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Genetic clue to causes of depression revealed in major study

Feb 2017: Professor Andrew McIntosh and colleagues have published research that implicates variants in the TOX2 gene in depression.

A team of CCBS scientists led by Professor Andrew McIntosh have identified a gene that may be linked to depression.

The researchers used a technique called Regional Heritability Mapping (RHM) to determine that variants in the gene, called TOX2, are associated with a diagnosis of depression. RHM can detect small contributions from rare genetic differences that combine to have a large effect, as is likely to be the case in complex diseases like depression.

The team investigated samples provided by Generation Scotland: The Scottish Family Health Study, a resource bank of health data and tissue donated by volunteers. Clinical information about depression and tissue samples from almost 20,000 individuals were included in the analysis. Their findings were then confirmed by replicating the results using other large resource banks of genetic and medical data from volunteers.

The symptoms of depression – which affects 350 million people worldwide – include low mood and low self-worth, and can have debilitating long-term effects. Relatively little is known about how specific genes affect the onset of depression, and it is thought that many genes could each play a part.

This new discovery is very encouraging for the study of depression, which affects about one in eight people in Scotland and is a major cause of disability and poor health. The new methods give us novel tools for investigating depression, which has been very difficult to study using standard genetic techniques.”

Andrew McIntoshProfessor of Biology Psychiatry, Centre for Clinical Brain Sciences, University of Edinburgh

The study, published in the journal Biological Psychiatry, was carried out in collaboration with groups from across Europe and Australia, and funded by the Wellcome Trust.

Related links

Read the article in Biological Psychiatry: Genome-wide Regional Heritability Mapping Identifies a Locus Within the TOX2 Gene Associated With Major Depressive Disorder. http://dx.doi.org/10.1016/j.biopsych.2016.12.012

Professor Andrew McIntosh Principal Investigator profile

Complex trait genetics research in CCBS