Thompson, D. J., O'Mara, T. A., Glubb, D. M., Painter, J. N., Cheng, T., Folkerd, E. J., Doody, D., Dennis, J., Webb, P. M., Gorman, M., Martin, L., Hodgson, S., Michailidou, K., Tyrer, J. P., Maranian, M. J., Hall, P., Czene, K., Darabi, H., Li, J., ... Spurdle, A. B. (2016). CYP19A1 fine-mapping and Mendelian randomization. Endocrine - Related Cancer, 23, 77-91. https://doi.org/10.1530/ERC-15-0386
Thompson, DJ, O'Mara, TA, Glubb, DM, Painter, JN, Cheng, T, Folkerd, EJ, Doody, D, Dennis, J, Webb, PM, Gorman, M, Martin, L, Hodgson, S, Michailidou, K, Tyrer, JP, Maranian, MJ, Hall, P, Czene, K, Darabi, H, Li, J, Fasching, PA, Hein, A, Beckmann, MW, Ekici, AB, Doerk, T, Hillemanns, P, Durst, M, Runnebaum, I, Zhao, H, Depreeuw, J, Schrauwen, S, Amant, F, Goode, EL, Fridley, BL, Dowdy, SC, Winham, SJ, Salvesen, HB, Trovik, J, Njolstad, TS, Werner, HMJ, Ashton, K, Proietto, T, Otton, G, Carvajal-carmona, L, Tham, E, Liu, T, Mints, M, Scott, RJ, McEvoy, MG, Attia, JR, Holliday, EG, Montgomery, GW, Martin, NG, Nyholt, DR, Henders, AK, Hopper, JL, Traficante, N, Ruebner, M, Swerdlow, AJ, Burwinkel, B, Brenner, H, Meindl, A, Brauch, H, Lindblom, A, Lambrechts, D, Chang-Claude, J, Couch, FJ, Giles, G, Kristensen, VN, Cox, A, Bolla, MK, Wang, Q, Bojesen, SE, Shah, M, Luben, R, Khaw, K-T, Pharoah, PPD, Dunning, AM, Tomlinson, I, Dowsett, M, Easton, DF & Spurdle, AB 2016, 'CYP19A1 fine-mapping and Mendelian randomization', Endocrine - Related Cancer, vol. 23, pp. 77-91. https://doi.org/10.1530/ERC-15-0386
@article{e641b5883b53476eaf486a7c81621687,
title = "CYP19A1 fine-mapping and Mendelian randomization",
abstract = "Candidate gene studies have reported CYP19A1 variants to be associated with endometrial cancer and with estradiol (E2) concentrations. We analyzed 2937 single nucleotide polymorphisms (SNPs) in 6608 endometrial cancer cases and 37 925 controls and report the first genome wide-significant association between endometrial cancer and a CYP19A1 SNP (rs727479 in intron 2, P=4.8×10−11). SNP rs727479 was also among those most strongly associated with circulating E2 concentrations in 2767 post-menopausal controls (P=7.4×10−8). The observed endometrial cancer odds ratio per rs727479 A-allele (1.15, CI=1.11–1.21) is compatible with that predicted by the observed effect on E2 concentrations (1.09, CI=1.03–1.21), consistent with the hypothesis that endometrial cancer risk is driven by E2. From 28 candidate-causal SNPs, 12 co-located with three putative gene-regulatory elements and their risk alleles associated with higher CYP19A1 expression in bioinformatical analyses. For both phenotypes, the associations with rs727479 were stronger among women with a higher BMI (Pinteraction=0.034 and 0.066 respectively), suggesting a biologically plausible gene-environment interaction.",
author = "Thompson, {Deborah J} and O'Mara, {Tracy A} and Glubb, {Dylan M} and Painter, {Jodie N} and Timothy Cheng and Folkerd, {Elizabeth J} and Deborah Doody and Joe Dennis and Webb, {Penelope M} and Maggie Gorman and Lynn Martin and Shirley Hodgson and Kyriaki Michailidou and Tyrer, {Jonathan P} and Maranian, {Mel J} and Per Hall and Kamila Czene and Hatef Darabi and Jingmei Li and Fasching, {Peter A} and Alexander Hein and Beckmann, {Matthias W} and Ekici, {Arif B} and Thilo Doerk and Peter Hillemanns and Matthias Durst and Ingo Runnebaum and Hui Zhao and Jeroen Depreeuw and Stefanie Schrauwen and Frederic Amant and Goode, {Ellen L} and Fridley, {Brooke L} and Dowdy, {Sean C} and Winham, {Stacey J} and Salvesen, {Helga B} and Jone Trovik and Njolstad, {Tormund S} and Werner, {Henrica M J} and Katie Ashton and Tony Proietto and Geoffrey Otton and Luis Carvajal-carmona and Emma Tham and Tao Liu and Miriam Mints and Scott, {Rodney J} and McEvoy, {Mark G} and Attia, {John R} and Holliday, {Elizabeth G} and Montgomery, {Grant W.} and Martin, {Nicholas G.} and Nyholt, {Dale R} and Henders, {Anjali K} and Hopper, {John L} and Nadia Traficante and Matthias Ruebner and Swerdlow, {Anthony J} and Barbara Burwinkel and Hermann Brenner and Alfons Meindl and Hiltrud Brauch and Annika Lindblom and Diether Lambrechts and Jenny Chang-Claude and Couch, {Fergus J} and Graham Giles and Kristensen, {Vessela N} and Angela Cox and Bolla, {Manjeet K} and Qin Wang and Bojesen, {Stig E} and Mitul Shah and Robert Luben and Kay-Tee Khaw and Pharoah, {Paul P D} and Dunning, {Alison M} and Ian Tomlinson and Mitch Dowsett and Easton, {Douglas F} and Spurdle, {Amanda B}",
year = "2016",
month = feb,
day = "1",
doi = "10.1530/ERC-15-0386",
language = "English",
volume = "23",
pages = "77--91",
journal = "Endocrine - Related Cancer",
issn = "1351-0088",
publisher = "BioScientifica Ltd.",
}
