The Combination of Genome-wide and Proteome-wide Screening
In clinical application or research purpose, plasma screening has been widely used due to its easy accessibility, so as mass spectrometry. Nowadays, gene variants are easy to identify, however theses phenotypes that link to those variants are not easy.
Using mass spectrometry, researchers analyzed hundrands of plasma samples from the offspring of two different inbred mouse strains which could allow them effectively distinguish proteins based on their molecular weight differences. The resulting protein phenotypes of all 455 F2 mice were associated with 177 genetic markers evenly distributed over the mouse genome. This led to the identification of genetically regulated plasma proteins. The strongest two associations were with the genes encoding hemoglobin and apolipoprotein 2. The responsible genetic variants were identified in additional functional experiments.
For the first time, scientists combined genomic and proteomic analysis of blood plasma to enhance identification of genetically regulated protein traits, for instance, molecular disease mechanisms. This could be applied to any large association study of civilization diseases where blood plasma has been collected, vastly improving a clinician's ability to identify disease susceptibility in individuals and populations.
This study pioneers a promising approach to identify novel disease-associated proteins, which could provide novel diagnostic or therapeutic targets of disease. This study goes a long way to opening up that bottleneck. The high-throughput screening the here described holds tremendous promise for finding diagnostic markers and therapeutic targets of disease, some scientists said.
Tags: Mass Spectrometry, Plasma Screening, Novel Method