Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism

Jeremy M. Silverman, Joseph D. Buxbaum, Nicolas Ramoz, James Schmeidler, Abraham Reichenberg, Eric Hollander, Gary Angelo, Christopher J. Smith, Lauren A. Kryzak

Research output: Contribution to journalArticlepeer-review

44 Scopus citations


Evidence for a genetic association between autism and two single nucleotide polymorphisms (SNPs), rs2056202 and rs2292813, in the mitochondrial aspartate/glutamate carrier (SLC25A12) gene led us to ask whether any of the four previously identified familial traits in autism spectrum disorders (ASD) varied by these SNPs. In 355 ASD cases from 170 sibships we examined levels of the four traits in these SNPs using ANCOVA models. The primary models selected unrelated affected cases and used age and sex as covariates. An ancillary set of models used all affected siblings and included "sibship" as a random effects independent variable. We found significantly lower levels of routines and rituals associated with the presence of the less frequent A allele in rs2056206. No other significant differences were observed. The rs2056202 polymorphism may be associated with levels of routines and rituals in autism and related disorders.

Original languageEnglish (US)
Pages (from-to)408-410
Number of pages3
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Issue number3
StatePublished - Apr 5 2008
Externally publishedYes


  • Autism spectrum disorders
  • Familial traits
  • Repetitive behaviors

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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