RGD Reference Report - Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome.

Authors: Durdiaková, Jaroslava  Warrier, Varun  Baron-Cohen, Simon  Chakrabarti, Bhismadev 
Citation: Durdiaková J, etal., Mol Autism. 2014 Mar 31;5(1):25. doi: 10.1186/2040-2392-5-25.
RGD ID: 13628740
Pubmed: PMID:24679184   (View Abstract at PubMed)
PMCID: PMC3973607   (View Article at PubMed Central)
DOI: DOI:10.1186/2040-2392-5-25   (Journal Full-text)


BACKGROUND: Autism Spectrum Conditions (ASC) are a group of developmental conditions which affect communication, social interactions and behaviour. Mitochondrial oxidative dysfunction has been suggested as a mechanism of autism based on the results of multiple genetic association and expression studies. SLC25A12 is a gene encoding a calcium-binding carrier protein that localizes to the mitochondria and is involved in the exchange of aspartate for glutamate in the inner membrane of the mitochondria regulating the cytosolic redox state. rs2056202 SNP in this gene has previously been associated with ASC. SNPs rs6716901 and rs3765166 analysed in this study have not been previously explored in association with AS.
METHODS: We genotyped three SNPs (rs2056202, rs3765166, and rs6716901) in SLC25A12 in n?=?117 individuals with Asperger syndrome (AS) and n?=?426 controls, all of Caucasian ancestry.
RESULTS: rs6716901 showed significant association with AS (P?=?0.008) after correcting for multiple testing. We did not replicate the previously identified association between rs2056202 and AS in our sample. Similarly, rs3765166 (P?=?0.11) showed no significant association with AS.
CONCLUSION: The present study, in combination with previous studies, provides evidence for SLC25A12 as involved in the etiology of AS. Further cellular and molecular studies are required to elucidate the role of this gene in ASC.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SLC25A12HumanAsperger syndrome susceptibilityIAGP DNA:SNP: :rs6716901(human) RGD 
Slc25a12RatAsperger syndrome susceptibilityISOSLC25A12 (Homo sapiens)DNA:SNP: :rs6716901(human) RGD 
Slc25a12MouseAsperger syndrome susceptibilityISOSLC25A12 (Homo sapiens)DNA:SNP: :rs6716901(human) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Slc25a12  (solute carrier family 25 member 12)

Genes (Mus musculus)
Slc25a12  (solute carrier family 25 (mitochondrial carrier, Aralar), member 12)

Genes (Homo sapiens)
SLC25A12  (solute carrier family 25 member 12)


Additional Information