Vitamin D Receptor Gene Polymorphism as a Risk Factor for Chronic Periodontitis

Background: The aim of this study was to investigate vitamin D receptor (VDR) gene polymorphism as a risk factor associated with chronic periodontitis (CP) and to determine the effect of VDR gene polymorphism on phenotypic CP.Methods: This study is a case-control design that included 162 adults divided into two groups: patients with CP (case group) and patients without CP (control group). Venous blood and DNA were obtained from individual samples. The gene polymorphism was determined using Restricted Fragment Length Polymorphism-Polymerase Chain Reaction (RFLP-PCR) and DNA sequencing to identify endonuclease restrictions in exon 9 (TaqI). The data were analyzed using an independent t-test and Fisher’s exact test. The odds ratio (OR) was used to calculate the risk of VDR gene polymorphism in CP. Results: VDR gene polymorphism was detected in patients with CP and a TT genotype (86.4%), Tt genotype (12.4%), and tt genotype (1.2%). The case group with TT and Tt genotypes had an OR of 12.5 (95% CI:1.6–99.8) of having CP compared to the control group (P<0.05).Conclusions: VDR gene polymorphisms (the TT and Tt genotypes) are risk factors associated with individual susceptibility to CP.

Narrative role of vitamin D receptor with osteoporosis and obesity in a sample of Egyptian females: a pilot study

Background Vitamin D receptor (VDR) is known as one of the cellular regulators for several metabolic pathways indicating its pivotal role in the pathological pathway of numerous diseases. Considering the high frequency of osteoporosis and obesity among women, the current study aimed to explore the prospective assembly of the most frequent two VDR loci, single nucleotide polymorphism SNPs rs731236 (TaqI) and rs7975232 (ApaI) with a genetic predisposition to osteoporosis (skeletal) and obesity (chronic non-skeletal disorders), in Egyptian women. This was a cross-sectional study, including 97 Egyptian females (25–65 years), randomly chosen, from all employees and workers of the National Research Centre, Egypt. Anthropometric measurements (weight, height, BMI), dual-energy X-ray absorptiometry (DEXA), and molecular genetic analysis were done. Results The variation of ApaI genotype between the normal and osteoporotic groups denotes a remarkable association of the homozygote ApaI genotype with osteoporosis risk. Among the normal weight group, bone mineral density (BMD) was significantly associated with TaqI VDR gene polymorphism as the presence of the heterozygote genotype was accompanied with higher BMD while the homozygote one was detected with lower BMD. Also, TaqI VDR gene polymorphism was significantly associated with BMI when participants were divided according to the presence of osteoporosis; increased BMI was expressed in the non-osteoporotic women group carrying the homozygote genotype of Taq I VDR gene while the presence of the heterozygote genotype (TaqI) in the osteoporotic group was associated with increased BMI. Conclusions The heterozygote TaqI genotype is protective against the osteoporosis phenotype and accompanied with increased BMI among osteoporotic women, while the homozygote ApaI genotype has a significant association with osteoporosis risk.

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

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.

Phenotypic manifestations of arterial hypertension according to polymorphism of vitamin D receptor gene

Objective. To determine the phenotypic manifestations of essential arterial hypertension (EAH) according to the vitamin D receptor gene polymorphism (VDR rs10735810, rs2228570).Material and methods. The case-control study involved 100 patients with EAH stage II, 1-3 degrees of blood pressure (BP), high and very high cardiovascular risk, 21% (21) men, 79% (79) women. The mean age of patients was 59.86 ± 6.22 y.o. The control group consisted of 60 healthy individuals, comparable in age and gender. To study the VDR gene polymorphism (rs10735810, rs2228570) performed a qualitative polymerase chain reaction in real-time. Results. Almost half of the patients with elevated normal BP (44.4%) and 34% of patients with EAH 2-3 d. there is concomitant diabetes mellitus (DM) type 2, while for EAH 1 d. it is only 19%. Obesity of 1-3 degrees was shown in 53% of patients with EAH: average EAH of 1 d. - 21%, among the EAH 2-3 d. - 25%. In the control group, 16% suffered from obesity. The distribution of VDR gene polymorphism genotypes according to the presence of DM showed that it was present in 35% of patients with AA-genotype, which is 1.6 times more often than in patients with GG-genotype (22%). Most smokers among patients with GG-genotype (26%), which is twice as common as those with AA- and AG-genotype (13% and 14%, respectively). Obesity of 1-3 degrees most often met among carriers of GG-genotype - 74%, and in the control group 14%. An elevated level of waist-hip ratio (WHR) among women with EAH was in 80% of the AA-genotype carriers, in the control group, all women had normal values. In 76% of the AG-genotype carriers and in 81% of the GG-genotype carriers, the WHR was increased by 2.3 and 2.8 times, respectively, that in the control group. Deviations of systolic and diastolic BP according to the VDR gene polymorphic variants have not been established.Conclusions. The AA-genotype is associated with DM 2 and with elevated WHR in women; GG-genotype - with elevated BMI, especially in men.

Vitamin D Receptor Gene Polymorphisms FokI rs2228570, ApaI rs797523, and TaqI rs731236 in Multibacillary Leprosy Patients

AIM:: Knowing distribution frequency of genotype and allele Vitamin D receptor (VDR) gene polymorphism FokI rs2228570, ApaI rs797523, and TaqI rs731236 in leprosy patients. METHODS: This is an observational research that was done in Leprosy Division, Department of Dermatology and Venereology, Haji Adam Malik General Hospital, Dr. Pirngadi General Hospital in Medan, and other primary healthcare facilities in North Sumatera. The research subjects underwent an interview process, physical examination and blood collection to detect VDR gene polymorphism FokI rs2228570, ApaI rs797523, and TaqI rs731236. The data were then tabulated and analyzed, also calculated using Hardy-Weinberg equilibrium. RESULTS: This study involved 52 leprosy patients, with most of them aged between 35 and 44 years (38.5%), male (61.5%) more than female (38.5%). The research subjects have VDR gene polymorphisms FokI rs2228570 with genotype FF (42.3%) with F allele (59.6%), ApaI rs797523 genotype AA (46.1%) with A allele (65.4%) and TaqI rs731236 genotype TT (86.5%) with T allele (93.3%). CONCLUSION: Most of the leprosy patients have genotype FF with F allele, genotype AA with A allele and TT with T allele. Further research can be done to assess the relationship between the VDR gene polymorphism and leprosy risk.

Vitamin D Status, Bone Mineral Density and VDR Gene Polymorphism in a Cohort of Belarusian Postmenopausal Women

Vitamin D plays an important role in bone metabolism and is important for the prevention of multifactorial pathologies, including osteoporosis (OP). The biological action of vitamin is realized through its receptor, which is coded by the VDR gene. VDR gene polymorphism can influence individual predisposition to OP and response to vitamin D supplementation. The aim of this work was to reveal the effects of VDR gene ApaI rs7975232, BsmI rs1544410, TaqI rs731236, FokI rs2228570, and Cdx2 rs11568820 variants on bone mineral density (BMD), 25-hydroxyvitamin D level, and OP risk in Belarusian women. Methods. The case group included 355 women with postmenopausal OP, and the control group comprised 247 women who met the inclusion criteria. TaqMan genotyping assay was used to determine VDR gene variants. Results. Rs7975232 A/A, rs1544410 T/T, and rs731236 G/G single variants and their A-T-G haplotype showed a significant association with increased OP risk (for A-T-G, OR = 1.8, p = 0.0001) and decreased BMD (A-T-G, −0.09 g/cm2, p = 0.0001). The rs11568820 A-allele showed a protective effect on BMD (+0.22 g/cm2, p = 0.027). A significant dose effect with 25(OH)D was found for rs1544410, rs731236, and rs11568820 genotypes. Rs731236 A/A was associated with the 25(OH)D deficiency state. Conclusion. Our novel data on the relationship between VDR gene variants and BMD, 25(OH)D level, and OP risk highlights the importance of genetic markers for personalized medicine strategy.