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@ARTICLE{Jordahl:179585,
author = {K. M. Jordahl and A. Shcherbina and A. E. Kim and Y.-R. Su
and Y. Lin and J. Wang and C. Qu and D. Albanes and V.
Arndt$^*$ and J. W. Baurley and S. I. Berndt and S. A. Bien
and D. T. Bishop and E. Bouras and H. Brenner$^*$ and D. D.
Buchanan and A. Budiarto and P. T. Campbell and R.
Carreras-Torres and G. Casey and T. W. Cenggoro and A. T.
Chan and D. V. Conti and C. H. Dampier and M. A. Devall and
V. Díez-Obrero and N. Dimou and D. A. Drew and J. C.
Figueiredo and S. Gallinger and G. G. Giles and S. B. Gruber
and A. Gsur and M. J. Gunter and H. Hampel and S. Harlid and
T. A. Harrison and A. Hidaka and M. Hoffmeister$^*$ and J.
R. Huyghe and M. A. Jenkins and A. D. Joshi and T. O. Keku
and S. C. Larsson and L. Le Marchand and J. P. Lewinger and
L. Li and B. Mahesworo and V. Moreno and J. L. Morrison and
N. Murphy and H. Nan and R. Nassir and P. A. Newcomb and M.
Obón-Santacana and S. Ogino and J. Ose and R. K. Pai and J.
R. Palmer and N. Papadimitriou and B. Pardamean and A. R.
Peoples and P. D. P. Pharoah and E. A. Platz and J. D.
Potter and R. L. Prentice and G. Rennert and E. Ruiz-Narvaez
and L. C. Sakoda and P. C. Scacheri and S. L. Schmit and R.
E. Schoen and M. L. Slattery and M. C. Stern and C. M.
Tangen and S. N. Thibodeau and D. C. Thomas and Y. Tian$^*$
and K. K. Tsilidis and C. M. Ulrich and F. J. B. van
Duijnhoven and B. Van Guelpen and K. Visvanathan and P.
Vodicka and E. White and A. Wolk and M. O. Woods and A. H.
Wu and N. Zemlianskaia and J. Chang-Claude$^*$ and W. J.
Gauderman and L. Hsu and A. Kundaje and U. Peters},
title = {{B}eyond {GWAS} of {C}olorectal {C}ancer: {E}vidence of
{I}nteraction with {A}lcohol {C}onsumption and {P}utative
{C}ausal {V}ariant for the 10q24.2 {R}egion.},
journal = {Cancer epidemiology, biomarkers $\&$ prevention},
volume = {31},
number = {5},
issn = {1055-9965},
address = {Philadelphia, Pa.},
publisher = {AACR},
reportid = {DKFZ-2022-00763},
pages = {1077-1089},
year = {2022},
note = {2022 May 4;31(5):1077-1089},
abstract = {Currently known associations between common genetic
variants and colorectal cancer explain less than half of its
heritability of $25\%.$ As alcohol consumption has a J-shape
association with colorectal cancer risk, nondrinking and
heavy drinking are both risk factors for colorectal
cancer.Individual-level data was pooled from the Colon
Cancer Family Registry, Colorectal Transdisciplinary Study,
and Genetics and Epidemiology of Colorectal Cancer
Consortium to compare nondrinkers (≤1 g/day) and heavy
drinkers (>28 g/day) with light-to-moderate drinkers (1-28
g/day) in GxE analyses. To improve power, we implemented
joint 2df and 3df tests and a novel two-step method that
modifies the weighted hypothesis testing framework. We
prioritized putative causal variants by predicting allelic
effects using support vector machine models.For nondrinking
as compared with light-to-moderate drinking, the hybrid
two-step approach identified 13 significant SNPs with
pairwise r2 > 0.9 in the 10q24.2/COX15 region. When
stratified by alcohol intake, the A allele of lead SNP
rs2300985 has a dose-response increase in risk of colorectal
cancer as compared with the G allele in light-to-moderate
drinkers [OR for GA genotype = 1.11; $95\%$ confidence
interval (CI), 1.06-1.17; OR for AA genotype = 1.22; $95\%$
CI, 1.14-1.31], but not in nondrinkers or heavy drinkers.
Among the correlated candidate SNPs in the 10q24.2/COX15
region, rs1318920 was predicted to disrupt an HNF4
transcription factor binding motif.Our study suggests that
the association with colorectal cancer in 10q24.2/COX15
observed in genome-wide association study is strongest in
nondrinkers. We also identified rs1318920 as the putative
causal regulatory variant for the region.The study
identifies multifaceted evidence of a possible functional
effect for rs1318920.},
cin = {C071 / C070 / C120 / HD01 / C020},
ddc = {610},
cid = {I:(DE-He78)C071-20160331 / I:(DE-He78)C070-20160331 /
I:(DE-He78)C120-20160331 / I:(DE-He78)HD01-20160331 /
I:(DE-He78)C020-20160331},
pnm = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
pid = {G:(DE-HGF)POF4-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:35438744},
doi = {10.1158/1055-9965.EPI-21-1003},
url = {https://inrepo02.dkfz.de/record/179585},
}