Genome Wide Copy Number Variations and ET

Principal Investigator: Guy Rouleau, M.D., Ph.D., FRCPC
Montreal Neurological Institute and Hospital

Like many other common human diseases and traits, ET is known to cluster in families and it is believed to be influenced by several genetic and environmental factors. Overall genetic variants that are associated, or the cause, of ET have been sought for over a decade but the involvement of an emerging class of genetic variant that is collectively referred to as “Copy Number Variants” (CNVs) has not yet been properly examined in familial ET.

CNVs are a class of structural variations that defines alterations in the number of copies of specific regions of DNA, which can either be deleted or duplicated. Recent studies have indicated that CNVs are both widespread in the human genome and a major contribution to the genome variability among individuals; these alterations may have no visible effect, account for population diversity or can contribute to susceptibility to certain diseases. CNVs have recently been implicated in predisposition to complex neurological diseases, such as schizophrenia, autism, and Alzheimer’s disease.

Given the highly heritable nature of ET, we hypothesize that individually rare and inherited CNVs might contribute to disease risk in ET. In order to test this, the team of Dr. Rouleau proposes to use a high-density SNPs genotyping array to test for the disease segregation of rare inherited CNVs in a cohort of 13 well-defined ET families. Overall, understanding genetic basis may contribute to better prevention, diagnosis, and treatment of the disease.