Researchers have created the first detailed genetic map of human proteins, the key building blocks of biology. These discoveries promise to enhance our understanding of a wide range of diseases and aid development of new drugs. The study was published in the journal Nature.
They characterized the genetic underpinnings of the human plasma 'proteome', identifying nearly 2,000 genetic associations with almost 1,500 proteins. Previously, there was only a small fraction of this knowledge, mainly because researchers could measure only a few blood proteins simultaneously in a robust manner.
The researchers used a new technology ("SOMAscan") developed by a company, SomaLogic, to measure 3,600 proteins in the blood of 3,300 people. They then analyzed the DNA of these individuals to see which regions of their genomes were associated with protein levels, yielding a four-fold increase on previous knowledge.
Compared to genes, proteins have been relatively understudied in human blood, even though they are the 'effectors' of human biology, are disrupted in many diseases, and are the targets of most medicines. Novel technologies are now allowing us to start addressing this gap in our knowledge. One of the uses for this genetic map is to identify particular biological pathways that cause disease, exemplified in the paper by pinpointing specific pathways that lead to Crohn's disease and eczema.
In some cases, the researchers identified multiple genetic variants influencing levels of a protein. By combining these variants into a 'score' for that protein, they were able to identify new associations between proteins and disease.
Although our DNA provides our blueprint, it is the variations in the structure, function and amount of the proteins encoded by our genes which determine our susceptibility to disease and our response to medicines. This study provides exciting new insight into how our genetic make-up controls proteins in the blood and open up opportunities for developing new treatments for heart and circulatory disease.