Institute of Genetics and Cancer

Genetic and Epigenetic Biomarkers of Protein Level in Neurological Disorders

Centre for Genomic and Experimental Medicine scientists identify genetic and epigenetic biomarkers associated with neurological disorders. July 2019


Neurological disorders represent a major global health burden and severely compromise quality of life for millions of people worldwide. Changes in the levels and function of certain proteins within the blood are associated with the development of neurological diseases. However, the reasons why these changes in protein profiles occur are poorly understood.

Work published in the journal Nature Communications ( by Riccardo Marioni’s lab from the Centre for Genomic and Experimental Medicine has identified biomarkers associated with these protein levels.  The study aimed to identify how differences in DNA (genetics) and chemical additions to the DNA (epigenetics) that turn genes on and off associate with the levels of 92 neurology-related blood proteins in healthy older adults.

The study utilised data from the Lothian Birth Cohort of 1936, a cohort that includes people born in 1936 who undertook a test of mental ability at age 11. They were living in the Edinburgh and Lothian region in later-life, and agreed to undertake further investigations and examinations, the results of which have been analysed for research into ageing.

The team identified over 41 independent genetic and 20 epigenetic sites that were associated with levels of neurological proteins. These sites were located in genes that are known to be important in immune and developmental processes suggesting possible pathways relevant to the disease processes.  The data also suggested that blood levels of an immune-related protein, poliovirus receptor, are causally associated with risk of Alzheimer’s disease.

These results help us to understand why we observe individual differences in protein levels that are important for brain health. They may explain why some individuals are at greater risk of developing neurodegenerative diseases and point towards the underlying disease mechanisms.

Robert HillaryPhD Student, Marioni Group


Read the paper on the Nature Communications website 

Riccardo Marioni's group website