Researchers uncover new genetic links influencing blood lipid composition

DZNE researchers have generated new insights into how the human genome shapes the chemical composition and concentration of blood lipids. Across the genome, they identified more than 50 regions whose relevance to lipid metabolism was not been known before. The findings are based on blood samples from more than 8,000 individuals and may provide a better understanding of aging processes and pathological conditions like Alzheimer's disease, diabetes, and cardiovascular dysfunctions. The results have been published in the scientific journal Nature Communications. They are based on samples from the Rhineland Study, a population-based study in Bonn, Germany, and additional study data.

Fatty molecules, also called "lipids", occur in the human body in a vast number of forms. They serve not only as structural components, for instance in cell membranes, but also participate in metabolism and in particular in signaling pathways. "Lipids are much more than the 'good' and 'bad' cholesterol we often hear about. In fact, thousands of different lipids circulate in our bodies. Some of them are presumed to play an important role in aging and in the development of diseases. This is a complex molecular world. Yet the genetic basis of many lipids remains poorly understood," says Dr. Mohammed Aslam Imtiaz, a postdoctoral fellow at DZNE who investigates how genetic factors affect human health. "We have now been able to untangle this complex situation to some extent. To our knowledge, this is the most detailed study of lipid genetics to date."

Dr. Elvire Landstra, who was also closely involved in the current study and is now a researcher in the Netherlands, adds: "The blueprints for lipids are not stored in the genome, but the blueprints for proteins and regulatory molecules that create the diversity of lipids are. This includes enzymes, so-called lipid transfer proteins, and RNAs that control gene expression. We analyzed their genetic background using cutting-edge scientific methods."

The results are based on the analysis of blood samples from more than 6,000 adults from Bonn participating in the Rhineland Study. This DZNE population-based study, designed to run over several decades, investigates how people can age in good health. The results were validated using similar analyses in another population-based study from Brandenburg as well as data from an earlier published study from Finland. In total, the analyzed dataset covered more than 8,000 individuals. A key role in the investigation was played by a bioinformatic approach called "genome-wide association study" or GWAS for short, through which the researchers were able to identify links between features of the genome and more than 900 different lipids.