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http://purl.uniprot.org/citations/20410850http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/20410850http://www.w3.org/2000/01/rdf-schema#comment"

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."xsd:string
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http://purl.uniprot.org/citations/20410850http://purl.uniprot.org/core/author"Sajantila A."xsd:string
http://purl.uniprot.org/citations/20410850http://purl.uniprot.org/core/author"Alen R."xsd:string
http://purl.uniprot.org/citations/20410850http://purl.uniprot.org/core/author"Jarvela I."xsd:string
http://purl.uniprot.org/citations/20410850http://purl.uniprot.org/core/author"Vanhala R."xsd:string
http://purl.uniprot.org/citations/20410850http://purl.uniprot.org/core/author"Onkamo P."xsd:string
http://purl.uniprot.org/citations/20410850http://purl.uniprot.org/core/author"Hedman M."xsd:string
http://purl.uniprot.org/citations/20410850http://purl.uniprot.org/core/author"Nieminen-von Wendt T."xsd:string
http://purl.uniprot.org/citations/20410850http://purl.uniprot.org/core/author"Kantojarvi K."xsd:string
http://purl.uniprot.org/citations/20410850http://purl.uniprot.org/core/date"2010"xsd:gYear
http://purl.uniprot.org/citations/20410850http://purl.uniprot.org/core/name"Psychiatr Genet"xsd:string
http://purl.uniprot.org/citations/20410850http://purl.uniprot.org/core/pages"102-108"xsd:string
http://purl.uniprot.org/citations/20410850http://purl.uniprot.org/core/title"Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample."xsd:string
http://purl.uniprot.org/citations/20410850http://purl.uniprot.org/core/volume"20"xsd:string
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