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26 September 2019

Genetic risk factors of high cholesterol differ between countries

Some genetic factors that predict risk of high cholesterol don’t apply to people from Uganda the same as they do in European populations, finds a new study.


The research, published in Nature Communications, adds to evidence that genetic research involved in drug development and risk prediction testing might not apply equally to non-European populations.

The study, led by UCL, investigated the known genetic variants that affect blood fat levels, a major cardiovascular risk factor, to test whether they applied to different groups in the UK, Greece, China, Japan and Uganda.

The team of researchers, including Dr Anders Eriksson, Department of Medical & Molecular Genetics, found that the results were broadly consistent across European and Asian groups, with about three quarters of genetic markers applied similarly across the different groups, but only 10% of the genetic markers for triglycerides (the most common type of fat in the body) were implicated in the same cardiovascular risk factors among people from Uganda.

“Genome-wide association studies have revolutionised our understanding of the roles of genes and environmental factors in important human traits and diseases, and they have paved the way for personalised medicine. But because most of these studies have had participants with similar, European descent, there is a growing concern that the findings from these studies may not apply equally to populations with people of diverse backgrounds.” Dr Anders Eriksson, Department of Medical & Molecular Genetics

We investigated the genetic link to blood fat levels, important risk factors for cardiovascular diseases, in different populations. We found that the link is similar across Eurasia, but that associations found in European populations work poorly in the Ugandan population, partly because of differences between populations in how genes interact with diet and other environmental aspects.

Dr Anders Eriksson

The researchers point out that even if genetics are nearly universal, environments are more variable, and some genes may have different, undiscovered effects in different environments. Genes predicting high cholesterol may not be risky for people with diets and lifestyles typical of rural Uganda.

“Our findings should serve as a major warning of caution to the field of genetics research – you cannot blindly apply findings from ancestrally European study groups to everyone else,” said the study’s lead author, Dr Karoline Kuchenbaecker (UCL Genetics Institute and UCL Psychiatry).

 “We need to ensure that diverse groups are represented in research before proceeding with developing new tests or treatments – otherwise, the consequence will be a very unfair NHS where some new drugs and genetic tests are only suitable for people of European descent."

The study was funded by Wellcome and the European Research Council. Genetic data came from the African Partnership for Chronic Disease Research – Uganda, China Kadoorie Biobank, the Hellenic Isolated Cohorts, and the UK Household Longitudinal Study, alongside summary statistics from Biobank Japan and the Global Lipid Genetics Consortium.

Read the full article here. 

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