scholarly journals Positive Association of Vitamin D Receptor Gene Variations with Multiple Sclerosis in South East Iranian Population

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Mehrnaz Narooie-Nejad ◽  
Maryam Moossavi ◽  
Adam Torkamanzehi ◽  
Ali Moghtaderi
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Positive Association ◽  
Disease Status ◽  
Genetic Variations ◽  
The Body ◽  
Vdr Gene ◽  
Vdr Gene Polymorphisms ◽  
East Of Iran

Among the factors postulated to play a role in MS susceptibility, the role of vitamin D is outstanding. Since the function of vitamin D receptor (VDR) represents the effect of vitamin D on the body and genetic variations in VDR gene may affect its function, we aim to highlight the association of two VDR gene polymorphisms with MS susceptibility. In current study, we recruited 113 MS patients and 122 healthy controls. TaqI (rs731236) and ApaI (rs7975232) genetic variations in these two groups were evaluated using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. All genotype and allele frequencies in both variations showed association with the disease status. However, to find the definite connection between genetic variations in VDR gene and MS disease in a population of South East of Iran, more researches on gene structure and its function with regard to patients’ conditions are required.

scholarly journals Allelic variations in coding regions of the vitamin D receptor gene in dairy cows and potential susceptibility to periparturient hypocalcaemia

2012 ◽  
Vol 79 (4) ◽  
pp. 423-428 ◽  
Author(s):  
Carolin Deiner ◽  
Maria Reiche ◽  
Dirk Lassner ◽  
Desirée Grienitz ◽  
Sven Twardziok ◽  
...  
Keyword(s):  
Vitamin D ◽  
Dairy Cows ◽  
Vitamin D Receptor ◽  
Bos Taurus ◽  
Post Partum ◽  
Receptor Gene ◽  
Vdr Gene ◽  
Coding Regions ◽  
Vdr Gene Polymorphisms ◽  
Clinical Records

Periparturient hypocalcaemia (milk fever) is a disorder of Ca metabolism in dairy cattle primarily affecting multiparous cows. The major reasons for the rapid decrease of blood Ca concentration after calving are the prompt increase of Ca secretion into the colostrum and the delayed activation of Ca regulation mechanisms including calcitriol, a metabolite of vitamin D. In man, vitamin D receptor (VDR) gene polymorphisms are reported to be associated with disturbances of Ca metabolism, whereas data confirming the same in dairy cows are still missing. Moreover, polymorphisms that only affect non-coding regions are sometimes difficult to ascribe to a specific disorder as pathways and unequivocal links remain elusive. Therefore, the idea of the present study was to investigate in a small group of dairy cows with documented clinical records whether polymorphisms in the coding regions of the VDR gene existed and whether these potentially found variations were correlated with the incidence of periparturient hypocalcaemia. For this purpose, blood DNA was isolated from 26 dairy cows in their 4th to 6th lactation, out of which 17 had experienced hypocalcaemia at least once, whereas 9 cows had never undergone periparturient hypocalcaemia in their lifetime. The 10 VDR exons and small parts of adjacent introns were sequenced and compared with the Bos taurus VDR sequence published on NCBI based on the DNA of one Hereford cow. In total, 8 sequence alterations were detected in the fragments, which were primarily heterozygous. However, only 4 of them were really located on exons thereby potentially causing changes of the encoded amino acid of the VDR protein, but were not correlated with the incidence of periparturient hypocalcaemia. Certainly, this lack of statistical correlation could be due to the small number of animals included; anyhow, it was not encouraging enough to initiate a larger study with hundreds of cows and document blood Ca levels post partum for at least four lactations.

Vitamin D Receptor Gene Polymorphisms in Childhood Brucellosis in Turkish Children

2021 ◽  
Author(s):  
Ayse Kaman ◽  
Fatma Nur Öz ◽  
Gülseren Sahin ◽  
Özge Metin Akcan
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Receptor Gene ◽  
Vitamin D Receptor Gene ◽  
Genotype Distribution ◽  
Healthy Controls ◽  
Vdr Gene ◽  
Taqi Polymorphism ◽  
Vdr Gene Polymorphisms

Abstract Objective The vitamin D receptor gene (VDR) polymorphisms and the risk of various infections have been studied. An association with brucellosis and vitamin D levels has been investigated but not yet with VDR gene polymorphisms. We aimed to examine the association between VDR gene polymorphisms and susceptibility to childhood brucellosis. Methods This case–control study included patients with brucellosis and healthy controls. After extracting genomic DNA using a Qiagen blood DNA isolation kit, five VDR single nucleotide polymorphisms (SNPs), including Cdx-2, FokI, BsmI, ApaI, and TaqI gene, were amplified. Genetic distribution of these SNPs of VDR gene in patient and control groups were compared. Results A total of 38 patients with brucellosis and 89 healthy controls were evaluated. The genotype distribution of Cdx2, FokI, BsmI, and ApaI polymorphisms were similar between patients and healthy controls. However, the CC homozygous genotype for VDR gene TaqI was significantly overexpressed in patients compared with controls (23.7 vs. 7.9%; p = 0.042). The frequency of the C allele of the TaqI genotype was significantly different between patients and controls (p = 0.018). On the other hand, presence of the A allele in the BsmI was associated considerably with an increased risk of brucellosis (p = 0.037). VDR polymorphism distribution was similar according to age, presence of complicated disease, and presence of bacteremia. The heterozygote TaqI polymorphism was more common in patients presented as subacute and chronic symptoms (p = 0.036). Conclusion Our results indicated the possible role in TaqI polymorphism of the VDR gene for the risk of brucellosis at the time of exposure to infection.

scholarly journals Polymorphisms at the Ligand Binding Site of the Vitamin D Receptor Gene and Osteomalacia

2005 ◽  
Vol 21 (4) ◽  
pp. 191-197 ◽  
Author(s):  
Duygu Gezen Ak ◽  
Hakkí Kahraman ◽  
Erdinç Dursun ◽  
Belgin Süsleyici Duman ◽  
Nevin Erensoy ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Receptor Gene ◽  
Vitamin D Receptor Gene ◽  
Mineral Density ◽  
Vdr Gene ◽  
Vdr Gene Polymorphisms ◽  
Significant Difference ◽  
Calcium Phosphorus

Vitamin D receptor (VDR) gene polymorphisms have been suggested as possible determinants of bone mineral density (BMD) and calcium metabolism. In this study, our aim was to determine whether there is an association between VDR gene polymorphism and osteomalacia or not. We determined ApaI and TaqI polymorphisms in the vitamin D receptor gene in 24 patients with osteomalacia and 25 age-matched healthy controls. Serum calcium, phosphorus, ALP, PTH, 25OHD levels were also examined. We used PCR and RFLP methods to test for an association between osteomalacia and polymorphisms within, intron 8 and exon 9 of the VDR gene. When the control and patients were compared for their ApaI and TaqI genotypes there was no relationship between VDR gene allelic polymorphisms and osteomalacia. Whereas a nearly significant difference for A allele was found in the allellic distribution of the patients (p= 0.08). Also no association between biochemical data and VDR gene polymorphisms was observed.

scholarly journals Vitamin D Receptor Polymorphisms in Sex-Frailty Paradox

Nutrients ◽  
2020 ◽  
Vol 12 (9) ◽  
pp. 2714
Author(s):  
Beatrice Arosio ◽  
Franca Rosa Guerini ◽  
Andrea Saul Costa ◽  
Alessandra Dicitore ◽  
Evelyn Ferri ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Frailty Index ◽  
Positive Association ◽  
Inorganic Phosphorus ◽  
Vdr Gene ◽  
Significant Positive Association ◽  
Genetic Profiling ◽  
Vdr Gene Polymorphisms ◽  
Apai Polymorphism

The “male-female health-survival paradox” evidences that the survival advantage observed in women is linked to higher rates of disability and poor health status compared to men, a phenomenon also called the “sex-frailty paradox”. The depletion of vitamin D seems to play a role in the fragilization of old persons, and genetic polymorphisms of the vitamin D receptor (VDR) gene seem to be involved in regulating the vitamin D pathway. This study correlated the VDR gene polymorphisms (FokI, ApaI, BsmiI, and TaqI) with frailty, computed by frailty index (FI), in 202 persons (127 women and 75 men, aged from 60 to 116 years), aiming to capture the involvement of vitamin D in the sex-frailty paradox. The results showed slightly higher FI (p = 0.05), lower levels of 25(OH)D (p = 0.04), and higher levels of parathyroid hormone PTH (p = 0.002) and phosphorus (p < 0.001) in women than in men. Interestingly, the ApaI minor allele (Aa + aa) showed a significant positive association with FI (p = 0.03) and a negative association with inorganic phosphorus values (p = 0.04) compared to AA genotype only in women, regardless of age. The exact mechanism and the causal role that, in old women, links ApaI polymorphism with frailty are still unclear. However, we could speculate that a specific genetic profiling, other than 25(OH)D levels, play a role in the sex-frailty paradox.

scholarly journals Vitamin D receptor gene variants contribute to hip and knee osteoarthritis susceptibility

2021 ◽  
pp. 19-19
Author(s):  
Vladimir Vranic ◽  
Katarina Zeljic ◽  
Debora Stefik ◽  
Nemanja Ivkovic ◽  
Dzihan Abazovic ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Persistent Pain ◽  
Vdr Gene ◽  
Knee Oa ◽  
Specific Analysis ◽  
Vdr Gene Polymorphisms ◽  
Joint Disorder ◽  
History Of

Vitamin D receptor (VDR) gene polymorphisms could play a significant role in the susceptibility and pathogenesis of osteoarthritis (OA), the most common degenerative joint disorder in humans. The current study involved 94 OA patients and 100 healthy, asymptomatic controls. VDR variants FokI (rs2228570), TaqI (rs731236), ApaI (rs7975232) and EcoRV (rs4516035) were genotyped using TaqMan-based real-time PCR. Adjusted odds ratio (OR) analysis showed that VDR TaqI and FokI polymorphisms are significantly associated with susceptibility to OA (OR=1.986, P=0.001 and OR=1.561, P=0.017, respectively). Joint-specific analysis showed that the VDR TaqI polymorphism was associated with risk of hip OA (OR=1.930, P=0.005) and knee OA (OR=1.916, P=0.028), while the VDR FokI polymorphism was associated with higher risk of knee OA (OR=2.117, P=0.012). VDR TaqI and FokI polymorphisms are associated with the occurrence of persistent pain (P=0.005 and P=0.027, respectively), while ApaI was associated with a family history of OA (p=0.004). The VDR FokI and TaqI genetic variants significantly contribute to osteoarthritis susceptibility, the occurrence of persistent pain, and potentially to joint-specific OA risk.

scholarly journals Association of select vitamin D receptor gene polymorphisms with the risk of tobacco-related cancers – a meta-analysis

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Lukasz Laczmanski ◽  
Izabela Laczmanska ◽  
Felicja Lwow
Keyword(s):  
Risk Factors ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Meta Analysis ◽  
Receptor Gene ◽  
P Value ◽  
Vdr Gene ◽  
Taqi Polymorphism ◽  
Vdr Gene Polymorphisms

Abstract The observed increase in morbidity and mortality due to tobacco-related cancers, especially those in the respiratory system and esophagus, is becoming a public health challenge. Smoking cigarettes is one of the main risk factors predisposing individuals to many types of cancers. The aim of this study was to determine the role of select vitamin D receptor (VDR) gene polymorphisms as risk factors in tobacco-related cancers. The MEDLINE and ResearchGate databases were used to search for articles up to June 2017, and 12 articles including 26 studies concerning FokI, ApaI, TaqI and BsmI polymorphisms and lung, neck, head, esophageal and oral cancers were chosen. In total, 5 113 cases and 5 657 controls were included in the pooled analysis. We found a significant relationship between tobacco-related cancers and the occurrence of the “t” allele in the TaqI polymorphism of VDR. The occurrence of the “t” allele reduced the risk of tobacco-related cancers by 17% (OR = 0.83, 0.72–0.96 95% CI, p-value = 0.0114). Our analysis revealed that there is a correlation between the TaqI polymorphism of VDR and the risk of tobacco-related cancers.

scholarly journals Vitamin D receptor gene polymorphisms and idiopathic Parkinson disease: an Egyptian study

2021 ◽  
Vol 57 (1) ◽  
Author(s):  
Ebtesam Mohamed Fahmy ◽  
Mohamed Elsayed Elawady ◽  
Sahar Sharaf ◽  
Sarah Heneidy ◽  
Rania Shehata Ismail
Keyword(s):  
Vitamin D ◽  
Parkinson Disease ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Receptor Gene ◽  
Vitamin D Receptor Gene ◽  
Vdr Gene ◽  
Younger Age ◽  
Vdr Gene Polymorphisms ◽  
Receptor Gene Polymorphisms

Abstract Background Accumulating data have suggested that vitamin D receptor (VDR) gene is a pretender gene for vulnerability to Parkinson disease (PD). This study aimed to assess the relationship of VDR gene polymorphisms (FokI and ApaI) with PD. Fifty patients suffering from PD and 50 age- and sex-matched healthy controls were included. Unified Parkinson Disease Rating Scale (UPDRS) was done to assess disease severity. Genetic testing for VDR gene single nucleotide polymorphisms (FokI and ApaI) was done using real time polymerase chain reaction (PCR) technique. Results Concerning frequency of genes and alleles for vitamin D receptor gene polymorphisms (FokI and ApaI), no statistically significant difference was found between PD patients and controls. AC genotype was associated with younger age and younger age at onset of disease compared to CC and AA genotypes of ApaI gene polymorphisms. CC genotype was significantly positively correlated with fatigue and urine incontinence. VDR gene polymorphisms were not found to be independent predictors for severity of PD after adjustment for possible confounders. Conclusion VDR gene polymorphisms are related to the clinical manifestations rather than etiology or severity of idiopathic PD.

scholarly journals Polymorphisms of the Vitamin D Receptor Gene in Crohn Disease

2021 ◽  
Author(s):  
Bhettina Vieira Lopes ◽  
Vitor Linhares Ribeiro ◽  
Larissa de Oliveira Rosa Marques ◽  
Liliane Emilly dos Santos Sousa ◽  
Jacqueline Andréia Bernardes Leão-Cordeiro ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Crohn Disease ◽  
Gene Polymorphisms ◽  
Meta Analysis ◽  
Receptor Gene ◽  
Vdr Gene ◽  
Control Subjects ◽  
Inflammatory Conditions ◽  
Vdr Gene Polymorphisms

Abstract Introduction Crohn disease (CD) and ulcerative colitis (UC) are chronic inflammatory conditions of the gastrointestinal tract. Studies have shown that polymorphisms of the vitamin D receptor (VDR) gene may help elucidate the pathogenesis of CD. Objectives To analyze the role of VDR gene polymorphisms (ApaI, BsmI, FokI, and TaqI) in the development of CD. Methods The present study is a systematic review with meta-analysis. a total of 50 articles in English and Portuguese published from 2000 to 2020 were selected from 3 databases. The relationship between CD and the VDR gene was addressed in 16 articles. Results The TaqI polymorphism was analyzed in 3,689 patients and 4,645 control subjects (odds ratio [OR] = 0.948; 95% confidence interval [95%CI] = 0.851–1.056; p = 0.3467). The ApaI polymorphism was studied in 3,406 patients and 4,415 control subjects (OR = 1,033; 95%CI = 0.854–1.250; p = 0.7356). For FokI polymorphism, there were 2,998 patients and 4,146 control subjects (OR = 0.965; 95%CI = 0.734–1.267; p = 0.7958). Lastly, the BsmI polymorphism was analyzed in 2,981 patients and 4,477 control subjects (OR = 1,272; 95%CI = 0.748–2.161; p = 0.3743). Conclusion These four VDR gene polymorphisms were not associated with CD. Therefore, further studies with larger samples are required to corroborate or rectify the conclusions from the present meta-analysis.

scholarly journals Association of Vitamin D Receptor gene polymorphisms with the occurrence of low bone density, osteopenia, and osteoporosis in patients with type 2 diabetes

2020 ◽  
Author(s):  
Maryam Ghodsi ◽  
Abbas Ali Keshtkar ◽  
Farideh Razi ◽  
Mahsa Mohammad Amoli ◽  
Ensieh Nasli-Esfahani ◽  
...  
Keyword(s):  
Vitamin D ◽  
Bone Density ◽  
Vitamin D Deficiency ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Receptor Gene ◽  
Vdr Gene ◽  
Low Bone Density ◽  
Vdr Gene Polymorphisms

Abstract Background Diabetes, osteoporosis, and Vitamin D deficiency are interrelated. The association of the Vitamin D receptor (VDR) gene with bone density is not established in different populations. This study analyze the association between five VDR gene polymorphisms (Fok1 (rs2228570), Taq1 (rs731236), Bsm1 (rs1544410), Apa1 (rs7975232), and EcoRV (rs4516035)) and the occurrence of low bone density (LBD)/osteopenia/osteoporosis in Iranian type 2 diabetics (T2D).Methods This study contained 165 patients with T2D. Separated for gender and polymorphism, crude and adjusted (for age and BMI), logistic regression analysis provided odds ratios (ORs). The most common haplotype was used as the reference for each type of VDR gene polymorphism.Results The occurrence of T2D was 13.03% (165/1266) for the people dwelling in the city of Sanandaj in 2012, until 2013. 13.92% and 81.29% of participants with T2D had osteoporosis and vitamin D deficiency, respectively. In women, tt genotype significantly decreased the risk of LBD/osteopenia/osteoporosis versus Tt genotype, after adjusting for BMI and age (OR=0.18, CI: 0.03-0.97). Conversely, the EE genotype increased the risk of LBD/osteopenia/osteoporosis versus Ee genotype (OR=7.64, CI: 2.03-28.72).Conclusions Among the patients with T2D, Vitamin D deficiency and osteoporosis were prevalent, and some genetic variations in VDR were significantly associated with osteoporosis. In women, a weak protective role in LBD/osteopenia/osteoporosis was found for tt variant of TaqI polymorphism. More importantly, EE variant of EcoRV polymorphism had a strong significant association with increasing the risk of LBD/osteopenia/osteoporosis. Further ethnicity-based cohort studies based on a large study group of T2D patients are recommended.

Vitamin D receptor gene polymorphisms and osteoarthritis: a meta-analysis

Rheumatology ◽  
2020 ◽  
Author(s):  
Hui-Min Li ◽  
Yi Liu ◽  
Ren-Jie Zhang ◽  
Jing-Yu Ding ◽  
Cai-Liang Shen
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Meta Analysis ◽  
Receptor Gene ◽  
Recessive Model ◽  
Vdr Gene ◽  
Vdr Gene Polymorphisms ◽  
Apai Polymorphism ◽  
Meta Analyses

Abstract Objective To investigate the association of vitamin D receptor (VDR) gene polymorphisms with OA susceptibility. Methods Meta-analyses were performed using allelic contrast, contrast of homozygotes, and recessive and dominant models to clarify the association between OA and VDR ApaI, BsmI, TaqI and FokI polymorphisms. Odds ratio (OR) and the corresponding 95% CI were obtained, and subgroup analyses were performed based on the ethnicity and OA sites. Results A total of 18 studies with 2983 OA patients and 4177 controls were included in this meta-analysis. There were statistically significant associations in the spine between OA susceptibility and the VDR BsmI (B vs b: OR = 1.25, 95% CI: 1.03, 1.53, P = 0.026; BB vs bb: OR = 1.56, 95% CI: 1.02, 2.37, P = 0.038) and TaqI (T vs t: OR = 0.73, 95% CI: 0.54, 0.99, P = 0.044; TT vs Tt + tt: OR = 0.63, 95% CI: 0.42, 0.95, P = 0.028) polymorphisms, but not for the other polymorphisms. A statistically significant association was found between the VDR FokI polymorphism and OA susceptibility in the knee in the recessive model contrast (FF vs Ff + ff: OR = 0.63, 95% CI: 0.42, 0.95, P = 0.028), but this result was only pooled from one study. However, no significant associations were found between the VDR ApaI polymorphism and OA. Besides, ethnic stratification also indicated that there was no significant association between VDR gene polymorphism and OA in Caucasians or Asians. Conclusion Our meta-analysis suggests that the VDR BsmI and TaqI polymorphisms are associated with OA susceptibility in the spine. However, the VDR ApaI polymorphism is not a significant genetic risk factor for OA.

Sign in / Sign up

Export Citation Format

Share Document