CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer

  title={CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer},
  author={Deborah J Thompson and Tracy A. O'Mara and Dylan M Glubb and Jodie N Painter and Timothy H T Cheng and Elizabeth J Folkerd and Deborah A Doody and Joe Dennis and Penelope M Webb and Maggie Gorman and Lynn Martin and Shirley Hodgson and Kyriaki Michailidou and Jonathan P. Tyrer and Mel J. Maranian and Per Hall and Kamila Czene and Hatef Darabi and Jingmei Li and Peter A. Fasching and Alexander Hein and Matthias W. Beckmann and Arif B. Ekici and Thilo D{\"o}rk and Peter Hillemanns and Matthias D{\"u}rst and I B Runnebaum and Hui Zhao and Jeroen Depreeuw and Stefanie Schrauwen and Fr{\'e}d{\'e}ric Amant and Ellen L. Goode and Brooke L. Fridley and Sean C. Dowdy and Stacey J Winham and Helga Birgitte Salvesen and Jone Trovik and Tormund S. Njolstad and Henrica M. J. Werner and Katie M Ashton and Tony Proietto and Geoffrey R Otton and Luis G Carvajal-Carmona and Emma Tham and Tao Liu and Miriam Mints and Rodney J. Scott and Mark McEvoy and John Attia and Elizabeth G. Holliday and Grant W. Montgomery and Nicholas G. Martin and Dale R. Nyholt and Anjali K. Henders and John L. Hopper and Nadia Traficante and Matthias Ruebner and Anthony J Swerdlow and Barbara Burwinkel and Hermann Brenner and Alfons Meindl and Hiltrud Brauch and A. Arto Lindblom and Diether Lambrechts and Jenny Chang-Claude and Fergus J. Couch and Graham G. Giles and Vessela N. Kristensen and Angela Cox and Manjeet K. Bolla and Qin Wang and Stig Egil Bojesen and Mitul H. Shah and Robert L Luben and Kay-tee Khaw and Paul D P Pharoah and Alison M. Dunning and Ian Tomlinson and Mitch Dowsett and Douglas F. Easton and Amanda B Spurdle},
  booktitle={Endocrine-related cancer},
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… CONTINUE READING
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