How genetics shape blood proteins during development from childhood to adolescence microbiologystudy

Blood proteins serve as crucial indicators of health and disease risk throughout development. Now, researchers at the University of Copenhagen and the Max Planck Institute of Biochemistry have revealed how these proteins are regulated during childhood and adolescence, providing a vital foundation for understanding disease mechanisms and developing better diagnostic tools.

A study of more than 3,000 children and adolescents in Denmark has revealed how blood protein levels change by genetic variants and during pediatric development. The research was led by Professor Matthias Mann at the Max Planck Institute of Biochemistry and Novo Nordisk Foundation Center for Protein Research, together with Professors Torben Hansen and Simon Rasmussen at University of Copenhagen.

Their findings, published in Nature Genetics, establish a foundation for understanding how protein changes signal health and disease risk during childhood.

Using advanced mass spectrometry technology, the researchers measured more than 1,200 different proteins in blood samples from more than 2,100 children and adolescents aged 5–20 years. They discovered that the levels of 70% of these proteins were influenced by factors including age, sex, body mass index, and genetics.

“Plasma protein levels are influenced by various factors, but the degree of their influence varies from protein to protein. By breaking down the sources of variation, we found that some proteins are primarily driven by genetics, while others are more affected by other factors such as age or obesity. This helps explain why children develop differently and why some are more susceptible to certain diseases than others,” explains Dr. Lili Niu, first author of the study.

The researchers uncovered striking differences in how proteins change during male and female puberty. “These sex-specific protein trajectories could help explain differences in development and disease susceptibility between males and females,” says Professor Hansen from the University of Copenhagen.

The study found that genes control the levels of one-third of blood proteins, with some genetic variants causing up to 30-fold differences between individuals. These findings were highly reproducible, replicated in 1,000 children and 558 adults, confirming their persistence into adulthood.

Using advanced statistical methods, the team identified 41 genes that likely cause changes in 33 traits related to heart disease and metabolism. Professor Rasmussen from the University of Copenhagen explains, “By connecting genes to proteins to disease, our findings open new avenues for understanding disease mechanisms and identifying new drug targets.”

To help researchers worldwide use these findings, the team created an interactive web portal at proteomevariation.org where scientists can explore how specific proteins change during childhood.

“This study demonstrates how mass spectrometry-based proteomics is emerging as a powerful tool for large-scale population studies,” concludes Mann. ” Using just a small drop of blood, we can now measure thousands of proteins with unprecedented precision, opening new possibilities for understanding disease mechanisms and discovering biomarkers that could signal disease risk early in life.”

This comprehensive map of protein changes during childhood advances efforts to integrate proteomics into precision medicine. The researchers are now investigating whether these protein patterns could help doctors predict which children might develop certain diseases, and which treatments would work best for them.