25-OH Vitamin D blood serum linkage with VDR gene polymorphism (rs2228570) in thyroid pathology patients in the West-Ukrainian population

Abstract

Vitamin D is known to alter immune regulation. It binds to the vitamin D receptors (VDR) expressed on T lymphocytes and macrophages. In individuals with Hashimoto’s thyroiditis, serum vitamin D levels were found to be lower compared to healthy controls. The study’s objective was to investigate the association between VDR gene polymorphism (rs2228570) with blood serum levels of 25-OH vitamin D in patients with thyroid pathology from western Ukraine. The study involved a total of 153 patients with various forms of thyroid pathology. 25-OH vitamin D levels in the serum of the patients and healthy individuals were quantified with ELISA using the 25-OH vitamin D Total (Vit D-Direct) Test System ELISA Kit (Monobind Inc.®, United States, Product Code: 9425-300) on the EIA Reader Sirio S (Seac, Italy). Genotyping of the VDR (rs2228570) gene polymorphism was performed using TaqMan probes and TaqMan Genotyping Master Mix (4371355) on CFX96™Real-Time PCR Detection System (Bio-Rad Laboratories, Inc., USA). Polymerase chain reaction (PCR) for TaqMan genotyping was carried out according to the kit instructions (Applied Biosystems, USA). Our research identified that that genotype variants of VDR rs2228570 are not risk factors for reduced serum 25-OH vitamin D or vitamin D deficiency in patients with various forms of thyroid pathology patients in the West-Ukrainian population. Vitamin D levels were significantly lower in the carriers of AA and AG genotypes with hypothyroidism caused by autoimmune thyroiditis. In AA genotype carriers with postoperative hypothyroidism, 25-OH vitamin D levels were significantly lower compared to AA genotype carriers with autoimmune thyroiditis.

25-Hydroxyvitamin D Serum Levels Linked to Single Nucleotide Polymorphisms (SNPs) (rs2228570, rs2282679, rs10741657) in Skeletal Muscle Aging in Institutionalized Elderly Men Not Supplemented with Vitamin D

“…Additionally, the VDR gene encodes for the receptor that binds to activated vitamin D3 and regulates many biological activities including calcium and phosphorous homeostasis, apoptosis, and cell differentiation [ 20 ]. VDR genes have been linked to vitamin D deficiency [ 15 , 21 ]. Three common single nucleotide polymorphisms (SNPs) rs10741657 to CYP2R1 (allelic variants A > G), rs2282679 to GC (allelic variants T > G) and rs2228570 to VDR (allelic variants A > G) influence vitamin D status.…”

“…Biallelic variants of these SNPs generate different gene products/protein isoforms that influence the functional effect on proteins: CYP2R1 (rs10741657) differ in the working enzymatic activity of 25-hydroxylase; GC (rs2282679) differ in their vitamin D binding/transport affinity; VDR (rs2228570) differ in the functional uptake of vitamin D receptor. SNPs had a function already described in the literature based on their previous association with 25-OH/D and its related genotypes [ 13 , 18 , 21 , 22 , 23 ]. Thus, depending on the nature of the polymorphism, it could either increase or decrease the concentration of 25-OH/D in sera.…”

Analysis of the Transcriptional Activity of Immune Response Genes in the Blood of Patients with Acute Urticaria

“…Transcriptional induction or repression of genes is reported as an essential index of the functional activity of cells in various diseases [5], [6], [7], [8], [9] and to find new targets for therapy [10], [11], [12], [13], [14]. Changes in the transcriptional activity of several immunoregulatory genes can play a critical role in urticaria pathogenesis.…”

Glucocorticoid-induced Changes in the Transcriptional Activity of Genes of the Innate and Adaptive Immune System in the Blood of Patients with Acute Urticaria

“…Determination of the level of gene transcriptional activity is an essential index of the functional activity of cells [9], [10], [11], [12], [13]. Our previous studies show significant changes in the transcriptional profile and genetic variations in different pathological conditions [14], [15], [16], [17], [18], [19]. Changes in some genes expression of the innate and adaptive immune system play a vital role in the mechanisms of AU development.…”