Journal
NATURE GENETICS
Volume 48, Issue 4, Pages 374-+Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3521
Keywords
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Funding
- National Institute for Health Research (NIHR)
- European Community [223175 (HEALTH-F2-2009-223175)]
- Cancer Research UK [C1287/A10118, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565]
- US National Institutes of Health (NIH) [CA128978, CA192393, CA116167, CA176785]
- US National Institutes of Health (NIH Specialized Program of Research Excellence (SPORE) in Breast Cancer) [CA116201]
- Post-Cancer GWAS initiative [1U19 CA148537, 1U19 CA148065, 1U19 CA148112]
- Post-Cancer GWAS initiative (GAME-ON initiative)
- US Department of Defense [W81XWH-10-1-0341]
- Canadian Institutes of Health Research (CIHR)
- Komen Foundation for the Cure
- Breast Cancer Research Foundation
- Ovarian Cancer Research Fund
- Grants-in-Aid for Scientific Research [26253041] Funding Source: KAKEN
- Cancer Foundation Finland sr [110135, 150147] Funding Source: researchfish
- Cancer Research UK [16565, 11174, 10118, 14136, 16561] Funding Source: researchfish
- Cancer Research UK
- The Francis Crick Institute [10119] Funding Source: researchfish
- Medical Research Council [G0401527, MR/N003284/1] Funding Source: researchfish
- National Breast Cancer Foundation [ECF-12-04, IF-12-06, PF-11-20, PRAC-13-04] Funding Source: researchfish
- National Institute for Health Research [03/DHCS/03/G121/51, NF-SI-0512-10122, NF-SI-0512-10114] Funding Source: researchfish
- The Francis Crick Institute
- Cancer Research UK [10124] Funding Source: researchfish
- MRC [MR/N003284/1] Funding Source: UKRI
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We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor a) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER+ or ER-) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER-tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression.
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