Cardiovascular Risk Factors / Diagnostics Industry / Disease States

Apolipoprotein (ApoE) gene variant more common in Africans than previously thought

ApoE gene variant thought to be more common in Africans and African descendants than previously thoughtWeill Cornell Medical College researchers have discovered that the Apolipoprotein (ApoE) gene variant associated with increased triglyceride levels – fats in the blood linked to heart disease, obesity, stroke and type 2 diabetes – is much more common than previously thought and affects people of African descent disproportionally.

This offers some explanation as to why Africans and people of African descent have an increased risk of cardiovascular disease and type 2 diabetes when compared to other populations. In the study, African Americans with the variant had 52% higher triglyceride levels compared with blacks in the study who did not have the variant.

Dr Ronald G. Crystal, the study’s senior author, said “The prevalence of the Apolipoprotein (ApoE) mutation may put large numbers of Africans and African descendants worldwide at risk for a triglyceride-linked disorder…But we don’t yet know the extent of that risk or its health consequences”.

Just because a person has inherited this gene, it does not mean they will get heart disease or diabetes. It increases risk. Screening for cholesterol and triglyceride levels in the blood and maintaining a healthy lifestyle is vital. Many other factors play a role in these diseases, this gene variant is but one part of this.

Dr Crystal said “Based on our findings, we estimate that there could be 1.7 million African Americans in the United States and 36 million sub-Saharan Africans worldwide with the variant, which increases risk of the lipid disorder, and to some unknown extent, the diseases associated with it.”

Scientists believed that more than 95% of the world’s population has one of three common ApoE variants – 2, 3 or 4. The remainder have one of 38 rare ApoE mutations, one of which was the variant in this study – R145C. Only 32 instances of this gene have been reported in scientific literature since its discovery three decades ago, Dr Crystal says. “This Apolipoprotein (ApoE) variant was believed to be so extremely rare that no one paid much attention to it,” he says.

The study looked at the genetics of Qatari natives – people who have lived in the country for three generations or more. The population was made up of three genetic groups – Arab, Persian and sub-Saharan African, making a total of 228 participants.

Surprisingly, it was found that 17% of the African derived genetic group had the ApoE variant. No one in the Arab or Persian groups had the variant.

The study was widened to include participants in the worldwide 1000 Genomes Project. From this, it was found that the variant is practically non-existent in non-African populations but it is common among African-derived populations – occurring 5-12% of the time – and especially in those from sub-Sahara.


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