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 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.

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.

scholarly journals Study of vitamin D receptor gene polymorphisms in a cohort of myocardial infarction patients with coronary artery disease

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Damir Raljević ◽  
Viktor Peršić ◽  
Elitza Markova-Car ◽  
Leon Cindrić ◽  
Rajko Miškulin ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Vitamin D ◽  
Coronary Artery ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Vdr Gene ◽  
Vdr Polymorphism ◽  
Vdr Gene Polymorphisms ◽  
Vdr Polymorphisms

Abstract Background Vitamin D deficiency is associated with cardiovascular diseases, including coronary artery diseases (CAD). As vitamin D manifests its biological function through its vitamin D receptor (VDR), VDR gene polymorphisms potentially affect VDR functionality and vitamin D activity. Therefore, the objective of this study was to analyze three well-studied VDR gene polymorphisms—Fok1 (rs2228570), BsmI (rs1544410) and Taq1 (rs731236)—in a cohort of CAD patients after acute myocardial infarction. Methods In the presented cross-sectional study, 155 participants with CAD after acute myocardial infarction and 104 participants in a control group without CAD were enrolled. The participants in both groups were Caucasians of European origin. The genotyping of VDR polymorphisms rs2228570, rs1544410 and rs731236 was assessed by RT-PCR. Results The results show an association between the T/T genotype of the BsmI (rs1544410) and the G/G genotype of the Taq1 (rs731236) VDR polymorphism and CAD patients after acute myocardial infarction. There was no association between the Fok1 (rs2228570) VDR polymorphism and CAD patients after acute myocardial infarction. Conclusion The presented results suggest a potential association of the BsmI (rs1544410) and Taq1 (rs731236) VDR polymorphisms with CAD patients after myocardial infarction.

scholarly journals The Vitamin D Receptor (VDR) Gene Polymorphisms in Turkish Brain Cancer Patients

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Bahar Toptaş ◽  
Ali Metin Kafadar ◽  
Canan Cacina ◽  
Saime Turan ◽  
Leman Melis Yurdum ◽  
...  
Keyword(s):  
Vitamin D ◽  
Cancer Patients ◽  
Vitamin D Receptor ◽  
Brain Cancer ◽  
Gene Polymorphisms ◽  
Vdr Gene ◽  
Increased Risk ◽  
Vdr Gene Polymorphisms ◽  
Significant Difference ◽  
Healthy Control

Objective. It has been stated that brain cancers are an increasingly serious issue in many parts of the world. The aim of our study was to determine a possible relationship between Vitamin D receptor (VDR) gene polymorphisms and the risk of glioma and meningioma.Methods. We investigated the VDR Taq-I and VDR Fok-I gene polymorphisms in 100 brain cancer patients (including 44 meningioma cases and 56 glioma cases) and 122 age-matched healthy control subjects. This study was performed by polymerase chain reaction-based restriction fragment length polymorphism (RF LP).Results. VDR Fok-I ff genotype was significantly increased in meningioma patients (15.9%) compared with controls (2.5%), and carriers of Fok-I ff genotype had a 6.47-fold increased risk for meningioma cases. There was no significant difference between patients and controls for VDR Taq-I genotypes and alleles.Conclusions. We suggest that VDR Fok-I genotypes might affect the development of meningioma.

scholarly journals Vitamin D receptor genetic polymorphisms were associated with oral lichen planus susceptibility in Chinese Han population

2019 ◽  
Author(s):  
Hong Shen ◽  
Qinglan Liu ◽  
Peng Huang ◽  
Haozhi Fan ◽  
Feng Zang ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Oral Lichen Planus ◽  
Recessive Model ◽  
Chinese Han ◽  
Vdr Gene ◽  
Han Population ◽  
Vdr Gene Polymorphisms ◽  
Oral Lichen

Abstract Vitamin D receptor (VDR) is involved in multiple immune-mediated disorders including Oral lichen planus (OLP). This study was aimed to investigate the association between VDR gene polymorphisms and the risk of OLP. 177 OLP patients and 207 healthy participants were recruited from Affiliated Hospital of Stomatology, Nanjing Medical University. Eight single nucleotide polymorphisms (SNPs: rs731236, rs739837, rs757343, rs2107301, rs2239185, rs7975232, rs11574129 and rs11568820) on the VDR gene were selected and genotyped. The results showed that the OLP risk was increased in subjects with the rs2239185 TT genotype (Recessive model: adjusted OR = 2.68, 95% CI = 1.28-5.62, P = 0.009) and rs7975232 CC genotype (Recessive model: adjusted OR = 2.25, 95% CI = 1.10-4.58, P = 0.026). And the significant cumulative effects on OLP risk were found in rs2239185 and rs7975232 (P < 0.01). The haplotype analysis showed that haplotype CC (rs2239185-rs7975232) was associated with increased OLP risk (OR =3.11, 95% CI = 1.42-6.83, P = 0.005), compared with haplotype AC. In conclusion, the variants of VDR rs2239185 and rs7975232 may influence the OLP susceptibility and VDR gene polymorphisms may be the candidate susceptibility region of OLP in Chinese Han population.

108: Association of vitamin D receptor (VDR) gene polymorphisms with idiopathic preterm birth (IPTB)

2008 ◽  
Vol 199 (6) ◽  
pp. S44
Author(s):  
Sorina Granovsky-Grisaru ◽  
Orly Elstein ◽  
Aron Tevet ◽  
Geona Altarescu ◽  
Michael S. Schimmel ◽  
...  
Keyword(s):  
Vitamin D ◽  
Preterm Birth ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Vdr Gene ◽  
Vdr Gene Polymorphisms

scholarly journals BsmI polymorphism in the vitamin D receptor gene is associated with 25-hydroxy vitamin D levels in individuals with cognitive decline

2018 ◽  
Vol 76 (11) ◽  
pp. 760-766 ◽  
Author(s):  
Ana Carolina R. de Oliveira ◽  
Carolina A. Magalhães ◽  
Cristina M. G. Loures ◽  
Vanessa G. Fraga ◽  
Leonardo C. de Souza ◽  
...  
Keyword(s):  
Vitamin D ◽  
Cognitive Decline ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Vdr Gene ◽  
Bsmi Polymorphism ◽  
Vitamin D Levels ◽  
Vdr Gene Polymorphisms ◽  
Significant Difference ◽  
25 Hydroxy Vitamin D

ABSTRACT Elderly people are at a high risk of developing vitamin D (VitD) deficiency due to both decreased intake and cutaneous synthesis. Most of the biological actions of VitD are mediated by the vitamin D receptor (VDR), which is present in neurons and glial cells of the hippocampus, and in the cortex and subcortical nuclei, essential areas for cognition. It is known that VDR gene polymorphisms may decrease the VDR affinity for VitD. Objective: The present study aimed to investigate the influence of VitD levels on cognitive decline in patients with dementia due to Alzheimer's disease (AD, n = 32) and mild cognitive impairment (MCI, n = 15) compared to cognitively healthy elderly (n = 24). We also evaluated the association of VDR gene polymorphisms with cognitive disturbance. Methods: Four polymorphisms on the VDR gene were studied, namely, BsmI, ApaI, FokI and TaqI, by polymerase chain reaction-restriction fragment length polymorphism. Serum levels of 25-hydroxy vitamin D (25(OH)D) were determined by high performance liquid chromatography. Results: No significant difference in 25(OH)D levels or genotypic/allelic frequencies was observed between the groups. Deficiency of 25(OH)D was more frequently observed in women. The AA/AG genotypes of the BsmI polymorphism was associated with sufficient 25(OH)D levels, while the GG genotype of this same polymorphism was associated to insufficient levels in the cognitively-impaired group (individuals with AD or MCI). Conclusions: The data obtained do not confirm the relationship between reductions of VitD levels, polymorphisms in the VDR gene, and altered cognitive function in this sample. However, the data indicate that BsmI polymorphism in the VDR gene is associated with the VitD levels in individuals with cognitive decline.

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