Researchers map genetics of blood lipids with unprecedented precision

by German Center for Neurodegenerative Diseases

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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 has 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 are published in 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."

Data from Germany and Finland

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 (GWAS), through which the researchers were able to identify links between features of the genome and more than 900 different lipids.

Significance for aging and health

"We identified numerous previously unknown genes that affect lipids in the body. This is relevant because some of these molecules are associated with aging processes or with serious diseases, including cardiovascular disorders, type 2 diabetes, and neurodegenerative conditions such as Alzheimer's," says Prof. Dr. Dr. Monique Breteler, head of the Rhineland Study and Director of Population Health Sciences at DZNE.

"If we can precisely characterize the relationships between genetics and lipids, we can also gain a better understanding of how diseases arise. Such insights could help improve the assessment of disease risks, support the development of new diagnostics, and enable more efficient therapies."

Publication details

Elvire N. Landstra et al, Population-based genome-wide association study of plasma complex lipid species, Nature Communications (2026). DOI: 10.1038/s41467-026-72542-1

Journal information: Nature Communications

Key medical concepts

blood lipidGenome-Wide Association StudyAlzheimer's DiseaseCardiovascular DiseasesDiabetes Type 2

Clinical categories

Clinical geneticsHealthy agingCommon illnesses & Prevention Provided by German Center for Neurodegenerative Diseases Who's behind this story?

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