunction is implicated in autism pathogenesis.
  • The protocadherin alpha (PCDHA) gene cluster is involved in synaptic specificity and brain innervation.
  • PCDHA is hypothesized as a candidate gene for autism.

Purpose of the Study:

  • To investigate the genetic association between PCDHA gene cluster and autism.
  • To identify specific single nucleotide polymorphisms (SNPs) within PCDHA linked to autism.

Main Methods:

  • Examined 14 PCDHA single nucleotide polymorphisms (SNPs).
  • Analyzed DNA samples from 3211 individuals (841 families) from the Autism Genetic Resource Exchange.
  • Utilized quantitative transmission disequilibrium testing.

Main Results:

  • Five PCDHA SNPs showed significant associations with autism.
  • rs1119032 demonstrated the strongest association in multiplex families (p < 0.001), withstanding multiple testing correction.
  • Haplotypes involving rs1119032 and genotype distributions of rs17119346 were significantly associated with autism diagnostic scores.

Conclusions:

  • The study provides strong genetic evidence supporting PCDHA as a potential candidate gene for autism.
  • Replication in independent and diverse populations is recommended.
Abstract

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