Comparison of novel single nucleotide polymorphisms of zinc transporters with zinc concentration in the human blood and
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Comparison of novel single nucleotide polymorphisms of zinc transporters with zinc concentration in the human blood and vaginal tissues Anett Csiko´s
. Peter Takacs . Ida Miklo´s
Received: 26 October 2019 / Accepted: 16 September 2020 Ó Springer Nature B.V. 2020
Abstract 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.
A. Csiko´s (&) Molecular Biology Group, FemPharma, LLC, Vı´gkedv}u Miha´ly utca 21. II/5, Hungary 4024 Debrecen e-mail: [email protected] P. Takacs Department of Obstetrics and Gynecology, Division of Female Pelvic Medicine and Reconstructive Surgery, Eastern Virginia Medical School, 825 Fairfax Avenue, Suite 526, Norfolk, VA 23507-2007, USA I. Miklo´s Department of Genetics and Applied Microbiology, Faculty of Science and Technology, University of Debrecen, Egyetem te´r 1, Hungary 4032 Debrecen
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. Keywords Zinc transporters SLC30A SLC39A Polymorphism Vagina
Introduction Zinc is the second most common trace element in the human body and a cofactor of numerous enzymes. Zinc ions are delivered across the membranes by zinc transporters, which are transmembrane proteins. Two major families of zinc transporters have been identified: solute-linked carriers 30A (SLC30A, also called Zn transporter, ZnTs) (Palmiter and Huang 2004) and SLC39A (also known as Zrt-, Irt-related proteins, ZIPs) (Eide 2004). Ten SLC30A genes and 14
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Biometals
SLC39A genes have been defined in humans. Intracellular zinc homeostasis depends on these zinc transporters, which have opposite roles in the regulation of the transport. Th
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