23 September 2020
Scores of genes linked to lipid levels
Published online 22 October 2013
An international team of scientists has identified 157 alterations to human DNA that can affect lipids, such as cholesterol, in the bloodstream, publishing their results in Nature Genetics1.
The findings are based on genetic and clinical information amassed from nearly 190,000 individuals of European, East Asian, South Asian and African ancestry. Of the 157 changes to DNA, 62 had not been previously linked to levels of blood lipids. Several of these variations were also linked to type 2 diabetes, coronary artery disease, high blood pressure and obesity.
In total, the identified changes increase the number of genetic variants related to blood fats by more than a third.
The research team — the Global Lipids Genetics Consortium — used computational and statistical techniques to search for genetic factors that influence blood lipid levels. A custom DNA analysis chip partly designed by the researchers was instrumental to the study, allowing a genome-wide association study to be performed on a larger scale than previously possible.
Further analysis of the dataset found that genetic variations that increase levels of triglyceride or low-density lipoprotein cholesterol (LDL-C) may play a more significant role in cardiovascular disease than previously thought2. It also cast doubt on whether levels of high-density lipoprotein cholesterol (HDL-C) — better known as good cholesterol — directly influence risk of heart disease.
Researchers will continue to mine this vast throve of genetic data for networks of genes to better understand the functions of some of the more obscure genes involved. It is also hoped these findings can help develop animal models of heart disease and hasten the search for new drugs.