Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample.

Authors: Kantojarvi, K  Onkamo, P  Vanhala, R  Alen, R  Hedman, M  Sajantila, A  Nieminen-von Wendt, T  Jarvela, I 
Citation: Kantojarvi K, etal., Psychiatr Genet. 2010 Jun;20(3):102-8. doi: 10.1097/YPG.0b013e32833a2080.
Pubmed: (View Article at PubMed) PMID:20410850
DOI: Full-text: DOI:10.1097/YPG.0b013e32833a2080

OBJECTIVE: Autism spectrum disorders (ASD) often show obsessive repetitive symptoms that are characteristic to obsessive-compulsive disorder (OCD). Aberrant glutamate function has been suggested to a risk for both ASDs and OCD. Considering the common metabolic pathway and recent results from association studies both in OCD and ASDs, a question, whether there is common molecular background in ASDs and OCD, was raised. METHODS: Ten single nucleotide polymorphisms (SNPs) at 9p24 and 11p12-p13 containing glutamate transporter genes SLC1A1 and SLC1A2 and their neighboring regions in 175 patients with ASDs and 216 controls of Finnish origin were analyzed using real-time-PCR or direct sequencing. RESULTS: The strongest association was detected with rs1340513 in the JMJD2C gene at 9p24.1 (P=0.007; corrected P=0.011) that is the same SNP associated with infantile autism (P=0.0007) in the autism genome project consortium (2007). No association was detected at 11p12-p13 with ASD. Interestingly, the strongest association in OCD has been found at rs301443 (P=0.000067) residing between SLC1A1 and JMJD2C at 9p24. CONCLUSION: In summary, our results give evidence for a possible common locus for OCD and ASDs at 9p24. We speculate that the area may represent a special candidate region for obsessive repetitive symptoms in ASDs.


Disease Annotations
Phenotype Annotations
Objects Annotated

Additional Information

RGD Object Information
RGD ID: 9587484
Created: 2014-10-15
Species: All species
Last Modified: 2014-10-15
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.