Autism‐related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism
Abstract
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. © 2007 Wiley‐Liss, Inc.
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Genetic studies have found positive associations between autism and polymorphisms in glutamate receptors and transporters, including SLC25A12 and GRIK2.
“Genetic studies have found positive associations between autism and a number of polymorphisms in glutamate receptors and transporters including the mitochondrial aspartate-glutamate carrier (SLC25A12) [151] and glutamate receptor, ionotropic kainate 2 (GRIK2) [152, 153].”
From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [151]
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Lack of Association Between Autism and SLC25A12
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- Authors
- Silverman, J. M., Buxbaum, J. D., Ramoz, N., Schmeidler, J., Reichenberg, A., Hollander, E., Angelo, G., Smith, C. J., & Kryzak, L. A.
- Affiliations
- Icahn School of Medicine at Mount Sinai (US)
- Corresponding author
- Silverman, Jeremy M.
- Venue
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
- Publisher
- Wiley
- Published
- 2007-09-25
- Volume
- 147B
- Issue
- 3
- Pages
- 408-410
- ISSN
- 1552-4841 (ISSN-L)
- 1552-485X
- OpenAlex
- W2090724824
- Cited by
- 55
- References
- 12
- Citations by year
- 2024: 1 · 2023: 3 · 2022: 1 · 2021: 3 · 2020: 2 · 2018: 1 · 2017: 4 · 2016: 1 · 2015: 3 · 2014: 2 · 2013: 5 · 2012: 6
- FWCI
- 2.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part B Neuropsychiatric Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Mental Health (MH-066673, U54MH066673)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
- Keywords
- autism spectrum disorder, SLC25A12, mitochondrial aspartate-glutamate carrier, single nucleotide polymorphisms, genetic association, affected siblings
- MeSH terms
- Autistic Disorder, Genotype, Humans, Stereotyped Behavior, Polymorphism, Single Nucleotide, Mitochondrial Proteins, Membrane Transport Proteins, Mitochondrial Membrane Transport Proteins
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