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

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.