Genome-wide search for genes conferring risk of TS (WP1)

Objectives: 1. Identification of SNPs associated with TS. 2. Identification of CNVs associating with TS. 3. Characterization/phenotypic stamp conferred by associated variants. 4. Identification of biological pathways conferring risk for TS.

Fellow ESR1    
Host institution: deCODE    
Duration: 36 months    
Supervisor: A. Helgadottir, deCODE; Co-supervisor: P. Paschou, DUTH; Host Company: deCODE

Tasks and methodology: Genetic variants associating with diseases affecting reproductive fitness have been particularly difficult to uncover and only a small fraction of the heritability for autism, schizophrenia, ADHD and TS has been explained. These disorders all affect fecundity of those afflicted, causative variants may be kept at low frequency and maintained by high de novo mutation frequency rate. The few high-risk variants associated with these disorders, in particular recurrent CNVs, are highly pleiotropic. Of 45 recurrent CNVs studied by deCODE one third has been associated with psychiatric disorders. Through the EU funded NewMeds project deCODE has extensively phenotyped subjects carrying CNVs under negative selection pressure. The phenotyping includes a battery of neuropsychological tests, MRI, anthropometric measurements as well as questionnaires on health, diseases, use of drugs/meds and lifestyle. In total 1,500 subjects, CNV carriers and controls have been phenotyped. This resource, the 100,000 chip typed samples, into which over 20,000,000 SNPs from the Icelandic sequencing project have been imputed, will be mined by the ESR.

  • Task 1. A genome-wide search for TS variants: deCODE will search genome-wide for variants conferring risk of TS. This includes a search for common and rare variants in more than 500 chip typed subjects diagnosed with TS.
  • Task 2. A genome wide search for CNVs associating with TS: In line with Task 1 deCODE will search for CNVs conferring risk of TS. Variants under negative selection pressure in the Icelandic population will be in particular focus.
  • Task 3. Phenotypic stamp of TS variants: Variants associated with TS through Task 1 and Task 2 will be tested for association with related diseases as well as performance on neuropsychological tests.
  • Task 4. Search for biological pathways conferring risk of TS: The ESR at deCODE and through a secondement at DUTH, will study how implicated variants may lead to alteration of gene-expression pathways trough analysis of already generated expression cohorts.




Home The Training Programme Projects Genome-wide search for genes conferring risk of TS (WP1)

Contact Us

Feel free to contact us for any comments or questions you might have.