Gene BsmI Research Articles

Vitamin D Receptor Gene Polymorphisms Differentiated Between Tuberculosis Disease and Infection: Causal Association Study.

Latent tuberculosis infection (LTBI) is a critical stage in tuberculosis (TB)control, and few studies have addressed the role of vitamin D receptor(VDR) gene polymorphisms in differentiating between TB and late-onset TB from an immunogenetic perspective. Recruitment of tuberculosis patients and latently infected population in Urumqi, Xinjiang, and use of propensity score matching(PSM) to match the two groups and control confounding to further construct a Bayesian network to analyze causal associations between VDR polymorphisms and tuberculosis disease status. 137 LTBI and 237 TB were obtained through PSM. Logistic regression showed that the VDR gene BsmI locus, TaqI locus, and ApaI locus were associated with a higher risk of TB in a codominant model (P<0.05). Further Bayesian network construction showed that occupation and being a VDR gene BsmI locus were direct influences on TB disease status, and the VDR gene TaqI locus played an indirect role through the BsmI locus, and the probability of TB risk was highest in individuals with manual labour and BsmI locus of the C/T type, which was 84.15%. Bayesian network modelling intuitively revealed that individuals with a C/T type of BsmI locus and physical labour are at high risk of TB compared with TB infection, and they are key factors between with TB disease, providing reference evidence for controlling TB progression.

Gene Variants of Vitamin D Receptor (TaqI T &gt; C (rs731236) and BsmI G &gt; A (rs1544410) in Urolithiasis

Background: Urolithiasis is the most prevalent uronephrologic disorder caused by genetic, environmental factors, and metabolic defects. Objectives: The present study aimed to find a possible association between the vitamin D receptor (VDR) TaqI and the BsmI gene polymorphisms in relation to the serum levels of calcium (Ca) and vitamin D and the risk of urolithiasis. Methods: This case-control study was conducted on 68 children with urolithiasis and 67 healthy controls for the VDR gene polymorphisms using the polymerase chain reaction-restriction length polymorphism method. Results: The frequency of TaqI C allele was 36% in patients compared to 32.1% in controls (P = 0.49). A significantly higher frequency of the TaqI CC genotype was found among patients in the age group &gt; 5 to 10 years. No significant difference was detected in the frequency of the BsmI A allele between patients (41.9%) and controls (42.5%, P = 0.91). However, a significantly lower frequency of the BsmI AA genotype was detected compared to those patients with Ca levels of &gt; 10.8 mg/dL among patients with Ca levels of ≤ 10.8 mg/dL. Conclusions: Based on the results, a lack of an association between the VDR TaqI and BsmI polymorphisms with the risk of urolithiasis among children from Western Iran. However, a higher frequency of the TaqI CC genotype was found in the age group &gt; 5 to 10 years. In addition, lower levels of Ca in patients were related to a significantly lower frequency of the BsmI AA genotype. The VDR gene BsmI polymorphism might affect the calcium level and the calcium metabolism in urolithiasis.

Gene detection of VDR BsmI locus and its approteins, genes and growthplication in rational drug use in patients with osteoporosis.

Aim: This paper determines the polymorphism distribution of the VDR BsmI gene in 350 patients and provides medication recommendations for osteoporosis based on detection results. Materials & methods: Chi-square tests compared genotype and allele frequencies with other populations. Results: Genotype frequencies were 91.66bb, 8.72Bband 0.21% BB, with allelic frequencies of 95.43b and 4.57% B, adhering to Hardy-Weinberg equilibrium. These findings suggest that VDR gene polymorphisms, particularly at the BsmIlocus, play an essential role in bone health and osteoporosis treatment. Genotype-based drug selection reduced adverse reactions from 14 to twocases. Conclusion: These findings improve clinical treatment efficacy and guide rational drug use for osteoporosis patients.

Vitamin D receptor gene BsmI (rs1544410) polymorphism: role in multiple sclerosis and genotype-phenotype correlations.

Multiple sclerosis (MS) has a complex pathophysiology which depends on many endogenous and exogenous factors. Vitamin D involvement has been largely studied in MS. The large distribution of the vitamin D receptor (VDR) in different immune cells is suggestive of an immunomodulatory role. The VDR gene polymorphisms have been proposed as potential risk factors for MS development or evolution with non-conclusive results. We conducted a cross-sectional study including patients ≥ 18 years, with a diagnosis of relapsing remitting MS according to the McDonald Criteria and having a minimum follow-up period of one year after starting a disease modifying therapy. Two study groups were compared based on the Multiple Sclerosis Severity Scale or MSSS: "a slow progressor" group for an MSSS ≤ 5, and a "fast progressor" group for an MSSS > 5. The rs1544410 VDR gene polymorphism was studied for all patients. Eighty patients were included. The fast progressor groups had a higher EDSS at onset, a higher total number of relapses, more frequent and shorter time to secondary progression. The progression profile was not statistically different between genotypes and alleles of the VDR gene polymorphism rs1544410. The CC genotype and wild-type allele exhibited a more aggressive disease phenotype with a higher number of relapses the first year, shorter time to secondary progression and cerebral atrophy on assessment. Our results suggest potential genotype-phenotype correlations for the rs1544410 VDR gene polymorphism in the disease course of MS. Future research on a larger scale is needed to confirm these findings.

Vitamin D receptor gene polymorphism in Egyptian multiple sclerosis patients

One of the most common neurological illnesses in the world is multiple sclerosis (MS), a chronic autoimmune demyelinating disease of the central nervous system (CNS). MS has both a genetic and an environmental origin. In terms of environmental factors, vitamin D deficiency is one of the most important risk factors and closely connected with gene polymorphisms involved in vitamin D metabolism, transport, or activity. Since vitamin D activity requires a receptor-mediated response, any changes to the vitamin D receptor (VDR) may have an effect on the pathophysiology of the disease. In this study, we aimed to identify the relationship between VDR gene polymorphisms, FokI A&gt;G (rs2228570), ApaI A&gt;C (rs7975232) and BsmI C&gt;T (rs1544410) and MS. FokI, ApaI and BsmI genotypes were determined in 50 patients with relapsing remitting MS (RRMS) and in 50 control subjects. DNA was isolated from blood samples, and then FokI, ApaI and BsmI gene polymorphisms were identified using allelic discrimination real time polymerase chain reaction (PCR) assay. The distribution of FokI, ApaI and BsmI polymorphisms did not show any significant differences between MS patients and controls. Thus, we concluded that there is no association between the studied VDR gene polymorphisms and MS.

Association between Vitamin D Receptor Fokl and Bsml Gene Polymorphism and Diabetes Mellitus in Nepalese Population

Vitamin D being involved in the secretion of insulin is a known fact. Moreover, studies have shown that steroids might be a factor in influencing insulin sensitivity. Vitamin D receptor (VDR), a factor required for genetic regulation involving vitamin D, thus can be regarded as a good candidate for Diabetes Mellitus (DM). Several studies have been conducted on the association between VDR polymorphism and the risk of DM but did not provide clear-cut answers. This study was conducted to search for the involvement of FokI and BsmI polymorphisms of the VDR gene with DM in a Nepalese population. A total of 200 blood samples were collected; 100 from clinically diagnosed DM patients and 100 from healthy controls. DNA was extracted from blood by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis, where FokI and BsmI primers as well as restriction enzymes were used. After restriction digestion, SNPs of FokI (T/C) [rs2228570] and BsmI (A/G) [rs1544410] were assayed using agarose gel electrophoresis. As patients and controls were likened for genotype distribution and allelic frequencies, it was found that the frequency of VDR gene BsmI rs1544410 differed significantly (p &lt; 0.05, each) between cases and control whereas A allele was dominant (91%) in healthy controls with Odd ratio (OR) of 0.55, unlike VDR Fokl were not significantly associated between subjects and control. The data obtained from this research suggests that the VDR gene (especially BsmI) is associated with the risk of DM.

Vitamin D deficiency and the vitamin D receptor (VDR) gene polymorphism rs2228570 (FokI) are associated with an increased susceptibility to hypertension among the Bangladeshi population.

Vitamin D receptor (VDR) gene is implicated in hypertension vulnerability due to its role in regulating the renin-angiotensin system (RAS) and blood pressure. In this case-control study, a carefully selected cohort of 111 hypertensive individuals and 100 healthy controls underwent serum analysis using HPLC to measure 25-hydroxy vitamin D levels. Polymorphic variations in the VDR gene were detected and characterized using the PCR-RFLP method. At first, lower 25-hydroxy vitamin D levels were observed in hypertensive individuals compared to controls (p<0.001). The genotype frequency of the VDR gene TaqI showed no significant difference between cases and controls (p>0.05). Similarly, no significant difference was found in the VDR gene BsmI genotype frequency between hypertensive patients and controls (p>0.05). However, a statistically significant distinction was observed in the VDR gene FokI genotype frequency between cases and controls (p<0.01). The odds ratios for FokI genotypes (CC, CT, TT, and CT+TT) were 1.0, 0.590, 1.566, and 0.963, respectively. Furthermore, serum 25-hydroxy vitamin D levels were significantly higher in control subjects compared to hypertensive patients across all genotypes of VDR (p<0.001). Hypertensive patients, excluding those with the FokI VDR gene CC genotype, exhibited significantly higher systolic blood pressure levels compared to the control group (p<0.05). Similarly, hypertensive subjects displayed elevated diastolic blood pressure levels compared to the control group (p<0.001). Overall, the results suggest the presence of a potential inverse correlation between serum 25-hydroxy vitamin D levels and hypertension. The association analysis conducted indicated that there is no significant association between TaqI and bsmI genotypic variants and the risk of developing hypertension. However, it was observed that VDR gene polymorphisms do have a clear association with hypertension susceptibility, as evidenced by the significantly higher occurrence of FokI genotypic variants in hypertensive patients. Our study therefore introduces the possibility of utilizing 25-hydroxy vitamin D deficiency and VDR gene polymorphisms as a biomarker for hypertension.

Assessment of vitamin D status and vitamin D receptor polymorphism in Egyptian children with Type 1 diabetes

BackgroundThe endocrine system of vitamin D regulates about 3 % of the human genome. Vitamin D exerts its actions via a nuclear vitamin D receptor (VDR) which in turn regulates insulin secretion from the pancreas. VDR gene polymorphisms could have an impact on how autoimmune illnesses like Type 1 diabetes mellitus (T1DM) develop. We aimed to explore the relation between T1DM and VDR gene polymorphisms in Egyptian diabetic children and their siblings. MethodsEnzyme-linked immunosorbent assay was used to quantify 25(OH) vitamin D in the study, which had 179 participants (group 1 = 85 diabetic children, group 2 = 57 siblings of the patients, group 3 = 37 healthy controls). Real-time polymerase chain reaction (RT-PCR) was used to analyze the genotyping of the VDR gene polymorphisms Apa-I (rs7975232), Fok-I (rs2228570), Taq-I (rs731236) and Bsm-I (rs1544410). ResultsThe mean serum 25(OH) vitamin D levels was significantly lower in T1DM patients (14.99 ± 9.24 ng/mL) and siblings (16.31 ± 7.96 ng/mL) compared to the controls (19.48 ± 7.42 ng/mL) (p = 0.031). The genotypes distribution of VDR Fok-I (rs2228570) and Bsm-I (rs1544410) polymorphisms showed a significant difference between patients, siblings and controls as P = 0.001 and 0.026 respectively, while the VDR ApaI and TaqI polymorphisms did not. FokI-A allele frequency was significantly lower in T1DM patients and siblings than in controls (p < 0.001). FokI-AA genotype had a statistical significant higher vitamin D levels than other genotypes with p value of 0.024. ConclusionOur study found that T1DM children had lower vitamin D levels, and VDR FokI and BsmI gene polymorphisms were linked to T1DM in Egyptian children. Determining the relationship between vitamin D levels and VDR polymorphisms, particularly the FokI and other genetic analyses may aid in the early diagnosis of T1DM in children.

Vitamin D and Vitamin D Receptor FokI, ApaI, and BsmI Gene Polymorphisms and their Relation with the Risk of Breast Carcinoma: A Case-control Study

Introduction: Breast cancer stands as the leading cause of mortality among women in developing nations. The potential role of Vitamin D in mitigating the incidence of breast cancer is thought to stem from its ability to impede cell proliferation by interacting with the Vitamin D Receptor (VDR). The VDR gene is responsible for encoding the VDR, which plays a pivotal role in mediating the effects of vitamin D. Aim: To analyse vitamin D levels and the association of VDR FokI, ApaI, and BsmI genotypic distribution frequency with the risk of breast cancer. Materials and Methods: The case-control study included 220 samples, including 110 breast cancer patients and 110 agematched control women aged 30-70 years. The Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) genotyping was performed using Deoxyribonucleic acid (DNA) extracted from blood, and the circulating levels of 25-hydroxyvitamin D by case/control were estimated by chemiluminescence immunoassay. Results: The 3’ VDR polymorphism BsmI sequence showed minimal association with breast cancer risk. The bb genotype had a significantly lower odds ratio of 0.056 (p-value&lt;0.05). Conversely, the BB and Bb genotypes exhibited no statistically significant associations with odds ratios of 1.76 (95% CI: 0.36-8.54; p-value&gt;0.05) and 1.30 (95% CI: 0.27- 6.25; p-value&gt;0.05), respectively. Isolated analysis of the FokI variant revealed a significant association with increased breast cancer risk, with odds ratios of 5.49 (FF) and 6.00 (Ff), both demonstrating statistical significance (p-value&lt;0.05), and a Chi-square value of 0.006. Additionally, the p-value for serum Vitamin D levels was found to be highly significant at p-value&lt;0.001, indicating that the levels were significantly lower in individuals newly diagnosed with breast cancer compared to those in the healthy control group. Conclusion: The study found a significant link between breast cancer susceptibility and VDR (FokI) polymorphism FF and Ff genotypes, with minimal impact observed for (BsmI) polymorphism bb genotype. This implies that certain genetic variations, especially in the FokI polymorphism of the VDR gene, are associated with an elevated risk of breast cancer.

Genetic Risk of Rheumatoid Arthritis: A Case Control Study

Vitamin D effects are mediated by vitamin D receptors (VDRs), which are influenced by various genetic polymorphisms, including ApaI and BsmI. These polymorphisms have been linked to several diseases, including rheumatoid arthritis (RA). This study aimed to compare the frequency and association of VDR ApaI and BsmI gene polymorphisms, serum 25-hydroxy vitamin D (25-(OH)-D) levels, and calcium (Ca) levels between a RA group and a matched healthy control group. In one hundred RA patients and fifty healthy controls, the genotypes of the VDR ApaI and BsmI gene polymorphisms were analyzed using polymerase chain reaction restriction fragment length polymorphisms (PCR-RFLP). Both Serum 25-(OH)-D level and calcium level were measured in the two groups. There was no significant difference between the cases and controls regarding the VDR ApaI gene polymorphism (p = 0.89). A significant difference was observed between the cases and controls in terms of the VDR BsmI gene polymorphism (p = < 0.001). The serum levels of 25-(OH)-D and calcium were significantly lower in the RA group compared to the control group (p = 0.04 and < 0.001 respectively). Significantly higher serum vitamin D levels were associated with the aa genotype (p = 0.007). Significantly increased calcium levels were associated with the AA genotype (p = 0.02). No significant difference was found among BsmI polymorphisms regarding vitamin D and Ca levels (p = 0.25 and 0.87 respectively). Vitamin D receptor gene BsmI polymorphism but not ApaI polymorphism could be a marker of RA susceptibility. Vitamin D and Ca levels are negatively affected by RA. Vitamin D receptor gene ApaI polymorphism contributes to vitamin D and Ca levels.

Effect of vitamin D receptor gene BsmI polymorphism on hospitalization of SARS-CoV-2 positive patients

Low vitamin D levels and adverse effects have been reported in SARS-COV-2 positive patients. This study examined the effect of the vitamin D receptor gene BsmI polymorphism on SARS-COV-2 positive patients. A total of 80 SARS-COV-2 positive inpatients were included in the study, and 110 healthy individuals were included as a control group. The 25-(OH) vitamin D3, lymphocyte, and activated partial thromboplastin time levels of SARS-COV-2 positive patients were lower than those of the control group. The prothrombin time (PT), international normalized ratio (INR), D-dimer, C-reactive protein (CRP), procalcitonin, and ferritin levels of SARS-COV-2 positive patients were higher than those of the control group. A negative correlation was found between 25-(OH) vitamin D3 levels and white blood cell count, PT, INR, D-dimer, CRP, procalcitonin, and ferritin levels in SARS-COV-2 positive patients. The 25-(OH) vitamin D3 level in individuals with the BB genotype was higher than the 25-(OH) vitamin D3 level in individuals with the Bb and bb genotype. A statistically significant difference was found between the groups in terms of the genotype and allele distributions of BsmI polymorphism. When the genotypes were analyzed in terms of bb versus Bb + BB, a statistically significant difference was found between the groups. However, this finding was not found between the intensive care inpatient subgroup and the other inpatient subgroup. In conclusion, BsmI b allele and bb genotype were associated with hospitalization for SARS-COV-2 infection. This may be because individuals with b allele have low levels of vitamin D.

A Comprehensive Look at the -13910 C>T LCT Gene Polymorphism as a Molecular Marker for Vitamin D and Calcium Levels in Young Adults in Central and Eastern Europe: A Preliminary Study.

Intolerance to dairy products resulting from the abnormal digestion of milk sugar (lactose) is a common cause of human gastrointestinal disorders. The aim of this study was to show that the -13910 C>T LCT gene polymorphism, together with genotypes of selected VDR gene polymorphisms and diet and nutritional status parameters, can impact the prevalence of vitamin D and calcium deficiency in young adults. This study was conducted on a group of 63 people, which comprised 21 individuals with primary adult lactase deficiency, and a control group of 42 individuals with no hypolactasia. The LCT and VDR gene genotypes were assessed using PCR restriction fragment length polymorphism (PCR-RFLP) analysis. A validated HPLC method was used to determine serum concentrations of 25(OH)D2 and 25(OH)D3. Atomic absorption spectrometry was used to determine calcium levels. Their diets (self-reported 7-day estimated food record), estimated calcium intakes based on the ADOS-Ca questionnaire and basic anthropometric parameters were assessed. The CC genotype associated with hypolactasia was found in 33.3% of the subjects. The presence of the CC variant of the LCT gene polymorphism in the study group of young Polish adults was found to be associated with significantly lower milk (134.7 ± 66.7 g/d vs. 342.5 ± 176 g/d; p = 0.012) and dairy product consumption (78.50 ± 36.2 g/d vs. 216.3 ± 102 g/d; p = 0.008) compared with lactase persistence. At the same time, people with adult-type primary intolerance were found to have statistically significant lower serum levels of vitamin D and calcium (p < 0.05). There was a higher chance of vitamin D and calcium deficiency and a lower intake in the group exhibiting lactase non-persistence (OR > 1). The AA variant of the VDR gene's BsmI polymorphism present in people with hypolactasia may further contribute to an increased risk of vitamin D deficiency. Exclusion of lactose from the diet, combined with impaired vitamin D metabolism, may also lead to inhibited calcium absorption by the body. Further research should be carried out on a larger group of subjects to clarify the relationship between lactase activity and vitamin D and calcium levels in young adults.

Vitamin D receptor (BsmI) gene polymorphism and allele frequency among chronic kidney disease patients in south Indian population.

The vitamin D receptor (VDR) axis plays an important role in multiple physiological renal functions. BsmI gene is one among the VDR gene plays a vital role in maintaining this VDR axis and any polymorphism in VDR gene will cause dysfunction of renal tissues. The main objective of the study is to study the link between BsmI VDR gene polymorphism and Chronic Kidney Disease (CKD). This was a case-control study, which includes 100 cases and 100 controls. BsmI gene analysis was done by polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP). Among 100 CKD study participants, BB (wild-type) genotype of BsmI gene was present in 7 patients (7%), Bb (heterozygous) genotype was present in 23 patients (23%) and bb (mutant) genotype was present in 70 patients (70%). And among 100 controls, 92 subjects were found to have BB genotype and 8 subjects were found to have Bb genotype and none of subjects were found to have bb genotypes. CKD patients with Bb and bb genotypes were found to have significantly elevated serum urea, creatinine and decreased Glomerular Filtration Rate (GFR) when compared to the BB genotype of BsmI gene. 'b' allele of BsmI gene, Bb and bb genotypes of BsmI gene plays a greater role in Guanine/Adenine single nucleotide polymorphism of BsmI gene in CKD.

Vitamin D Receptor Polymorphisms Among the Turkish Population are Associated with Multiple Sclerosis.

Multiple sclerosis (MS) is an inflammatory disease characterized by demyelination and axonal degeneration affecting the central nervous system. Among the genetic factors suggested to be associated with this disease are polymorphisms to the vitamin D receptor (VDR) gene. We tested the hypothesis that polymorphisms in the vitamin D receptor (VDR) gene are associated with MS. The aim of the study was to investigate the relationship of MS with the VDR gene Fok-I, Bsm-I and Taq-I polymorphisms among the Turkish population. This study contains 271 MS patients and 203 healthy controls. Genomic DNA was isolated from the samples and the VDR gene Fok-I, Bsm-I and Taq-I polymorphism regions were amplified by polymerase chain reaction (PCR). The PCR products were digested, and the genotypes were determined based on size of digested PCR products. Our results demonstrate associations between MS and the distribution of the VDR gene Fok-I T/T polymorphism genotype in a dominant model, VDR gene Fok-I T allele frequency, distribution of VDR gene Taq-I C/C polymorphism genotype in a dominant model and VDR gene Taq-I C allele frequency (Pearson test, p<0.05). However, there was no association between MS and the VDR gene Bsm-I polymorphisms for the genotype distribution (Pearson test, p>0.05) or allele frequency (Pearson test, p>0.05). Fok-I and Taq-I VDR gene polymorphisms are significantly associated with MS in dominant, homozygote and heterozygote inheritance models among the Turkish population.

Оцінка ризику розвитку соматотропної недостатності залежно від розподілу частот алелей і генотипів поліморфного локусу rs1544410 BsmI гена рецептора вітаміну D

Growth hormone deficiency (GHD) is a disease caused by a significant disturbance in the growth hormone (GH) /growth factor system, it occures as a result of various hereditary or acquired causes and is characterized, first of all, by a significant delay in the child's growth and physical development. GHD can be isolated or combined with deficiency of other adenohypophysis hormones. The presence of a relationship between the GH /growth factor system and vitamin D (vit D) determines the involvement of genetic changes in the vit D receptor (VDR) in the pathogenesis of GHD. Purpose - to assess the risk of developing GHD based on the investigation of the distribution of allele frequencies and genotypes of the polymorphic locus rs1544410 BsmI of the VDR gene. Materials and methods. The determination of VDR BsmI gene (rs1544410) polymorphism was performed using the polymerase chain reaction method, followed by analysis of the length of restriction fragments upon their detection by agarose gel electrophoresis in 22 prepubertal children with GHD. The serum 25-hydroxycalciferol (25(OH)D) level was determined by immunochemiluminescent method on microparticles (Abbott, USA). Results. G/A allele was most often found in children with isolated GHD and multiple pituitary insufficiency (MPH) (43.8% and 83.3%, respectively). In the presence of G/A and G/G genotypes, the risk of GHD is reliably high: OR=3.60 (95% CI 1.40-9.23); OR=10.69 (95% CI 2.34-48.85) respectively; with the A/A genotype variant the risk of GHD is reliably low OR=0.11 (95% CI 0.04-0.33). Carrying the G allele of the polymorphic locus rs1544410 Bsm I of the VDR gene is associated with the risk of developing GHD OR=5.58 (95% CI 4.51-6.90; p&lt;0.001). A significantly difference in the peak GH release was established in patients carrying the G/G and A/A, G/G and G/A alleles. 83.33% of children with MPH and 68.49% with isolated GHD had hypovitaminosis D. Vit D deficiency was recorded in carriers of all three types of alleles. Conclusions. In the presence of G/A and G/G genotypes, the risk of GHD increases, in the presence of the A/A genotype, it decreases. The G allele carrier of the polymorphic locus rs1544410 Bsm I of the VDR gene is associated with the risk of developing GHD OR=5.58 (95% CI 4.51-6.90; p&lt;0.001), despite the ideal distribution of genotypes. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of all participating institutions. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.

GENETIC FEATURES OF CHILDREN WITH IDIOPATHIC SHORT STATURE.

The aim: To investigate the clinical and genetic characteristics of children with idiopathic short stature, taking into account the polymorphism of the vitamin D receptor (VDR) BsmI gene. Materials and methods: Eighteen children diagnosed with of idiopathic short stature who were treated at the State Institution «V.P. Komisarenko Institute of Endocrinology and Metabolism of the National Academy of Medical Sciences of Ukraine» were examined. The following values were taken into account: the patient's sex and age, anthropometric data, vitamin D level in the blood (excluding summer months of patient recruitment), bone age, basal growth hormone (GH) level and its level after stimulation tests (clonidine, insulin), IGF-1 levels, blood levels of total and ionized calcium and VDR gene polymorphism. Results: The A allele carriers of the polymorphic locus BsmI (rs1544410) of the VDR gene are significantly associated with the risk of developing idiopathic short stature OR = 4.47 (95% CI 2.11-9.48; p <0.05). The risk of idiopathic short stature is significantly higher OR = 9.33 (95% CI 3.09-28.16; p <0.05) in children with the presence of the G/A genotype. Vitamin D deficiency (43.83 ± 6.47 nmol/l) was found in children with the BsmI polymorphic variant G/G VDR, and vitamin D insufficiency was found in children with BsmI polymorphic variants G/A and A/A VDR (58.14 ± 20.05 and 51.58 ± 22.84 nmol/l, respectively). Conclusions: The data obtained regarding the polymorphic locus BsmI (rs1544410) of the of VDR gene cannot exclude it's the involvement in the pathogenesis of idiopathic short stature.

Comparing the VDR Gene BsmI and CDX2 Polymorphisms in Healthy Turks and Healthy Somalians Living in Turkiye

Objectives: This study aimed to evaluate genotypic and allelic differences by comparing the Vitamin D (Vit-D) receptor (VDR) gene BsmI (rs1544410) and CDX2 (rs11568820) polymorphisms in healthy Turks and healthy Somalians living in Turkiye. Materials and Methods: The study involved 100 healthy Turkish individuals and 60 healthy Somali individuals residing in Turkiye for at least 5 years. The genotyping study was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP) and allele-specific PCR methods. Statistical analysis was performed to identify the possible differences between groups using the Chi-square and Student’s t tests for pair-wise comparisons. Results: According to the data obtained in the study with regard to the BsmI (rs1544410 A/G) and CDX2 (rs11568820 A/G) genotypes, no statistically significant difference was determined to be present regarding the frequency of carrying the mutant GG genotype in the two groups (p = 0.95 and p = 0.221, respectively). Conclusion: The study has found no significant genotypic or allelic difference to be present in terms of the BsmI (rs1544410) and CDX2 (rs11568820) gene variants between healthy Turkish individuals and Somali individuals who have spent most of their lives exposed to less sunlight while living in Turkiye for the past five years.

Polymorphism of VDR (Bsml) gene in patients with atopic dermatitis

Objective — to study the significance of the BsmI (rs1544410) gene of the VDR as a genetic molecular marker of the risk of atopic dermatitis (AD) development.&#x0D; Materials and methods. The study included 54 patients with atopic dermatitis (the main group). The control group consisted of 32 people. All of the participants of this study lived in Podilliya region and had Ukrainian origin. The method of allele detection is based on the polymorphism of the length of restriction fragments that are obtained after treatment with certain restriction enzymes. BsmI polymorphism was studied, the international polymorphism code is rs1544410. Correct distribution of genotype frequencies was determined in accordance with Hardy—Weinberg’s law. Statistically significant differences were considered at p &lt; 0.05.&#x0D; Results and discussion. Analysis of the genotypes of single nucleotide polymorphism rs1544410 of VDR gene in patients with atopic dermatitis showed the predominance of the heterozygous variant (G/A). However, the proportion of allele A reached (47.2 ± 3.7) %, which may indicate a significant number of people with increased risk of atopic dermatitis development. According to our study of the single nucleotide polymorphism of the BsmI gene of the VDR among the subjects of the control group, the percentage of A/A-­genotype carriers was significantly lower than that of individuals with G/G­ (р = 0.028) and G/A-genotype (р = 0.023). While comparing the distribution of genotypes and alleles of single-nucleotide polymorphism BsmI VDR gene among individuals of the main and the control groups, we noted that allele A was more common in patients with atopic dermatitis (47.2 vs. 39.07 %, (OR 1.412; 95 % SI 0.203—0.978; р = 0.271). According to the obtained data, the carriers of the A/A-genotype dominated among the patients with severe atopic dermatitis, in contrast to the patients with a moderate course of the disease in whom G/A-genotype predominated. Carriers of the G/A- and G/G-genotypes also predominated among the patients with a mild course of the disease. Their number was significantly higher than that of the patients with the A/A-genotype (p &lt; 0.05).Conclusions. Polymorphism of the VDR rs1544410 gene may be associated with an increased risk of atopic dermatitis development. Carriers of A/A-genotype of VDR rs1544410 gene are more common among patients with atopic dermatitis than among healthy persons of the control group.

АССОЦИАЦИИ ПОЛИМОРФИЗМОВ RS1544410 И RS10735810 ГЕНА VDR С ОТДЕЛЬНЫМИ ПОКАЗАТЕЛЯМИ СЫВОРОТКИ КРОВИ В ДИНАМИКЕ ЛЕЧЕНИЯ ПОСТМЕНОПАУЗАЛЬНОГО ОСТЕОПОРОЗА

The role of VDR gene BsmI (rs1544410) and FokI (rs10735810) polymorphisms in postmenopausal osteoporosis formation has been confirmed by the results of fairly large number of studies. However, pharmacogenetic aspects of above polymorphisms have not been adequately studied. The aim of this work is to study the serum levels of certain biochemical parameters, bone turnover markers, vitamin D and parathyroid hormone in women with postmenopausal osteoporosis in the dynamics of treatment by ibandronic acid, depending on VDR gene rs1544410 and rs10735810 polymorphisms.&#x0D; We examined 117 women in dynamics of postmenopausal osteoporosis treatment. The 12-month course therapy included ibandronic acid, calcium and cholecalciferol according to the standard regimen. Detection of genetic polymorphisms was carried out by polymerase chain reaction method in real time. Twice, before the therapy start and at the end of one, the basic biochemical parameters, as well as β-Crosslaps, osteocalcin, 25(OH) D and parathyroid hormone were studied in women blood serum.&#x0D; Women with postmenopausal osteoporosis in treatment dynamics are characterized by significant decrease in serum β-CrossLaps, osteocalcin and alkaline phosphatase (p&lt;0.01), as well as an increase in 25(OH)D concentrations (p&lt;0.01). Prior to the initiation of therapy, GG genotype of the rs10735810 polymorphism of the VDR gene was associated with lower osteocalcin concentrations than in AA genotype (p&lt;0.01). Holders of GG genotype of VDR gene rs1544410 polymorphism, in comparison with other women, are characterized (p&lt;0.01) by lower levels of alkaline phosphatase (before treatment) and calcium (before and after treatment), higher levels of parathyroid hormone (before and after treatment).&#x0D; The obtained results can be used to develop personalized antiresorptive therapy regimens in postmenopausal osteoporosis.

Relationship Between Vitamin D Receptor Gene BsmI Polymorphism and Fibromyalgia Syndrome.

PurposeVitamin D receptor (VDR) has been proposed as a possible marker for fibromyalgia syndrome (FMS). The purpose of this study is to characterize the expression pattern of BsmI polymorphism (rs1544410) in the VDR gene in women with FMS and the genotype-phenotype association.MethodsA total of 105 FMS patients and 105 controls were included in this study. VDR gene BsmI polymorphism was assessed by polymerase chain reaction (PCR) and restriction fragment length polymerase (RFLP) method.ResultsThere was no significant difference in the frequency distribution of both genotypes and alleles for VDR gene BsmI polymorphism between FMS patients and controls (p>0.05). The frequencies of BB, Bb, and bb in the VDR gene BsmI polymorphism were 19%, 43%, and 37% in patients, while in controls were 22.9%, 55.2%, and 21.9%. However, we did not find any significant association between the clinical symptoms of this disease and VDR BsmI genotypes among FMS patients (p>0.05).ConclusionsThe relationship between the VDR gene BsmI polymorphism and FMS could not be determined in this study. However, further studies with a larger sample size may be required to show a relation between the VDR gene BsmI polymorphism and FMS.