Genetic Variation in Melatonin Pathway Enzymes in Children with Autism Spectrum Disorder and Comorbid Sleep Onset Delay

Olivia J. Veatch, Julie S. Pendergast, Melissa J. Allen, Roberta M. Leu, Carl Hirschie Johnson, Sarah H. Elsea, Beth A. Malow

Research output: Contribution to journalArticlepeer-review

62 Scopus citations

Abstract

Sleep disruption is common in individuals with autism spectrum disorder (ASD). Genes whose products regulate endogenous melatonin modify sleep patterns and have been implicated in ASD. Genetic factors likely contribute to comorbid expression of sleep disorders in ASD. We studied a clinically unique ASD subgroup, consisting solely of children with comorbid expression of sleep onset delay. We evaluated variation in two melatonin pathway genes, acetylserotonin O-methyltransferase (ASMT) and cytochrome P450 1A2 (CYP1A2). We observed higher frequencies than currently reported (p < 0.04) for variants evidenced to decrease ASMT expression and related to decreased CYP1A2 enzyme activity (p ≤ 0.0007). We detected a relationship between genotypes in ASMT and CYP1A2 (r2 = 0.63). Our results indicate that expression of sleep onset delay relates to melatonin pathway genes.

Original languageEnglish
Pages (from-to)100-110
Number of pages11
JournalJournal of Autism and Developmental Disorders
Volume45
Issue number1
DOIs
StatePublished - Jan 2014

Bibliographical note

Publisher Copyright:
© 2014, Springer Science+Business Media New York.

Keywords

  • Biomarkers
  • Comorbidities
  • Endophenotypes
  • Genetic analyses
  • Phenotypic subgroups
  • Phenotyping

ASJC Scopus subject areas

  • Developmental and Educational Psychology

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