Functional Impact of An ADHD-Associated DIRAS2 Promoter Polymorphism.

ABSTRACT: The DIRAS2 gene is coding for a small Ras GTPase with so far unknown function. In a previous study, we described the association of DIRAS2 rs1412005, as well as a haplotype containing this polymorphism and located in the promoter region of this gene with attention-deficit/hyperactivity disorder (ADHD). In the present study, we searched for rare variants within or near the DIRAS2 gene that might be associated with ADHD using next-generation sequencing. As we were not able to detect any rare variants associated with the disease, we sought to establish a functional role of DIRAS2 rs1412005 on the molecular or systems level. First, we investigated whether it has an influence on gene expression by means of a luciferase-based promoter assay. We could demonstrate that the minor risk allele goes a

SUBMITTER: Grunewald L 

PROVIDER: S-EPMC5101550 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature