Results
| PMID | 28214017 |
| Gene Name | HNF1B |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | rs11651755 |
| Population size | 869 |
| Population details | 869 (385 cases, 484 controls) |
| Sex | Female |
| Other associated phenotypes |
Endometriosis, Ovarian cancer |
|
Gynecol Oncol. 2017 Apr;145(1):142-147. doi: 10.1016/j.ygyno.2017.02.022. Epub Burghaus, Stefanie| Fasching, Peter A| Haberle, Lothar| Rubner, Matthias| Buchner, Kathrin| Blum, Simon| Engel, Anne| Ekici, Arif B| Hartmann, Arndt| Hein, Alexander| Beckmann, Matthias W| Renner, Stefan P Department of Gynecology and Obstetrics, University Endometriosis Center for Franconia, Erlangen University Hospital, Friedrich-Alexander University of Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.| Department of Gyne OBJECTIVE: Several genetic variants have been validated as risk factors for ovarian cancer. Endometriosis has also been described as a risk factor for ovarian cancer. Identifying genetic risk factors that are common to the two diseases might help improve our understanding of the molecular pathogenesis potentially linking the two conditions. METHODS: In a hospital-based case-control analysis, 12 single nucleotide polymorphisms (SNPs), validated by the Ovarian Cancer Association Consortium (OCAC) and the Collaborative Oncological Gene-environment Study (COGS) project, were genotyped using TaqMan(R) OpenArray analysis. The cases consisted of patients with endometriosis, and the controls were healthy individuals without endometriosis. A total of 385 cases and 484 controls were analyzed. Odds ratios and P values were obtained using simple logistic regression models, as well as from multiple logistic regression models with adjustment for clinical predictors. RESULTS: rs11651755 in HNF1B was found to be associated with endometriosis in this case-control study. The OR was 0.66 (95% CI, 0.51 to 0.84) and the P value after correction for multiple testing was 0.01. None of the other genotypes was associated with a risk for endometriosis. CONCLUSIONS: As rs11651755 in HNF1B modified both the ovarian cancer risk and also the risk for endometriosis, HNF1B may be causally involved in the pathogenetic pathway leading from endometriosis to ovarian cancer. Mesh Terms: Adenocarcinoma, Clear Cell/genetics| Adult| Case-Control Studies| Endometriosis/*genetics| Female| Genetic Predisposition to Disease| Hepatocyte Nuclear Factor 1-beta/*genetics| Humans| Logistic Models| Middle Aged| Odds Ratio| Ovarian Neoplasm |
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