Please use this identifier to cite or link to this item:
https://doi.org/10.1530/ERC-15-0386
DC Field | Value | |
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dc.title | CYP19A1 fine-mapping and Mendelian randomization: Estradiol is causal for endometrial cancer | |
dc.contributor.author | Thompson, D.J | |
dc.contributor.author | O'Mara, T.A | |
dc.contributor.author | Glubb, D.M | |
dc.date.accessioned | 2020-10-23T08:00:39Z | |
dc.date.available | 2020-10-23T08:00:39Z | |
dc.date.issued | 2016 | |
dc.identifier.citation | Thompson, D.J, O'Mara, T.A, Glubb, D.M (2016). CYP19A1 fine-mapping and Mendelian randomization: Estradiol is causal for endometrial cancer. Endocrine-Related Cancer 23 (2) : 77-91. ScholarBank@NUS Repository. https://doi.org/10.1530/ERC-15-0386 | |
dc.identifier.issn | 1351-0088 | |
dc.identifier.uri | https://scholarbank.nus.edu.sg/handle/10635/179602 | |
dc.description.abstract | Candidate gene studies have reported CYP19A1 variants to be associated with endometrial cancerandwith estradiol (E2) concentrations.We analyzed2937singlenucleotidepolymorphisms (SNPs) in 6608 endometrial cancer cases and 37 925 controls and report the first genome widesignificant 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 theobservedeffectonE2 concentrations (1.09, CI=1.03-1.21), consistentwith 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 associationswith rs727479 were stronger amongwomen with a higher BMI (PinteractionZ0.034 and 0.066 respectively), suggesting a biologically plausible gene-environment interaction. © 2016 The authors. | |
dc.publisher | BioScientifica Ltd. | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
dc.source | Unpaywall 20201031 | |
dc.subject | aromatase | |
dc.subject | estradiol | |
dc.subject | aromatase | |
dc.subject | CYP19A1 protein, human | |
dc.subject | estradiol | |
dc.subject | Article | |
dc.subject | cancer risk | |
dc.subject | case control study | |
dc.subject | controlled study | |
dc.subject | endometrium cancer | |
dc.subject | female | |
dc.subject | gene mapping | |
dc.subject | genetic association | |
dc.subject | genetic variability | |
dc.subject | genotype environment interaction | |
dc.subject | hormone determination | |
dc.subject | human | |
dc.subject | information retrieval | |
dc.subject | major clinical study | |
dc.subject | Mendelian randomization analysis | |
dc.subject | phenotype | |
dc.subject | postmenopause | |
dc.subject | risk assessment | |
dc.subject | single nucleotide polymorphism | |
dc.subject | age | |
dc.subject | allele | |
dc.subject | blood | |
dc.subject | body mass | |
dc.subject | Endometrial Neoplasms | |
dc.subject | genetic association study | |
dc.subject | genetic predisposition | |
dc.subject | genetics | |
dc.subject | genotype | |
dc.subject | genotype environment interaction | |
dc.subject | pathology | |
dc.subject | single nucleotide polymorphism | |
dc.subject | Age Factors | |
dc.subject | Alleles | |
dc.subject | Aromatase | |
dc.subject | Body Mass Index | |
dc.subject | Case-Control Studies | |
dc.subject | Endometrial Neoplasms | |
dc.subject | Estradiol | |
dc.subject | Female | |
dc.subject | Gene-Environment Interaction | |
dc.subject | Genetic Association Studies | |
dc.subject | Genetic Predisposition to Disease | |
dc.subject | Genotype | |
dc.subject | Humans | |
dc.subject | Phenotype | |
dc.subject | Polymorphism, Single Nucleotide | |
dc.type | Article | |
dc.contributor.department | SURGERY | |
dc.description.doi | 10.1530/ERC-15-0386 | |
dc.description.sourcetitle | Endocrine-Related Cancer | |
dc.description.volume | 23 | |
dc.description.issue | 2 | |
dc.description.page | 77-91 | |
dc.published.state | Published | |
Appears in Collections: | Elements Staff Publications |
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