scholarly journals Association of CYP27B1 Polymorphism and Vitamin D Levels with Multiple Sclerosis Development in Lebanese Population of Bekaa Region: A Preliminary Study

2021 ◽  
Vol 5 (1) ◽  
pp. 18
Author(s):  
Sumaia Braidy ◽  
Alaa Maan Matar ◽  
Jamilah Borjac
Keyword(s):  
Multiple Sclerosis ◽  
Vitamin D ◽  
Environmental Factors ◽  
Vitamin D Deficiency ◽  
Nucleotide Polymorphisms ◽  
Chi Square ◽  
Vitamin D Metabolism ◽  
Vitamin D Levels ◽  
And Gender ◽  
Cytochrome P450 Family

Multiple sclerosis (MS) is a neurodegenerative disease of the central nervous system (CNS). Interaction between genetic and environmental factors guides the development of the disease. Among environmental factors, vitamin D deficiency is shown to increase the risk of MS development. Several single nucleotide polymorphisms (SNPs) in cytochrome P450 family 27 subfamily B (CYP27B1) gene that encodes the rate-limiting enzyme involved in vitamin D metabolism, were shown to be correlated with MS. We aimed at investigating the association of CYP27B1 gene polymorphisms and vitamin D level with MS development in a sample of Lebanese MS patients living in the Bekaa region. Enrolled MS patients and controls were age and gender matched. Genotyping was performed by sequencing the amplified CYP27B1 PCR products. Vitamin D levels were measured using a VIDAS® 25 OH Vitamin D total assay based on enzyme linked fluorescent assay (ELFA). Chi-square and Mann-Whitney U tests were used for statistical analysis. A significant association was shown between vitamin D deficiency and MS without any association between CYP27B1 studied SNPs and the disease. We confirmed that vitamin D deficiency was associated with MS with no implication of the studied SNPs of CYP27B1 gene with disease susceptibility among the Lebanese MS patients living in the Bekaa region.

scholarly journals Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis

2009 ◽  
Vol 16 (2) ◽  
pp. 133-138 ◽  
Author(s):  
K. Claire Simon ◽  
Kassandra L Munger ◽  
Xing Yang ◽  
Alberto Ascherio
Keyword(s):  
Multiple Sclerosis ◽  
Vitamin D ◽  
Conditional Logistic Regression ◽  
Dietary Vitamin ◽  
Environment Interaction ◽  
Nucleotide Polymorphisms ◽  
Vitamin D Metabolism ◽  
Logistic Regression Models ◽  
Gene Environment ◽  
Vitamin D Levels

The extent to which potential genetic determinants of vitamin D levels may be related to multiple sclerosis (MS) risk has not been thoroughly explored. The objective of this study was to determine whether polymorphisms in VDR, CYP27B1, CYP24A1, CYP2R1 and DBP are associated with the risk of MS and whether these variants may modify associations between environmental or dietary vitamin D on MS risk. A nested case-control study was conducted in two, large cohorts of US nurses, including 214 MS cases and 428 age-matched controls. Conditional logistic regression models were used to calculate relative risks (RR) and 95% confidence intervals (CIs) and to assess the significance of gene—environment interactions. No associations were observed for any of the single-nucleotide polymorphisms (SNPs) in VDR, CYP27B1, CYP24A1, CYP2R1 or DBP (p > 0.05 for all). The authors did observe an interaction (p = 0.04) between dietary intake of vitamin D and the vitamin D receptor FokI polymorphism on MS risk. The protective effect of increasing vitamin D was evident only in individuals with the ‘ff ’ genotype (RR = 0.2, 95% CI: 0.06, 0.78; p = 0.02 for 400 IU/day increase). It was concluded that this does not support a role for the selected SNPs involved in vitamin D metabolism in the etiology of MS. The finding of a marginally significant gene—environment interaction requires replication in larger datasets, but suggests future genetic studies may benefit from considering relevant environmental context.

scholarly journals Vitamin D and Rehabilitation after Stroke: Status of Art

2020 ◽  
Vol 10 (6) ◽  
pp. 1973 ◽  
Author(s):  
Mariacristina Siotto ◽  
Massimo Santoro ◽  
Irene Aprile
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Stroke Recovery ◽  
Stroke Severity ◽  
Nucleotide Polymorphisms ◽  
Stroke Patients ◽  
Vitamin D Metabolism ◽  
Rehabilitation Treatment ◽  
Post Stroke ◽  
Vitamin D Levels

Stroke is the first cause of disability in the population and post-stroke patients admitted to rehabilitation units often present a malnutrition status which can influence nutritional indices and then vitamin levels. Vitamin D deficiency seems implicated beyond stroke severity and stroke risk, and also affects post-stroke recovery. Some studies on vitamin D levels and outcome in stroke patients are available but very few data on vitamin D levels and outcome after rehabilitation treatment are reported. This literature review shows the possible relationship between vitamin D deficiency and recovery in post-stroke patients undergoing rehabilitation treatment. Moreover, because several studies have reported that single nucleotide polymorphisms and promoter methylation in genes are involved in vitamin D metabolism and might affect circulating vitamin D levels, these aspects are evaluated in the current paper. From the studies evaluated in this review, it emerges that vitamin D deficiency could not only have an important role in the recovery of patients undergoing rehabilitation after a stroke, but that genetic and epigenetic factors related to vitamin D levels could have a crucial role on the rehabilitation outcome of patients after stroke. Therefore, further studies are necessary on stroke patients undergoing rehabilitation treatment, including: (a) the measurement of the 25(OH) vitamin D serum concentrations at admission and post rehabilitation treatment; (b) the identification of the presence/absence of CYP2R1, CYP27B1, CYP24A1 and VDR polymorphisms, and (c) analysis of the methylation levels of these genes pre- and post-rehabilitation treatment.

scholarly journals Role of gene polymorphisms in vitamin D metabolism and in multiple sclerosis

2018 ◽  
Vol 69 (1) ◽  
pp. 25-31 ◽  
Author(s):  
Aylin Elkama ◽  
Bensu Karahalil
Keyword(s):  
Multiple Sclerosis ◽  
Vitamin D ◽  
Environmental Factors ◽  
Gene Polymorphisms ◽  
Neurological Impairment ◽  
Vitamin D Metabolism ◽  
Vitamin D Levels ◽  
The Central Nervous System ◽  
Genetic And Environmental Factors

Abstract Multiple sclerosis (MS) is a complex inflammatory disease of the central nervous system (CNS) resulting in neurological impairment and disability. There is evidence that adequate vitamin D levels may lower the risk of MS development. The aetiology of MS is complex and involves both genetic and environmental factors. In fact, not one but several genes are believed to lead to the disease. As for environmental factors, one of the most important risk factors is vitamin D deficiency, which, in turn, is closely related to gene polymorphisms that play a role in vitamin D metabolism and regulation. However, information about these gene polymorphisms is quite contradictory. The aim of this review is to discuss the association between some of the vitamin D-related gene variants and MS.

Prevalence of vitamin D deficiency in Iran: A systematic review and meta-analysis

2018 ◽  
Vol 24 (4) ◽  
pp. 269-278 ◽  
Author(s):  
Salam Vatandost ◽  
Marzieh Jahani ◽  
Ali Afshari ◽  
Mohammad Reza Amiri ◽  
Rashid Heidarimoghadam ◽  
...  
Keyword(s):  
Systematic Review ◽  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Meta Analysis ◽  
Random Effect ◽  
National Level ◽  
Age Groups ◽  
Design Strategies ◽  
Chi Square ◽  
And Gender

Background: The prevalence of vitamin D deficiency in the Iranian community is very high. Women and older people are at the higher risk of vitamin D deficiency. Aim: This study aimed to estimate the prevalence of vitamin D deficiency in Iran by combining the results of various studies. Methods: This was a systematic review and meta-analysis. Separate strategies were developed for search in national databases (Irandoc, Magiran, SID) and international databases (Web of Science, PubMed, and Scopus) using the keywords of “vitamin D deficiency,” “Iran,” and “prevalence.” The titles and abstracts of the articles were screened and related full texts were appraised. Those articles that met inclusion criteria were selected for meta-analysis. The heterogeneity of the articles was assessed via the Chi-square test. They were combined using the random-effect approach. In addition, the groups were categorized and analyzed in terms of age and gender. Results: Of 639 articles, 30 articles with a sample size of 26,042 people were included for data analysis. The overall prevalence of vitamin D deficiency was reported as 0.56. Subgroup analysis showed that 0.64 of women and 0.44 of men were suffering from vitamin D deficiency. The prevalence of vitamin D deficiency in the age groups under 20, 20–50, and over 50 years was 0.56.4, 0.72.4, and 0.59.8, respectively. Conclusions: The Iranian Ministry of Health is expected to design strategies to improve the status of vitamin D at the national level.

Contribution of CYP27B1 and CYP24A1 genetic variations to the incidence of acute coronary syndrome and to vitamin D serum level

2019 ◽  
Vol 97 (12) ◽  
pp. 1152-1158 ◽  
Author(s):  
Marina Sherif Fam ◽  
Sally I. Hassanein ◽  
Mohamed Farouk Abdel Rahman ◽  
Reem Amr Assal ◽  
Rasha Sayed Hanafi ◽  
...  
Keyword(s):  
Vitamin D ◽  
Acute Coronary Syndrome ◽  
Ultra Performance Liquid Chromatography ◽  
Genetic Variations ◽  
Nucleotide Polymorphisms ◽  
Vitamin D Metabolism ◽  
Public Health Burden ◽  
Hydroxyvitamin D ◽  
Coronary Syndrome ◽  
Vitamin D Levels

Cardiovascular diseases remain a major public health burden worldwide. It was reported that vitamin D protects the cardiovascular system through several mechanisms mainly by hindering atherosclerosis development. Genetic variations in vitamin D metabolic pathway were found to affect vitamin D levels. This study aimed at investigating the association between single nucleotide polymorphisms in genes involved in vitamin D metabolism, CYP27B and CYP24A1; 25-hydroxyvitamin D (25(OH)D) levels; and susceptibility to acute coronary syndrome (ACS). One hundred and eighty-five patients and 138 healthy controls were recruited. CYP24A1 rs2762939 was genotyped using fast real-time PCR, while CYP24A1 rs4809960 and CYP27B1 rs703842 were genotyped using polymerase chain reaction followed by restriction fragment length polymorphism (PCR–RFLP). 25(OH)D3 and 25(OH)D2 levels were measured using ultra-performance liquid chromatography tandem mass spectrum. Vitamin D level was significantly lower in patients than controls (p < 0.05). The GG genotype of rs2762939 was significantly associated with the risk of ACS development, but not correlated to the vitamin D level. rs4809960 and rs703842 genetic variations were not associated with ACS nor with 25(OH)D level. The genetic variant rs2762939 of CYP24A1 is remarkably associated with ACS. Meanwhile, the variants rs4809960 and rs703842 are not associated with ACS incidence.

scholarly journals Vitamin D-Related Genes, Blood Vitamin D Levels and Colorectal Cancer Risk in Western European Populations

Nutrients ◽  
2019 ◽  
Vol 11 (8) ◽  
pp. 1954 ◽  
Author(s):  
Veronika Fedirko ◽  
Hannah Mandle ◽  
Wanzhe Zhu ◽  
David Hughes ◽  
Afshan Siddiq ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Vitamin D ◽  
Multiple Testing ◽  
A Priori ◽  
Nucleotide Polymorphisms ◽  
Multiple Testing Correction ◽  
Vitamin D Metabolism ◽  
Gene Pathway ◽  
Vitamin D Levels ◽  
Large Populations

Higher circulating 25-hydroxyvitamin D levels (25(OH)D) have been found to be associated with lower risk for colorectal cancer (CRC) in prospective studies. Whether this association is modified by genetic variation in genes related to vitamin D metabolism and action has not been well studied in humans. We investigated 1307 functional and tagging single-nucleotide polymorphisms (SNPs; individually, and by gene/pathway) in 86 vitamin D-related genes in 1420 incident CRC cases matched to controls from the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort. We also evaluated the association between these SNPs and circulating 25(OH)D in a subset of controls. We confirmed previously reported CRC risk associations between SNPs in the VDR, GC, and CYP27B1 genes. We also identified additional associations with 25(OH)D, as well as CRC risk, and several potentially novel SNPs in genes related to vitamin D transport and action (LRP2, CUBN, NCOA7, and HDAC9). However, none of these SNPs were statistically significant after Benjamini–Hochberg (BH) multiple testing correction. When assessed by a priori defined functional pathways, tumor growth factor β (TGFβ) signaling was associated with CRC risk (P ≤ 0.001), with most statistically significant genes being SMAD7 (PBH = 0.008) and SMAD3 (PBH = 0.008), and 18 SNPs in the vitamin D receptor (VDR) binding sites (P = 0.036). The 25(OH)D-gene pathway analysis suggested that genetic variants in the genes related to VDR complex formation and transcriptional activity are associated with CRC depending on 25(OH)D levels (interaction P = 0.041). Additional studies in large populations and consortia, especially with measured circulating 25(OH)D, are needed to confirm our findings.

Vitamin D levels and risk of multiple sclerosis in patients with clinically isolated syndromes

2013 ◽  
Vol 20 (2) ◽  
pp. 147-155 ◽  
Author(s):  
Vittorio Martinelli ◽  
Gloria Dalla Costa ◽  
Bruno Colombo ◽  
Dacia Dalla Libera ◽  
Alessandro Rubinacci ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Serum Vitamin ◽  
Brain Magnetic Resonance Imaging ◽  
Hydroxyvitamin D ◽  
Serum Vitamin D ◽  
Clinically Isolated Syndromes ◽  
Vitamin D Levels ◽  
Magnetic Resonance Imaging Mri

Background: Growing evidence suggests that vitamin D deficiency may be one of the most important environmental factors for the development of multiple sclerosis (MS). Objectives: The objectives of this paper are to evaluate serum 25-hydroxyvitamin D (25(OH)D) levels in patients with clinically isolated syndromes (CIS) and to examine whether they are related to MS risk. Methods: This is a retrospective study of 100 CIS patients hospitalized from 2000 to 2009 at San Raffaele Hospital, Milan, Italy. We evaluated baseline 25(OH)D level as well as clinical, brain magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) data. Results: A total of 52% of CIS patients had vitamin D deficiency (25(OH)D < 50 nmol/l). During follow-up (median: 7.17 years), 55 patients developed clinically definite MS (CDMS). Patients with very low (< 10th percentile) and low (< 25th percentile) 25(OH)D levels were particularly at risk of CDMS (HRs (95% CIs): 2.12 (0.91–4.96) and 1.61 (0.85–3.03), respectively), while no further reduction in the HRs of disease was observed at high levels of 25(OH)D. This association was even stronger after adjustment for additional risk factors for CDMS development (HRs (95% CIs) for 25(OH)D levels < 10th and 25th percentiles: 3.34 (1.32–8.45) and 2.04 (0.96–4.36), respectively). Conclusion: Low serum vitamin D is associated with increased MS risk in patients with CIS.

scholarly journals Polymorphisms CYP2R1 rs10766197 and CYP27B1 rs10877012 in Multiple Sclerosis: A Case-Control Study

2021 ◽  
Vol 2021 ◽  
pp. 1-11
Author(s):  
A. Martinez-Hernandez ◽  
E. E. Perez-Guerrero ◽  
M. A. Macias-Islas ◽  
C. A. Nava-Valdivia ◽  
A. Villagomez-Vega ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Vitamin D ◽  
Disease Progression ◽  
Case Control Study ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Increased Risk ◽  
Vitamin D Levels ◽  
25 Oh Vitamin D ◽  
Control Study

Background. Multiple sclerosis (MS) is a chronic autoimmune inflammatory disease. Low vitamin D levels have been reported to be a risk factor for MS, and genetic variances could be implicated. The aim of this study was to evaluate the association of MS with rs10766197 polymorphism of CYP2R1 gene and rs10877012 polymorphism of CYP27B1 gene. The second aim was to analyse whether these polymorphisms are associated with the severity of the progression of MS. Material and Methods. In a case-control study, we included 116 MS patients and 226 controls, all of whom were Mexican Mestizo. MS was diagnosed by McDonald criteria (2017). A complete neurological evaluation was performed to evaluate the severity of disease progression. Serum 25-hydroxyvitamin D [25(OH) vitamin D] levels were measured by ELISA. Single nucleotide polymorphisms rs10766197 of CYP2R1 gene and rs10877012 SNP of CYP27B1 gene were genotyped by real-time PCR. Results. Serum 25(OH) vitamin D levels were lower in MS patients than in controls ( p = 0.009 ). No differences were observed between serum 25(OH) vitamin D levels of MS patients with severe progression compared to low progression ( p = 0.88 ). A higher frequency of the A allele of CYP2R1 rs10766197 was observed between MS patients and controls ( p = 0.05 ). No differences were observed in the frequency of T allele of CYP27B1 rs10877012 ( p = 0.65 ). In subanalysis, patients with GA + AA genotypes of CYP2R1 rs10766197 had an increased risk of MS compared to controls ( p = 0.03 ). No increased risk was observed in GT + TT genotypes of CYP27B1 rs10877012 ( p = 0.63 ). No differences were observed in allele frequencies of either polymorphism between patients with severe vs. low disease progression. Conclusion. Lower serum 25(OH) vitamin D levels were observed in MS patients than in controls, although these levels were not associated with disease progression. Carriers of GA + AA genotypes of CYP2R1 rs10766197 had an increased risk of MS. None of these polymorphisms was associated with severe progression of MS.

scholarly journals Vitamin D Metabolism Is Significantly Impaired in COVID-19 Inpatients

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A281-A282
Author(s):  
Alexandra Povaliaeva ◽  
Liudmila Ya Rozhinskaya ◽  
Ekaterina A Pigarova ◽  
Larisa K Dzeranova ◽  
Nino N Katamadze ◽  
...  
Keyword(s):  
Vitamin D ◽  
Secondary Hyperparathyroidism ◽  
Vitamin D Deficiency ◽  
Serum Calcium ◽  
Vitamin D Supplementation ◽  
Vitamin D Metabolites ◽  
Lung Involvement ◽  
Hydroxylase Activity ◽  
Vitamin D Metabolism ◽  
Vitamin D Levels

Abstract Objective: to assess the state of vitamin D metabolism in patients hospitalized with COVID-19 infection. Materials and methods: We examined 49 patients, which were hospitalized for inpatient treatment of COVID-19 infection from May to June 2020. Study group included 24 men (49%) and 25 women (51%), median age 58 years [48; 70], BMI 26.4 kg/m2 [24.3; 30.5]. All patients were diagnosed with pneumonia due to SARS-CoV-2 with median percent of lung involvement equal to 29% [14; 37], 22 patients (45%) required oxygen support upon admission. Median SpO2 was equal to 95% (92; 97), median NEWS score was equal to 3 [2; 6]. Participants were tested for vitamin D metabolites (25(OH)D3, 1,25(OH)2D3, 3-epi-25(OH)D3, 24,25(OH)2D3 and D3) by UPLC-MS/MS, free 25(OH)D and vitamin D-binding protein by ELISA, as well as PTH by electrochemiluminescence immunoassay and routine biochemical parameters of blood serum (calcium, phosphorus, albumin) at the time of admission. Results: patients had in general very low 25()D3 levels - median 10.9 ng/mL [6.9; 15.6], corresponding to a pronounced vitamin D deficiency in half of the patients. Levels of 24,25(OH)2D3 were also low – 0.5 ng/mL [0.2; 0.9], and resulting vitamin D metabolite ratios (25(OH)D3/24,25(OH)2D3) were high-normal or elevated in most patients – 24.1 [19.0; 39.2], indicating decreased activity of 24-hydroxylase. Levels of 1,25(OH)2D3, on the contrary, were high-normal or elevated - 57 pg/mL [46; 79], which, in accordance with 25(OH)D3/1,25(OH)2D3 ratio (219 [134; 266]) suggests an increase in 1α-hydroxylase activity. Median level of 3-epi-25(OH)D3 was 0.7 ng/mL [0.4; 1.0] and D3 metabolite was detectable only in 6 patients. Median DBP level was 432 mg/L [382; 498], median free 25(OH)D was 5.6 pg/mL [3.3; 6.7], median calculated free 25(OH)D was 2.0 pg/mL [1.4; 3.3]. Most patients had albumin-adjusted serum calcium level in the lower half of reference range (median 2.24 mmol/L [2.14; 2.34]). Seven patients had secondary hyperparathyroidism and one patient had primary hyperparathyroidism, the rest of the patients had PTH levels within the normal range.25(OH)D3 levels showed significant negative correlation with percent of lung involvement (r = -0.36, p&lt;0.05) and positive correlation with SpO2 (r = 0.4, p&lt;0.05). 1,25(OH)2D3 levels correlated positively with 25(OH)D3 levels (r = 0.38, p&lt;0.05) and did not correlate significantly with PTH levels (p&gt;0.05). Conclusion: Our data suggests that hospitalized patients with COVID-19 infection have significant impairment of vitamin D metabolism, in particular, an increase in 1α-hydroxylase activity, which cannot be fully explained by pre-existing conditions such as vitamin D deficiency and secondary hyperparathyroidism. The observed profound vitamin D deficiency and association of vitamin D levels with markers of disease severity indicate the importance of vitamin D supplementation in these patients.

scholarly journals Vitamin D Levels among Hospitalized and Non-Hospitalized COVID-19 Patients in Dr. M. Djamil General Hospital Padang

2021 ◽  
Vol 3 (6) ◽  
pp. 78-81
Author(s):  
Harika Putra ◽  
Efrida ◽  
Rismawati Yaswir
Keyword(s):  
Vitamin D ◽  
Immune System ◽  
Vitamin D Deficiency ◽  
Serum Vitamin ◽  
Study Groups ◽  
P Value ◽  
Chi Square ◽  
Serum Vitamin D ◽  
Vitamin D Levels ◽  
Chemiluminescent Microparticle Immunoassay

Coronavirus Disease 2019 (COVID-19) causes immune system dysregulation and an exaggerated systemic inflammatory response. Vitamin D acts as an immunomodulator that enhances the immunity defense. Low levels of vitamin D affect the severity of COVID-19 infection. This study aims to determine vitamin D levels in hospitalized and non-hospitalized COVID-19 patients. A case-control study was conducted involving 62 COVID-19 patients, equally divided into hospitalized and non-hospitalized groups at RSUP dr. M. Djamil, Padang from February to September 2020. Serum vitamin D levels were measured using the Chemiluminescent Microparticle Immunoassay. Vitamin D deficiency was defined as a level less than 20 ng/mL. The hospitalized group consisted of moderate to critical COVID-19 patients, whereas the non-hospitalized group consisted of the asymptomatic and mild COVID-19 patients according to the Indonesian Ministry of Health Guidelines. All data were analyzed using a T-test and Chi-square with a significant p-value of 0.05. The results showed that most subjects were women between 21–60 years. The mean level of vitamin D (ng/mL) in the hospitalized group was lower than in the non-hospitalized group (15.5 ± 7.72 vs. 19.2 ± 14.30; 95% CI -9.509–2.167; p=0.213). Vitamin D deficiency affected hospitalized group more than the non-hospitalized group, but not statistically significant (71% vs. 64.5%, p=0.566). It indicated the role of vitamin D in preventing immune system hyperactivation causing COVID-19 cytokine storm. This study concluded no difference in vitamin D levels among the study groups. Nevertheless, further research on vitamin D is needed to determine its role and benefits against COVID-19 infection.

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