Background: Previously, the polymorphism-2548 G/A within the promoter of the leptin (LEP) gene was reported to be associated with overweight and obesity, the factors significantly associated to increased endometrial cancer risk. Leptin has been described to play an important role in signal transduction in endometrial cancer cells indicating that leptin promotes endometrial cancer growth and invasiveness and implicating the JAK/STAT and AKT pathways as critical mediators of leptin action. The aim of the study was to investigate the possible associations of LEP-2548 G/A polymorphism with endometrial cancer and its related traits.
Design: Using PCR with following restriction analysis, we studied 67 endometrial cancer cases (mean age 64.3 +/- 10.3 years) that were enrolled in the study along with 67 controls matched for age, BMI and ethnic origin (mean age 62.1 +/-9.8 years); an additional cohort of 543 healthy individual was recruited to investigate the general population frequencies.
Results: The present study revealed no significant differences between the genotypes or alleles of investigated polymorphism for endometrial cancer risk or its related traits (age of menarche, menopause, number of spontaneous abortions in personal history or waiting time till the onset of the disease) among the groups, thus indicating that the genetic variants of LEP-2548 G/A is not a relevant marker of endometrial cancer risk in this Czech population.
Conclusions: To conclude, the polymorphism LEP-2548 G/A doesn't seem to represent a major genetic marker for endometrial cancer in the studied Czech population; however, it was associated with obesity, which finding is in accordance with previous reports.