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Mol Neurobiol. 2016 Apr;53(3):1579-1588. doi: 10.1007/s12035-015-9116-3. Epub 2015 Feb 10.

Mitochondrial Aspartate/Glutamate Carrier SLC25A12 and Autism Spectrum Disorder: a Meta-Analysis.

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Department of Neuropsychiatry, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
Developmental Brain-Behaviour Laboratory, Psychology, University of Southampton, Southampton, UK.
School of Medicine, University of Nottingham, UK and the Centre for ADHD and Neurodevelopmental Disorders Across the Lifespan, Institute of Mental Health, University of Nottingham, Nottingham, UK.
New York University Child Study Center, New York, NY, USA.


Mitochondrial dysfunction has been reported to be involved in the pathophysiology of autism spectrum disorder (ASD). Studies investigating the possible association between ASD and polymorphism in SLC25A12, which encodes the mitochondrial aspartate/glutamate carrier, have yielded inconsistent results. We conducted a systematic review and meta-analysis of such studies to elucidate if and which SLC25A12 single nucleotide polymorphisms (SNPs) are associated with ASD. We searched PubMed, Ovid, Web of Science, and ERIC databases through September 20th, 2014. Odds ratios (ORs) were aggregated using random effect models. Sensitivity analyses were conducted based on study design (family-based or case-control). Fifteen out of 79 non-duplicate records were retained for qualitative synthesis. We pooled 10 datasets from 9 studies with 2001 families, 735 individuals with ASD and 632 typically developing (TD) individuals for the meta-analysis of rs2292813, as well as 11 datasets from 10 studies with 2016 families, 852 individuals with ASD and 1058 TD individuals for the meta-analysis of rs2056202. We found a statistically significant association between ASD and variant in rs2292813 (OR = 1.190, 95% CI 1.052-1.346, P = 0.006) as well as in rs2056202 (OR = 1.206, 95% CI 1.035-1.405, P = 0.016). Sensitivity analyses including only studies with family-based design demonstrated significant association between ASD and polymorphism in rs2292813 (OR = 1.216, 95% CI 1.075-1.376, P = 0.002) and rs2056202 (OR = 1.267, 95% CI 1.041-1.542, P = 0.018). In contrast, sensitivity analyses including case-control design studies only failed to find a significant association. Further research on the role of SLC25A12 and ASD may pave the way for potential innovative therapeutic interventions.


Asperger; FBAT; Genetics; NAA; Pervasive developmental disorder; TDT

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