Association between leptin and leptin receptor gene polymorphisms and breast cancer risk in premenopausal and postmenopausal Mexican women

Purpose: This study aims to evaluate the association between leptin (-2548 G>A) and leptin receptor (p.K109R, p.Q223R, p.K656N) polymorphisms with breast cancer (BC) risk in premenopausal and postmenopausal Mexican women. Material and methods: 274 women were included, 76 with BC in premenopause, 66 with BC in postmenopause, 108 without BC in premenopause, and 22 without BC in postmenopause. Four polymorphisms were genotyped by PCR, High Resolution Melting, and DNA direct sequencing. χ, logistic regression analysis was performed with SPSS and XLSTAT software. Results: There was statistically significant risk of BC in postmenopausal women with LEPR p.Q223R+p.R223R (OR: 8.4, 95% CI: 2.7-25.6, P <0.001), and in premenopausal women with LEP-2548G>A+ -2548A>A genotype (OR: 1.7, 95% CI: 1.0-3.0, P = 0.04). Discussion and Conclusions: This is the first study from Mexico that includes four polymorphisms on LEP and LEPR genes. Our data indicate that both LEPR p.Q223R in postmenopausal women and LEP-2548G>A in premenopausal women have a strong association with BC, which suggests that these polymorphisms play a role in the development of BC in Mexican women. We detected coincidences and differences with respect to other populations. This highlights the importance of conducting genetic epidemiologic studies to identify the risk of gene polymorphisms and BC for each population.