Human genetics
January 8, 2018

Deep molecular phenotypes link complex disorders and physiological insult to CpG methylation

Zaghlool et al. Human Molecular Genetics 2018;27(6):1106–21

This study investigated the molecular pathways connecting potentially regulatory CpG sites to the associated disease or lifestyle factors, researchers conducted a multi-omics association study including 225 NMR-based lipid and metabolite measures in blood.

Results report 138 multi-omics associations at these CpG sites, including diabetes biomarkers at the diabetes-associated TXNIP locus, and smoking-specific metabolites and proteins at multiple smoking-associated loci, including AHRR.