lungs with smoke

By Sam LaBrie

Developing precision medicines for COPD is an important goal, as the disease is the third most common cause of death in the developed world and there are relatively few effective therapies. A recent study published in PLOS, Common Genetic Polymorphisms Influence Blood Biomarkers Measurements in COPD, explores the massive datasets from two cohorts, SPIROMICS and COPDGene, in a search for biomarkers linked to various aspects of COPD. Scientists combined single nucleotide polymorphisms (SNPs) and a custom MAP (Multi-Analyte Profile) of Myriad RBM’s serum biomarker assays to identify protein quantitative trait loci (pQTLs), i.e. genetic features that are correlated with variations in protein expression).

Data analysis revealed 527 SNPs that are associated with 38 protein biomarkers (pQTLs). For 13 of these proteins, the pQTL could explain >10% of the variation in expression levels seen in the 2 cohorts, with the strongest influence being ~75% of the change in expression of vitamin D binding protein. Several of the pQTLs show significant associations with disease phenotypes, including the pQTL linked to sRAGE, which has been previously associated with emphysema. A striking finding was that SNPs in the ABO blood group region of the genome are strongly associated with many protein biomarker levels. Interestingly, the ABO blood group and COPD have been linked in earlier studies, confirming that ABO status should be taken into consideration for future COPD studies.

The authors conclude that multi-omics studies like this one are important for understanding complex diseases like COPD.