Examination of tetrahydrobiopterin pathway genes in autism

N. C. Schnetz-Boutaud, B. M. Anderson, K. D. Brown, H. H. Wright, R. K. Abramson, M. L. Cuccaro, J. R. Gilbert, M. A. Pericak-Vance, J. L. Haines

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Autism is a complex disorder with a high degree of heritability and significant phenotypic and genotypic heterogeneity. Although candidate gene studies and genome-wide screens have failed to identify major causal loci associated with autism, numerous studies have proposed association with several variations in genes in the dopaminergic and serotonergic pathways. Because tetrahydrobiopterin (BH4) is the essential cofactor in the synthesis of these two neurotransmitters, we genotyped 25 SNPs in nine genes of the BH4 pathway in a total of 403 families. Significant nominal association was detected in the gene for 6-pyruvoyl-tetrahydropterin synthase, PTS (chromosome 11), with P = 0.009; this result was not restricted to an affected male-only subset. Multilocus interaction was detected in the BH4 pathway alone, but not across the serotonin, dopamine and BH4 pathways.

Original languageEnglish (US)
Pages (from-to)753-757
Number of pages5
JournalGenes, Brain and Behavior
Issue number8
StatePublished - Nov 2009


  • Association
  • Autism
  • Linkage
  • SNPs
  • Tetrahydrobiopterin

ASJC Scopus subject areas

  • Behavioral Neuroscience
  • Genetics
  • Neurology


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