B4354 - Pre-Clinical Atherosclerosis in Children with Polygenic Hypercholesterolaemia - 19/06/2023

B number: 
Principal applicant name: 
Marta Futema | St George's University of London (United Kingdom)
Dr Mahtab Sharifi, Dr Fotios Drenos
Title of project: 
Pre-Clinical Atherosclerosis in Children with Polygenic Hypercholesterolaemia
Proposal summary: 

There are different causes for high cholesterol in the blood. Sometimes, it is because of faulty genes that people inherit from their parents. ‘Polygenic hypercholesterolaemia’ is a condition where the cholesterol is raised because of the combined effect of several faulty genes together. ‘Familial hypercholesterolaemia’ is caused by a severe problem with one gene, rather than many. We know that having high cholesterol could cause heart attack or stroke. In this study we will find out to what extent cholesterol deposits in the neck artery of children with polygenic hypercholesterolaemia and how does it compare to children who have familial hypercholesterolaemia and those who don’t have and cholesterol problems. There are currently no data supporting a treatment of children with polygenic high cholesterol.

Impact of research: 
Currently there is no treatment guidelines or clinical management pathway for children who might be at risk of polygenic hypercholesterolaemia. If our hypothesis is true, that children with high LDL-C genetic risk score (GRS) have an increased CIMT than those with an average and low GRS, this will be of clinical importance providing evidence that those children require medical attention and adding evidence for potential clinical utility of the GRS.
Date proposal received: 
Friday, 16 June, 2023
Date proposal approved: 
Monday, 19 June, 2023
Genetic epidemiology (including association studies and mendelian randomisation), cardiovascular disease, GWAS, Cardiovascular