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@ARTICLE{Bouka:310336,
author = {M. Bouka and K. Nimptsch and T. T. Pham and E. Bouras and
A. Kanellopoulou and A. I. Phipps and B. Van Guelpen and H.
Brenner$^*$ and L. Li and L. Le Marchand and K. K. Tsilidis
and T. Pischon},
title = {{A}ssociations of genetically predicted interleukin-6 and
tumor necrosis factor signaling pathways with mortality
among persons with colorectal cancer: a two-sample
{M}endelian randomization.},
journal = {BMC medicine},
volume = {nn},
issn = {1741-7015},
address = {London},
publisher = {BioMed Central},
reportid = {DKFZ-2026-00537},
pages = {nn},
year = {2026},
note = {#DKTKZFB26# / #NCTZFB26# / epub},
abstract = {Despite significant progress in identifying risk factors
for colorectal cancer (CRC), factors influencing survival in
people with CRC remain less understood. Pro-inflammatory
cytokines like interleukin-6 (IL-6) and tumor necrosis
factor-alpha (TNF-α) have been implicated in cancer
progression and may influence CRC outcomes. We investigated
associations between genetically predicted levels of IL-6
and TNF-α signaling pathways and mortality in people with
CRC.We conducted a two-sample Mendelian randomization (MR)
analysis using cis-acting single nucleotide polymorphisms
(SNPs) associated with soluble IL-6 receptor alpha (sIL6-RA)
and IL-6 signal transducer gp130 (IL6ST), representing IL-6
signaling, and with TNF-α, and its soluble receptors
(sTNF-R1, sTNF-R2). SNPs were obtained separately from two
large genome-wide association studies (GWAS): deCODE and UK
Biobank (UKB). The outcome was CRC-specific mortality among
16,964 CRC cases (4010 deaths) in the Genetics and
Epidemiology of Colorectal Cancer Consortium (GECCO).
Analyses were stratified by tumor site and stage. The
inverse variance weighted (IVW) method, incorporating a
correlation matrix for dependent SNPs, was used for primary
analyses. Because literature links TNF-α to CRC incidence,
we additionally performed a simulation study to evaluate the
potential impact of collider bias resulting from restricting
analyses to CRC cases.Genetically predicted sIL6-RA was
weakly positively associated with CRC-specific mortality
(deCODE-SNPs (n = 13) HR per 1 SD increase: 1.06; $95\%$ CI:
1.00-1.12; UKB-SNPs (n = 11) HR: 1.09; $95\%$ CI:
1.02-1.17). Genetically proxied IL6ST levels showed no
association with CRC-specific mortality in the overall
sample (deCODE-SNPs (n = 19) HR: 1.04; $95\%$ CI: 0.90-1.21;
UKB-SNPs (n = 9) HR: 1.11; $95\%$ CI: 0.87-2.42), while
higher IL6ST levels were associated with increased mortality
among patients with stage 2/3 disease (deCODE-SNPs (n = 19)
HR: 1.45; $95\%$ CI: 1.10-1.91; UKB-SNPs (n = 9) HR: 1.87;
$95\%$ CI: 1.22-2.89). No associations were observed for
TNF-α, sTNF-R1, or sTNF-R2. Findings for all exposures were
consistent across both GWAS datasets. Simulation analyses
for TNF-α indicated collider bias was present but limited
in magnitude.Our findings suggest that IL-6 signaling may
play a role in CRC progression although of limited
magnitude, whereas TNF-related pathways appear less relevant
for prognosis.},
keywords = {Colorectal cancer (Other) / IL-6 (Other) / Inflammation
(Other) / Mendelian randomization (Other) / Mortality
(Other) / TNF-α (Other)},
cin = {C070 / C120 / HD01 / HD02},
ddc = {610},
cid = {I:(DE-He78)C070-20160331 / I:(DE-He78)C120-20160331 /
I:(DE-He78)HD01-20160331 / I:(DE-He78)HD02-20160331},
pnm = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
pid = {G:(DE-HGF)POF4-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41792766},
doi = {10.1186/s12916-026-04736-9},
url = {https://inrepo02.dkfz.de/record/310336},
}