A novel framework leveraging non-causal associations reveals shared pathways linking inflammation and cancer risk
James YarmolinskyiD, Francesca R Cavallo, Fotios KoskeridisiD, Xinzhu YuiD, Emmanouil BourasiD, George Richenberg, Ilaria CostantiniiD, Devleena RayiD, Benjamin Woolf, Ville KarhuneniD, Leila Ellis, Philip HaycockiD, Gibran HemaniiD, George Davey SmithiD, Konstantinos K. TsilidisiD, Verena ZuberiD, James McKayiD, Abbas DehghaniD, Ioanna TzoulakiiD
Abstract
Confounding is a central challenge in observational studies. Here, we propose a framework for identifying confounders of two non-causally related traits by employing cross-trait pleiotropy analysis to detect genetic loci that affect both traits and multi-trait colocalisation to identify molecular phenotypes mediating these effects. We apply this approach to the analysis of C-reactive protein (CRP) - a non-specific marker of inflammation - and 10 inflammation-related cancers. In UK Biobank, higher pre-diagnostic CRP levels are associated with increased risk of multiple cancers, but bidirectional Mendelian randomization provides little evidence for a causal relationship. Cross-trait genetic analyses identify 92 loci with shared CRP-cancer effects including those with established roles in cancer and 50 novel loci such as RSPO3 (breast cancer) and GCKR (colorectal cancer). Integration with proteomic and single-cell transcriptomic data identified putative molecular mediators at 24 loci including plasma TLR1 levels in breast cancer and CD4+ T cell IRF5 expression in kidney cancer. Notably, 15 candidate effector genes encode targets of approved or investigational medications, including IL6, PDE4D, and CASP8, indicating potential opportunities for their repurposing for cancer prevention. The proposed approach provides a generalisable framework for leveraging non-causal phenotypic relationships to yield insights into disease mechanisms and therapeutic targets for disease prevention.
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