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Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses

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Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses. / Painter, Jodie N; O'Mara, Tracy A; Morris, Andrew P; Cheng, Timothy H T; Gorman, Maggie; Martin, Lynn; Hodson, Shirley; Jones, Angela; Martin, Nicholas G; Gordon, Scott; Henders, Anjali K; Attia, John; McEvoy, Mark; Holliday, Elizabeth G; Scott, Rodney J; Webb, Penelope M; Fasching, Peter A; Beckmann, Matthias W; Ekici, Arif B; Hein, Alexander; Rübner, Matthias; Hall, Per; Czene, Kamila; Dörk, Thilo; Dürst, Matthias; Hillemanns, Peter; Runnebaum, Ingo; Lambrechts, Diether; Amant, Frederic; Annibali, Daniela; Depreeuw, Jeroen; Vanderstichele, Adriaan; Goode, Ellen L; Cunningham, Julie M; Dowdy, Sean C; Winham, Stacey J; Trovik, Jone; Hoivik, Erling; Werner, Henrica M J; Krakstad, Camilla; Ashton, Katie; Otton, Geoffrey; Proietto, Tony; Tham, Emma; Mints, Miriam; Ahmed, Shahana; Healey, Catherine S; Shah, Mitul; Pharoah, Paul D P; Dunning, Alison M; Dennis, Joe; Bolla, Manjeet K; Michailidou, Kyriaki; Wang, Qin; Tyrer, Jonathan P; Hopper, John L; Peto, Julian; Swerdlow, Anthony J; Burwinkel, Barbara; Brenner, Hermann; Meindl, Alfons; Brauch, Hiltrud; Lindblom, Annika; Chang-Claude, Jenny; Couch, Fergus J; Giles, Graham G; Kristensen, Vessela N; Cox, Angela; Zondervan, Krina T; Nyholt, Dale R; MacGregor, Stuart; Montgomery, Grant W; Tomlinson, Ian; Easton, Douglas F; Thompson, Deborah J; Spurdle, Amanda B.

in: CANCER MED-US, Jahrgang 7, Nr. 5, 05.2018, S. 1978-1987.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Painter, JN, O'Mara, TA, Morris, AP, Cheng, THT, Gorman, M, Martin, L, Hodson, S, Jones, A, Martin, NG, Gordon, S, Henders, AK, Attia, J, McEvoy, M, Holliday, EG, Scott, RJ, Webb, PM, Fasching, PA, Beckmann, MW, Ekici, AB, 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, EL, Cunningham, JM, Dowdy, SC, Winham, SJ, Trovik, J, Hoivik, E, Werner, HMJ, Krakstad, C, Ashton, K, Otton, G, Proietto, T, Tham, E, Mints, M, Ahmed, S, Healey, CS, Shah, M, Pharoah, PDP, Dunning, AM, Dennis, J, Bolla, MK, Michailidou, K, Wang, Q, Tyrer, JP, Hopper, JL, Peto, J, Swerdlow, AJ, Burwinkel, B, Brenner, H, Meindl, A, Brauch, H, Lindblom, A, Chang-Claude, J, Couch, FJ, Giles, GG, Kristensen, VN, Cox, A, Zondervan, KT, Nyholt, DR, MacGregor, S, Montgomery, GW, Tomlinson, I, Easton, DF, Thompson, DJ & Spurdle, AB 2018, 'Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses', CANCER MED-US, Jg. 7, Nr. 5, S. 1978-1987. https://doi.org/10.1002/cam4.1445

APA

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., ... Spurdle, A. B. (2018). Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses. CANCER MED-US, 7(5), 1978-1987. https://doi.org/10.1002/cam4.1445

Vancouver

Painter JN, O'Mara TA, Morris AP, Cheng THT, Gorman M, Martin L et al. Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses. CANCER MED-US. 2018 Mai;7(5):1978-1987. https://doi.org/10.1002/cam4.1445

Bibtex

@article{287d2007a19841a4960ac8944e3585d9,
title = "Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses",
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.",
keywords = "Journal Article",
author = "Painter, {Jodie N} and O'Mara, {Tracy A} and Morris, {Andrew P} and Cheng, {Timothy H T} and Maggie Gorman and Lynn Martin and Shirley Hodson and Angela Jones and Martin, {Nicholas G} and Scott Gordon and Henders, {Anjali K} and John Attia and Mark McEvoy and Holliday, {Elizabeth G} and Scott, {Rodney J} and Webb, {Penelope M} and Fasching, {Peter A} and Beckmann, {Matthias W} and Ekici, {Arif B} and Alexander Hein and Matthias R{\"u}bner and Per Hall and Kamila Czene and Thilo D{\"o}rk and Matthias D{\"u}rst and Peter Hillemanns and Ingo Runnebaum and Diether Lambrechts and Frederic Amant and Daniela Annibali and Jeroen Depreeuw and Adriaan Vanderstichele and Goode, {Ellen L} and Cunningham, {Julie M} and Dowdy, {Sean C} and Winham, {Stacey J} and Jone Trovik and Erling Hoivik and Werner, {Henrica M J} and Camilla Krakstad and Katie Ashton and Geoffrey Otton and Tony Proietto and Emma Tham and Miriam Mints and Shahana Ahmed and Healey, {Catherine S} and Mitul Shah and Pharoah, {Paul D P} and Dunning, {Alison M} and Joe Dennis and Bolla, {Manjeet K} and Kyriaki Michailidou and Qin Wang and Tyrer, {Jonathan P} and Hopper, {John L} and Julian Peto and Swerdlow, {Anthony J} and Barbara Burwinkel and Hermann Brenner and Alfons Meindl and Hiltrud Brauch and Annika Lindblom and Jenny Chang-Claude and Couch, {Fergus J} and Giles, {Graham G} and Kristensen, {Vessela N} and Angela Cox and Zondervan, {Krina T} and Nyholt, {Dale R} and Stuart MacGregor and Montgomery, {Grant W} and Ian Tomlinson and Easton, {Douglas F} and Thompson, {Deborah J} and Spurdle, {Amanda B}",
note = "{\textcopyright} 2018 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.",
year = "2018",
month = may,
doi = "10.1002/cam4.1445",
language = "English",
volume = "7",
pages = "1978--1987",
journal = "CANCER MED-US",
issn = "2045-7634",
publisher = "John Wiley and Sons Ltd",
number = "5",

}

RIS

TY - JOUR

T1 - Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses

AU - Painter, Jodie N

AU - O'Mara, Tracy A

AU - Morris, Andrew P

AU - Cheng, Timothy H T

AU - Gorman, Maggie

AU - Martin, Lynn

AU - Hodson, Shirley

AU - Jones, Angela

AU - Martin, Nicholas G

AU - Gordon, Scott

AU - Henders, Anjali K

AU - Attia, John

AU - McEvoy, Mark

AU - Holliday, Elizabeth G

AU - Scott, Rodney J

AU - Webb, Penelope M

AU - Fasching, Peter A

AU - Beckmann, Matthias W

AU - Ekici, Arif B

AU - Hein, Alexander

AU - Rübner, Matthias

AU - Hall, Per

AU - Czene, Kamila

AU - Dörk, Thilo

AU - Dürst, Matthias

AU - Hillemanns, Peter

AU - Runnebaum, Ingo

AU - Lambrechts, Diether

AU - Amant, Frederic

AU - Annibali, Daniela

AU - Depreeuw, Jeroen

AU - Vanderstichele, Adriaan

AU - Goode, Ellen L

AU - Cunningham, Julie M

AU - Dowdy, Sean C

AU - Winham, Stacey J

AU - Trovik, Jone

AU - Hoivik, Erling

AU - Werner, Henrica M J

AU - Krakstad, Camilla

AU - Ashton, Katie

AU - Otton, Geoffrey

AU - Proietto, Tony

AU - Tham, Emma

AU - Mints, Miriam

AU - Ahmed, Shahana

AU - Healey, Catherine S

AU - Shah, Mitul

AU - Pharoah, Paul D P

AU - Dunning, Alison M

AU - Dennis, Joe

AU - Bolla, Manjeet K

AU - Michailidou, Kyriaki

AU - Wang, Qin

AU - Tyrer, Jonathan P

AU - Hopper, John L

AU - Peto, Julian

AU - Swerdlow, Anthony J

AU - Burwinkel, Barbara

AU - Brenner, Hermann

AU - Meindl, Alfons

AU - Brauch, Hiltrud

AU - Lindblom, Annika

AU - Chang-Claude, Jenny

AU - Couch, Fergus J

AU - Giles, Graham G

AU - Kristensen, Vessela N

AU - Cox, Angela

AU - Zondervan, Krina T

AU - Nyholt, Dale R

AU - MacGregor, Stuart

AU - Montgomery, Grant W

AU - Tomlinson, Ian

AU - Easton, Douglas F

AU - Thompson, Deborah J

AU - Spurdle, Amanda B

N1 - © 2018 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

PY - 2018/5

Y1 - 2018/5

N2 - 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.

AB - 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.

KW - Journal Article

U2 - 10.1002/cam4.1445

DO - 10.1002/cam4.1445

M3 - SCORING: Journal article

C2 - 29608257

VL - 7

SP - 1978

EP - 1987

JO - CANCER MED-US

JF - CANCER MED-US

SN - 2045-7634

IS - 5

ER -