No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder

2011 ◽  
Vol 156 (6) ◽  
pp. 633-639 ◽  
Author(s):  
Sarah Curran ◽  
Patrick Bolton ◽  
Kinga Rozsnyai ◽  
Andreas Chiocchetti ◽  
Sabine M. Klauck ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Single Nucleotide Polymorphism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Common Single Nucleotide Polymorphism

scholarly journals DRD3 gene and striatum in autism spectrum disorder

2015 ◽  
Vol 206 (5) ◽  
pp. 431-432 ◽  
Author(s):  
Wouter G. Staal ◽  
Marieke Langen ◽  
Sarai van Dijk ◽  
Vincent T. Mensen ◽  
Sarah Durston
Keyword(s):  
Autism Spectrum Disorder ◽  
Single Nucleotide Polymorphism ◽  
Caudate Nucleus ◽  
Autism Spectrum ◽  
Stereotyped Behaviour ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Drd3 Gene ◽  
Spectrum Disorders ◽  
Nucleus Volume

SummaryA single-nucleotide polymorphism (SNP) of the DRD3 gene (rs167771) was recently associated with autism spectrum disorders (ASD). Different polymorphisms of rs167771 corresponded to varying degrees of stereotyped behaviour. As DRD3 receptors are relatively overexpressed in the striatum, we investigated whether striatal volume was related to these polymorphisms in autism. We assessed volumes of caudate nucleus and putamen in 86 participants with ASD (mean age 15.3 years). MANCOVA showed an association between alleles of the rs167771 SNP and the volume of striatal structures. Furthermore, greater caudate nucleus volume correlated with stereotyped behaviour. These findings support a relationship between DRD3 gene SNPs, striatum and stereotyped behaviour in ASD.

scholarly journals Mitochondrial localization of the OAS1 p46 isoform associated with a common single nucleotide polymorphism

2014 ◽  
Vol 15 (1) ◽  
pp. 33 ◽  
Author(s):  
Karina Kjær ◽  
Jytte Pahus ◽  
Mariann Hansen ◽  
Jesper Poulsen ◽  
Erik Christensen ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Mitochondrial Localization ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Common Single Nucleotide Polymorphism
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