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@ARTICLE{Painter:134812,
author = {J. N. Painter and T. A. O'Mara and A. P. Morris and T. H.
T. Cheng and M. Gorman and L. Martin and S. Hodson and A.
Jones and N. G. Martin and S. Gordon and A. K. Henders and
J. Attia and M. McEvoy and E. G. Holliday and R. J. Scott
and P. M. Webb and P. A. Fasching and M. W. Beckmann and A.
B. Ekici and A. Hein and M. Rübner and P. Hall and K. Czene
and T. Dörk and M. Dürst and P. Hillemanns and I.
Runnebaum and D. Lambrechts and F. Amant and D. Annibali and
J. Depreeuw and A. Vanderstichele and E. L. Goode and J. M.
Cunningham and S. C. Dowdy and S. J. Winham and J. Trovik
and E. Hoivik and H. M. J. Werner and C. Krakstad and K.
Ashton and G. Otton and T. Proietto and E. Tham and M. Mints
and S. Ahmed and C. S. Healey and M. Shah and P. D. P.
Pharoah and A. M. Dunning and J. Dennis and M. K. Bolla and
K. Michailidou and Q. Wang and J. P. Tyrer and J. L. Hopper
and J. Peto and A. J. Swerdlow and B. Burwinkel$^*$ and H.
Brenner$^*$ and A. Meindl and H. Brauch$^*$ and A. Lindblom
and J. Chang-Claude$^*$ and F. J. Couch and G. G. Giles and
V. N. Kristensen and A. Cox and K. T. Zondervan and D. R.
Nyholt and S. MacGregor and G. W. Montgomery and I.
Tomlinson and D. F. Easton and D. J. Thompson and A. B.
Spurdle},
title = {{G}enetic overlap between endometriosis and endometrial
cancer: evidence from cross-disease genetic correlation and
{GWAS} meta-analyses.},
journal = {Cancer medicine},
volume = {7},
number = {5},
issn = {2045-7634},
address = {Hoboken, NJ},
publisher = {Wiley},
reportid = {DKFZ-2018-00603},
pages = {1978 - 1987},
year = {2018},
abstract = {Epidemiological, biological, and molecular data suggest
links between endometriosis and endometrial cancer, with
recent epidemiological studies providing evidence for an
association between a previous diagnosis of endometriosis
and risk of endometrial cancer. We used genetic data as an
alternative approach to investigate shared biological
etiology of these two diseases. Genetic correlation analysis
of summary level statistics from genomewide association
studies (GWAS) using LD Score regression revealed moderate
but significant genetic correlation (rg = 0.23,
P = 9.3 × 10-3 ), and SNP effect concordance analysis
provided evidence for significant SNP pleiotropy
(P = 6.0 × 10-3 ) and concordance in effect direction
(P = 2.0 × 10-3 ) between the two diseases.
Cross-disease GWAS meta-analysis highlighted 13 distinct
loci associated at P ≤ 10-5 with both endometriosis and
endometrial cancer, with one locus (SNP rs2475335) located
within PTPRD associated at a genomewide significant level
(P = 4.9 × 10-8 , OR = 1.11, $95\%$
CI = 1.07-1.15). PTPRD acts in the STAT3 pathway, which
has been implicated in both endometriosis and endometrial
cancer. This study demonstrates the value of cross-disease
genetic analysis to support epidemiological observations and
to identify biological pathways of relevance to multiple
diseases.},
cin = {C070 / G110 / L101 / C080 / C020 / L801},
ddc = {610},
cid = {I:(DE-He78)C070-20160331 / I:(DE-He78)G110-20160331 /
I:(DE-He78)L101-20160331 / I:(DE-He78)C080-20160331 /
I:(DE-He78)C020-20160331 / I:(DE-He78)L801-20160331},
pnm = {313 - Cancer risk factors and prevention (POF3-313)},
pid = {G:(DE-HGF)POF3-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:29608257},
pmc = {pmc:PMC5943470},
doi = {10.1002/cam4.1445},
url = {https://inrepo02.dkfz.de/record/134812},
}