Comparison of novel single nucleotide polymorphisms of zinc transporters with zinc concentration in the human blood and vaginal tissues.

The most important proteins regulating cellular zinc homeostasis belong to two protein families of zinc transporters, the solute carrier family 30 (SLC30A) and solute carrier family 39 (SLC39A). We aimed to identify single nucleotide polymorphisms (SNPs) of the SLC30A and SLC39A genes and its association with blood and vaginal tissue zinc levels since vaginal tissue zinc level may play a role in vaginal remodeling and pathological conditions of the vagina. Blood and vaginal tissue samples were collected from women undergoing surgery for benign gynecological reasons. SNPs of twenty-four zinc transporters were determined by PCR/Sequence method, and the concentration of zinc was assessed by inductively coupled plasma optical emission spectrometry. Sequencing of selected exons revealed 16 SNPs, including five previously unidentified SNPs. Our data showed an association between the number of SNPs (more than six SNPs vs. less than six) per patient and high zinc vaginal tissue levels (67% vs. 33%, p < 0.01). The SLC39A4 SNP 590c A (rs17855765) was significantly more frequent in the group of women with high zinc vaginal tissue levels compared to the group without SNP (93% vs. 7%, p = 0.02). Also, our analysis revealed that the number of SNPs in SLC39A4 was significantly more frequent in patients with low zinc blood levels (76% vs. 24%, p = 0.01). Our findings indicate that different SNPs of the zinc transporter genes may have a significant effect on the blood and vaginal tissue zinc levels.