scholarly journals Vitamin D receptor gene polymorphisms and the effectiveness of assisted reproductive technology

2021 ◽  
pp. 360-364
Author(s):  
A. Yu. Romanov ◽  
A. G. Syrkasheva ◽  
A. E. Donnikov ◽  
N. V. Dolgushina
Keyword(s):  
Vitamin D ◽  
Pregnancy Rate ◽  
Assisted Reproduction ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Active Form ◽  
Human Reproduction ◽  
Perivitelline Space ◽  
Vdr Gene ◽  
Vdr Gene Polymorphisms

Introduction. Vitamin D administration is recommended for women with vitamin D insufficiency, who are planning to undergo assisted reproductive treatment (ART). The action of the active form of vitamin D is mediated through its vitamin D receptor (VDR). The presence of VDR in the cells and tissues of the female reproductive system suggests that vitamin D plays an important role in human reproduction. However, the effect of VDR gene polymorphisms on human reproduction has not been adequately studied.Aim. To assess the effect of VDR gene polymorphisms on the folliculogenesis, embryogenesis and clinical outcomes of assisted reproduction programs.Materials and methods. The cross-sectional study included 300 patients without complications during the assisted reproduction cycle. The number of follicles, oocyte-cumulus complexes, mature and immature oocytes, the presence of oocyte dysmorphisms, number of zygotes, fertilization rate, and the number of obtained blastocysts were evaluated. The determination of three polymorphisms of the VDR gene (FokI – rs2228570, BsmI – rs1544410, TaqI – rs731236) was performed by real-time polymerase chain reaction.Results. The incidence of perivitelline space pathology of oocytes in FokI A/A genotype patients was 5.7%, in A/G genotype patients  – 14.7%, in  G/G genotype patients  – 16.3% (p  =  0.041  when comparing A/A  genotype with A/G + G/G genotypes). Depending on the genotype, the pregnancy rate ranged from 38.5 to 52.8%, but no statistically significant differences were found.Conclusion. It was shown that the perivitelline space pathology of oocytes in the FokI A/G genotype patients is 2.6 times higher, and in the G/G genotype patients – 2.9 times higher than in the A/A genotype patients. However, there were no differences in pregnancy rate among patients with different genotypes of FokI, BsmI and TaqI gene polymorphisms of VDR. 

scholarly journals Single nucleotide vitamin D receptor polymorphisms (FokI, BsmI, ApaI, and TaqI) in the pathogenesis of prematurity complications

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Katarzyna Kosik ◽  
Dawid Szpecht ◽  
Salwan R. Al-Saad ◽  
Lukasz M. Karbowski ◽  
Grażyna Kurzawińska ◽  
...  
Keyword(s):  
Vitamin D ◽  
Preterm Infants ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Active Form ◽  
Vdr Gene ◽  
Vdr Polymorphism ◽  
Single Nucleotide ◽  
Vdr Gene Polymorphisms ◽  
Vdr Polymorphisms

AbstractThe vitamin D receptor (VDR), coded by the VDR gene, plays a pivotal role in executing cellular functions when bound by the active form of vitamin D. Gene polymorphisms in this receptor have been increasingly associated with a heightened state of vulnerability to certain diseases. However, limited data is available concerning the role of VDR gene polymorphisms in preterm infant complications. In 114 premature infants (< 32 weeks gestation) we analyze four single nucleotide VDR polymorphisms (rs2228570 (FokI), rs1544410 (BsmI), rs797532 (ApaI), rs731236 (TaqI)) for their association with respiratory distress syndrome (RDS), intraventricular hemorrhage (IVH), bronchopulmonary dysplasia (BPD), necrotizing enterocolitis (NEC) and retinopathy of prematurity (ROP). The results show that BPD was almost four times more likely in infants with the genotype CC of ApaI (rs7975232) (OR 3.845; p = 0.038). While both BPD and NEC were 2.1 times more likely to occur in preterm infants with the allele C of ApaI (rs7975232) (respectively: OR 2.111 and OR 2.129, p < 0.05). The ApaI VDR polymorphism appears to influence incidence of BPD and NEC in preterm infants. Considering VDR polymorphisms in future genetic investigations, in preterm complications, may prove clinically relevant.

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.

Vitamin D receptor (VDR) gene polymorphisms and susceptibility to systemic lupus erythematosus clinical manifestations

Lupus ◽  
2013 ◽  
Vol 22 (11) ◽  
pp. 1110-1117 ◽  
Author(s):  
J de Azevêdo Silva ◽  
K Monteiro Fernandes ◽  
JA Trés Pancotto ◽  
T Sotero Fragoso ◽  
EA Donadi ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Lupus Erythematosus ◽  
Gene Polymorphisms ◽  
Clinical Manifestations ◽  
Systemic Lupus ◽  
Vdr Gene ◽  
Vdr Gene Polymorphisms
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