One-third of Greenlanders are genetically at risk for high cholesterol: Study

Cardiovascular disease is the number one cause of death in many people worldwide. It is closely related to elevated levels of low-density lipoprotein (LDL) cholesterol. The uptake of LDL-cholesterol particles from the blood into tissues such as the liver is mediated by the LDL receptor (LDLR). Mutations in the LDLR gene, which encodes this receptor, often cause high levels of cholesterol in the blood.

For the people of Greenland, the incidence of cardiovascular disease is likely to increase in the future due to increasing life expectancy and changing lifestyles. The common Arctic-specific LDLR variant, known as p.G137S, has recently been shown to be associated with elevated cholesterol levels. But until now, it was unclear whether this variant was associated with an increased risk of cardiovascular disease.

In the new study, Jorsboe and his colleagues tested this possibility in a group of 5,063 Greenlanders. Approximately 30% of individuals carry at least one copy of the risk allele p.G137S. Approximately 25% of heterozygotes and 55% of homozygous carriers have high blood levels of LDL cholesterol.


Furthermore, p.G137S is associated with an increased risk of ischemic heart disease, peripheral artery disease, and coronary activity. However, only a low percentage of people with very high LDL cholesterol levels receive cholesterol-lowering treatment. In addition, elevated LDL cholesterol levels of p.G137S carriers were independent of age, suggesting that these individuals would benefit from early intervention and treatment.

“Our results suggest that the p.G137S variant has a greater impact on the lipid structure of Greenlanders than previously reported,” says Jorsboe. “This variation further highlights the importance of performing genetic studies in smaller populations such as the Greenlandic.”

According to the authors, the results suggest that a screening program for the p.G137S variant could be very useful in early identification of individuals at high risk for cardiovascular disease, potentially improving preventive care. and public health.

“We think an intervention study would be of great importance, where one could investigate how cholesterol-lowering drugs improve lipid composition in carriers of this genetic variant,” said Jorsboe. “Identifying optimal treatment and prevention strategies for carriers of this variant is crucial, especially since a third of the Greenlandic population is at risk for the disease.”

Source: Eurekalert

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