Genetic risk factors for endometriosis, endometrial and ovarian cancer in a German Case-Control Study

Sophia Antoniadis, Lothar Häberle, Matthias Rübner, Kathrin Büchner, S Blum, Arif B. Ekici, Arndt Hartmann, Alexander Hein, Arnfried Reis, M.W. Beckmann, Stefan P. Renner, PA Fasching, Stefanie Burghaus
In: Geburtshilfe und Frauenheilkunde · 2018 · doi:10.1055/s-0038-1670971 · W2898931109
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This study investigated validated genetic risk factors for endometriosis, endometrial, and ovarian cancer in a German population to identify overlapping associations and involved molecular pathways.

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This German case-control study investigated whether validated genetic risk factors for endometriosis, endometrial cancer, and ovarian cancer overlap by genotyping 47 single nucleotide polymorphisms in 385 patients with endometriosis and 484 healthy controls. The researchers employed logistic regression models to assess associations while adjusting for clinical predictors, aiming to identify shared molecular pathways between these gynecological conditions. However, the analysis found no statistically significant results after correcting for multiple testing, although three specific SNPs showed nominal associations that did not reach significance thresholds. This paper is centrally about endometriosis — specifically investigating its potential shared genetic etiology with endometrial and ovarian cancers through a validation study in a German cohort.

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Abstract

Several genetic variants have been validated as risk factors for endometriosis, endometrial and ovarian cancer. Endometriosis has also been described as a risk factor for endometrial and ovarian cancer. The aim of the present study was to test genetic risk factors of published validated single nucleotide polymorphisms (SNPs) to confirm them in a German population and to identify overlapping genetic risk factors to provide evidence of which molecular pathways are involved.
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Introduction

Several genetic variants have been validated as risk factors for endometriosis, endometrial and ovarian cancer. Endometriosis has also been described as a risk factor for endometrial and ovarian cancer. The aim of the present study was to test genetic risk factors of published validated single nucleotide polymorphisms (SNPs) to confirm them in a German population and to identify overlapping genetic risk factors to provide evidence of which molecular pathways are involved.

Methods

In a hospital-based case-control analysis, 47 SNPs were genotyped using TaqMan® OpenArrayTM analysis. These included 23 well known SNPs for endometriosis, 9 for endometrial cancer and 15 SNPs for ovarian cancer. The cases consisted of patients with endometriosis, and the controls were healthy individuals. 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

None of the genotypes showed statistical significance after multiple testing. Three SNPs with the lowest P values in the multiple logistic regression models are: rs10811661 on chromosome 9 (P= 0.03; OR 0.70 (95% CI, 0,50 to 0,97), rs10508881 in HNRNPA3P1 (P= 0.048, odds ratio = 0,78 (95% CI 0.61 to 1.00) and rs12248560 in CYP2C19 (P= 0.048, odds ratio = 0,73 (95% CI 0.54 to 1.00).

Conclusions

In conclusion this study couldn't identify overlapping genetic risk factors. Further studies are needed in order to identify common genetic variants of endometriosis and endometrial respectively ovarian cancer.

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