ArticleMolecular autism2011
A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders.
Article in Molecular autism, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Mitochondrial Aspartate/Glutamate Carrier SLC25A12 and Autism Spectrum Disorder: a Meta-Analysis.Molecular neurobiology · 2016Pooled it
- A pilot study on glutamate receptor and carrier gene variants and risk of childhood autism spectrum.Metabolic brain disease · 2023Article
- Research into the Association of Cadmium and Manganese Excretion with Thyroid Function and Behavioral Areas in Adolescents with Autism Spectrum Disorders.Journal of clinical medicine · 2022Article
- Genomic selection signatures in autism spectrum disorder identifies cognitive genomic tradeoff and its relevance in paradoxical phenotypes of deficits versus potentialities.Scientific reports · 2021Article
- Protein Biomarkers of Autism Spectrum Disorder Identified by Computational and Experimental Methods.Frontiers in psychiatry · 2021Article
- The neural circuitry of restricted repetitive behavior: Magnetic resonance imaging in neurodevelopmental disorders and animal models.Neuroscience and biobehavioral reviews · 2018Review
- Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex.Journal of neurodevelopmental disorders · 2018Article
- Metabolic Dysfunction Underlying Autism Spectrum Disorder and Potential Treatment Approaches.Frontiers in molecular neuroscience · 2017Review
- Bio-collections in autism research.Molecular autism · 2017Review
- No association of the norepinephrine transporter gene (SLC6A2) and cognitive and behavioural phenotypes of patients with autism spectrum disorder.European archives of psychiatry and clinical neuroscience · 2014Article
- Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome.Molecular autism · 2014Article
- Assessment of infantile mineral imbalances in autism spectrum disorders (ASDs).International journal of environmental research and public health · 2013Review
- Channelopathy pathogenesis in autism spectrum disorders.Frontiers in genetics · 2013Review
- One thing leads to another: the cascade of obligations when researchers report genetic research results to study participants.European journal of human genetics : EJHG · 2012Article
- Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci.Molecular autism · 2012Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundSLC25A12 was previously identified by a linkage-directed association analysis in autism. In this study, we investigated the relationship between three SLC25A12 single nucleotide polymorphisms (SNPs) (rs2056202, rs908670 and rs2292813) and restricted repetitive behavior (RRB) traits in autism spectrum disorders (ASDs), based on a positive correlation between the G allele of rs2056202 and an RRB subdomain score on the Autism Diagnostic Interview-Revised (ADI-R).
methodsWe used the Repetitive Behavior Scale-Revised (RBS-R) as a quantitative RRB measure, and conducted linear regression analyses for individual SNPs and a previously identified haplotype (rs2056202-rs2292813). We examined associations in our University of Illinois at Chicago-University of Florida (UIC-UF) sample (179 unrelated individuals with an ASD), and then attempted to replicate our findings in the Simons Simplex Collection (SSC) sample (720 ASD families).
resultsIn the UIC-UF sample, three RBS-R scores (ritualistic, sameness, sum) had positive associations with the A allele of rs2292813 (p = 0.006-0.012) and with the rs2056202-rs2292813 haplotype (omnibus test, p = 0.025-0.040). The SSC sample had positive associations between the A allele of rs2056202 and four RBS-R scores (stereotyped, sameness, restricted, sum) (p = 0.006-0.010), between the A allele of rs908670 and three RBS-R scores (stereotyped, self-injurious, sum) (p = 0.003-0.015), and between the rs2056202-rs2292813 haplotype and six RBS-R scores (stereotyped, self-injurious, compulsive, sameness, restricted, sum)(omnibus test, p = 0.002-0.028). Taken together, the A alleles of rs2056202 and rs2292813 were consistently and positively associated with RRB traits in both the UIC-UF and SSC samples, but the most significant SNP with phenotype association varied in each dataset.
conclusionsThis study confirmed an association between SLC25A12 and RRB traits in ASDs, but the direction of the association was different from that in the initial study. This could be due to the examined SLC25A12 SNPs being in linkage disequilibrium with another risk allele, and/or genetic/phenotypic heterogeneity of the ASD samples across studies.
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.