Journal Article

DKFZ-2018-00603

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.

Painter, J. N. ; O'Mara, T. A. ; Morris, A. P. ; Cheng, T. H. T. ; Gorman, M. ; Martin, L. ; Hodson, S. ; Jones, A. ; Martin, N. G. ; Gordon, S. ; Henders, A. K. ; Attia, J. ; McEvoy, M. ; Holliday, E. G. ; Scott, R. J. ; Webb, P. M. ; Fasching, P. A. ; Beckmann, M. W. ; Ekici, A. B. ; Hein, A. ; Rübner, M. ; Hall, P. ; Czene, K. ; Dörk, T. ; Dürst, M. ; Hillemanns, P. ; Runnebaum, I. ; Lambrechts, D. ; Amant, F. ; Annibali, D. ; Depreeuw, J. ; Vanderstichele, A. ; Goode, E. L. ; Cunningham, J. M. ; Dowdy, S. C. ; Winham, S. J. ; Trovik, J. ; Hoivik, E. ; Werner, H. M. J. ; Krakstad, C. ; Ashton, K. ; Otton, G. ; Proietto, T. ; Tham, E. ; Mints, M. ; Ahmed, S. ; Healey, C. S. ; Shah, M. ; Pharoah, P. D. P. ; Dunning, A. M. ; Dennis, J. ; Bolla, M. K. ; Michailidou, K. ; Wang, Q. ; Tyrer, J. P. ; Hopper, J. L. ; Peto, J. ; Swerdlow, A. J. ; Burwinkel, B.DKFZ* ; Brenner, H.DKFZ* ; Meindl, A. ; Brauch, H.DKFZ* ; Lindblom, A. ; Chang-Claude, J.DKFZ* ; Couch, F. J. ; Giles, G. G. ; Kristensen, V. N. ; Cox, A. ; Zondervan, K. T. ; Nyholt, D. R. ; MacGregor, S. ; Montgomery, G. W. ; Tomlinson, I. ; Easton, D. F. ; Thompson, D. J. ; Spurdle, A. B.

2018
Wiley Hoboken, NJ

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Please use a persistent id in citations: doi:10.1002/cam4.1445

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.

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Contributing Institute(s):

1. C070 Klinische Epidemiologie und Alternf. (C070)
2. Präventive Onkologie (G110)
3. DKTK Heidelberg (L101)
4. Molekulare Epidemiologie (C080)
5. C020 Epidemiologie von Krebs (C020)
6. DKTK Tübingen (L801)

Research Program(s):

1. 313 - Cancer risk factors and prevention (POF3-313) (POF3-313)

Appears in the scientific report 2018

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Database coverage:
; ; ; BIOSIS Previews ; Current Contents - Clinical Medicine ; DOAJ Seal ; IF < 5 ; JCR ; NCBI Molecular Biology Database ; SCOPUS ; Science Citation Index Expanded ; Thomson Reuters Master Journal List ; Web of Science Core Collection

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