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@ARTICLE{Lin:168679,
author = {H.-Y. Lin and P.-Y. Huang and C.-H. Cheng and H.-Y. Tung
and Z. Fang and A. E. Berglund and A. Chen and J.
French-Kwawu and D. Harris and J. Pow-Sang and K. Yamoah and
J. L. Cleveland and S. Awasthi and R. J. Rounbehler and T.
Gerke and J. Dhillon and R. Eeles and Z. Kote-Jarai and K.
Muir and J. Schleutker and N. Pashayan and D. E. Neal and S.
F. Nielsen and B. G. Nordestgaard and H. Gronberg and F.
Wiklund and G. G. Giles and C. A. Haiman and R. C. Travis
and J. L. Stanford and A. S. Kibel and C. Cybulski and K.-T.
Khaw and C. Maier and S. N. Thibodeau and M. R. Teixeira and
L. Cannon-Albright and H. Brenner$^*$ and R. Kaneva and H.
Pandha and S. Srinivasan and J. Clements and J. Batra and J.
Y. Park and R. Eeles and Z. Kote-Jarai and K. Muir and J.
Clements and J. Batra and H.-Y. Lin and R. Eeles and Z.
Kote-Jarai and K. Muir and J. Schleutker and N. Pashayan and
D. E. Neal and S. F. Nielsen and B. G. Nordestgaard and H.
Gronberg and F. Wiklund and G. G. Giles and C. A. Haiman and
R. C. Travis and J. L. Stanford and A. S. Kibel and C.
Cybulski and K.-T. Khaw and C. Maier and S. N. Thibodeau and
M. R. Teixeira and L. Cannon-Albright and H. Brenner$^*$ and
R. Kaneva and H. Pandha},
collaboration = {UKGPCS collaborators and APCB and P. consortium},
title = {{KLK}3 {SNP}-{SNP} interactions for prediction of prostate
cancer aggressiveness.},
journal = {Scientific reports},
volume = {11},
number = {1},
issn = {2045-2322},
address = {[London]},
publisher = {Macmillan Publishers Limited, part of Springer Nature},
reportid = {DKFZ-2021-00987},
pages = {9264},
year = {2021},
abstract = {Risk classification for prostate cancer (PCa)
aggressiveness and underlying mechanisms remain inadequate.
Interactions between single nucleotide polymorphisms (SNPs)
may provide a solution to fill these gaps. To identify
SNP-SNP interactions in the four pathways (the
angiogenesis-, mitochondria-, miRNA-, and androgen
metabolism-related pathways) associated with PCa
aggressiveness, we tested 8587 SNPs for 20,729 cases from
the PCa consortium. We identified 3 KLK3 SNPs, and 1083 (P <
3.5 × 10-9) and 3145 (P < 1 × 10-5) SNP-SNP interaction
pairs significantly associated with PCa aggressiveness.
These SNP pairs associated with PCa aggressiveness were more
significant than each of their constituent SNP individual
effects. The majority $(98.6\%)$ of the 3145 pairs involved
KLK3. The 3 most common gene-gene interactions were
KLK3-COL4A1:COL4A2, KLK3-CDH13, and KLK3-TGFBR3. Predictions
from the SNP interaction-based polygenic risk score based on
24 SNP pairs are promising. The prevalence of PCa
aggressiveness was $49.8\%,$ $21.9\%,$ and $7.0\%$ for the
PCa cases from our cohort with the top $1\%,$ middle $50\%,$
and bottom $1\%$ risk profiles. Potential biological
functions of the identified KLK3 SNP-SNP interactions were
supported by gene expression and protein-protein interaction
results. Our findings suggest KLK3 SNP interactions may play
an important role in PCa aggressiveness.},
cin = {C070 / C120 / HD01},
ddc = {600},
cid = {I:(DE-He78)C070-20160331 / I:(DE-He78)C120-20160331 /
I:(DE-He78)HD01-20160331},
pnm = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
pid = {G:(DE-HGF)POF4-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:33927218},
pmc = {pmc:PMC8084951},
doi = {10.1038/s41598-021-85169-7},
url = {https://inrepo02.dkfz.de/record/168679},
}