scholarly journals rs7041 and rs4588 Polymorphisms in Vitamin D Binding Protein Gene (VDBP) and the Risk of Diseases

2022 ◽  
Vol 23 (2) ◽  
pp. 933
Author(s):  
Dominika Rozmus ◽  
Janusz Płomiński ◽  
Klaudia Augustyn ◽  
Anna Cieślińska
Keyword(s):  
Vitamin D ◽  
Binding Protein ◽  
Chronic Obstructive ◽  
Vitamin D Metabolites ◽  
Nucleotide Polymorphisms ◽  
Vitamin D Binding Protein ◽  
Obstructive Pulmonary Disease ◽  
Exon 11 ◽  
Domain Iii

The purpose of the study was to investigate the role of vitamin D binding protein (VDBP, DBP) and its polymorphism in the vitamin D pathway and human health. This narrative review shows the latest literature on the most popular diseases that have previously been linked to VDBP. Vitamin D plays a crucial role in human metabolism, controlling phosphorus and calcium homeostasis. Vitamin D binding protein bonds vitamin D and its metabolites and transports them to target tissues. The most common polymorphisms in the VDBP gene are rs4588 and rs7041, which are located in exon 11 in domain III of the VDBP gene. rs4588 and rs7041 may be correlated with differences not only in vitamin D status in serum but also with vitamin D metabolites. This review supports the role of single nucleotide polymorphisms (SNPs) in the VDBP gene and presents the latest data showing correlations between VDBP variants with important human diseases such as obesity, diabetes mellitus, tuberculosis, chronic obstructive pulmonary disease, and others. In this review, we aim to systematize the knowledge regarding the occurrence of diseases and their relationship with vitamin D deficiencies, which may be caused by polymorphisms in the VDBP gene. Further research is required on the possible influence of SNPs, modifications in the structure of the binding protein, and their influence on the organism. It is also important to mention that most studies do not have a specific time of year to measure accurate vitamin D metabolite levels, which can be misleading in conclusions due to the seasonal nature of vitamin D.

scholarly journals Association of Vitamin D Receptor and Vitamin D-Binding Protein Polymorphisms with Familial Breast Cancer Prognosis in a Mono-Institutional Cohort

Nutrients ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 1208
Author(s):  
Valentina Aristarco ◽  
Harriet Johansson ◽  
Sara Gandini ◽  
Debora Macis ◽  
Cristina Zanzottera ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Binding Protein ◽  
Cancer Prognosis ◽  
Consecutive Series ◽  
Nucleotide Polymorphisms ◽  
Vitamin D Binding Protein ◽  
Brca1 And Brca2

Low 25-hydroxyvitamin D (25OHD) has been associated with an increased cancer incidence and poorer prognosis. Single nucleotide polymorphisms (SNPs) of vitamin D receptor (VDR) and vitamin D binding protein (GC gene) may interfere with vitamin D activity. This study assesses the role of VDR and GC SNPs on breast cancer (BC) recurrence and survival in a cohort of patients with a family history of breast cancer, without the pathogenic variant for BRCA1 and BRCA2. A consecutive series of patients who underwent genetic testing were genotyped for VDR and GC genes. Specifically, ApaI, FokI, TaqI, BsmI and rs2282679, rs4588, rs7041 SNPs were determined. A total of 368 wild type (WT) patients with BC were analyzed for VDR and GC SNPs. The GC rs2282679 minor allele was significantly associated with luminal subtype of the primary tumor compared to Her2+/TN breast cancer (p = 0.007). Multivariate Cox models showed that BmsI and TaqI are significantly associated with BC outcome. Patients with the major alleles showed more than 30% lower hazard of relapse (BsmI p = 0.02 and TaqI p = 0.03). Our study supports the evidence for a pivotal role of 25OHD metabolism in BC. GC SNPs may influence the hormone tumor responsiveness and VDR may affect tumor prognosis.

scholarly journals Vitamin D binding protein genotype variants and risk of chronic obstructive pulmonary disease: A meta-analysis

Respirology ◽  
2014 ◽  
Vol 20 (2) ◽  
pp. 219-225 ◽  
Author(s):  
Nobuyuki Horita ◽  
Naoki Miyazawa ◽  
Koji Tomaru ◽  
Miyo Inoue ◽  
Yoshiaki Ishigatsubo ◽  
...  
Keyword(s):  
Chronic Obstructive Pulmonary Disease ◽  
Vitamin D ◽  
Pulmonary Disease ◽  
Binding Protein ◽  
Meta Analysis ◽  
Chronic Obstructive ◽  
Vitamin D Binding Protein ◽  
Obstructive Pulmonary Disease ◽  
Protein Genotype

scholarly journals Vitamin D receptor, vitamin D binding protein and CYP27B1 single nucleotide polymorphisms and susceptibility to viral infections in infants

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Maria Zacharioudaki ◽  
Ippokratis Messaritakis ◽  
Emmanouil Galanakis
Keyword(s):  
Vitamin D ◽  
Single Nucleotide Polymorphisms ◽  
Viral Infection ◽  
Vitamin D Receptor ◽  
Viral Infections ◽  
Binding Protein ◽  
Genotypic Differences ◽  
Nucleotide Polymorphisms ◽  
Vitamin D Binding Protein ◽  
Single Nucleotide

AbstractThe role of vitamin D in innate and adaptive immunity is recently under investigation. In this study we explored the potential association of genetic variances in vitamin D pathway and infections in infancy. Τhis prospective case–control study included infants 0–24 months with infection and age-matched controls. The single nucleotide polymorphisms of vitamin D receptor (VDR) gene (BsmI, FokI, ApaI, TaqI), vitamin D binding protein (VDBP) (Gc gene, rs7041, rs4588) and CYP27B1 (rs10877012) were genotyped by polymerase chain reaction-restriction fragment length polymorphism. In total 132 infants were enrolled, of whom 40 with bacterial and 52 with viral infection, and 40 healthy controls. As compared to controls, ΤaqI was more frequent in infants with viral infection compared to controls (p = 0.03, OR 1.96, 95% CI 1.1–3.58). Moreover, Gc1F was more frequent in the control group compared to infants with viral infection (p = 0.007, OR 2.7, 95% CI 1.3–5.6). No significant differences were found regarding the genetic profile for VDR and VDBP in infants with bacterial infection compared to the controls and also regarding CYP27B1 (rs10877012) between the studied groups. Genotypic differences suggest that vitamin D pathway might be associated with the host immune response against viral infections in infancy.

Vitamin D-binding protein: multifunctional component of blood serum

2021 ◽  
Vol 76 (1) ◽  
pp. 103-110
Author(s):  
Alexandra A. Povaliaeva ◽  
Ekaterina A. Pigarova ◽  
Anastasia A. Romanova ◽  
Larisa K. Dzeranova ◽  
Artem Y. Zhukov ◽  
...  
Keyword(s):  
Vitamin D ◽  
Binding Sites ◽  
Binding Protein ◽  
Vitamin D Metabolites ◽  
Biological Functions ◽  
Vitamin D Binding Protein ◽  
Fatty Acid Binding ◽  
Physiological Properties ◽  
Steroid Binding ◽  
Tumor Pathogenesis

Vitamin D-binding protein (DBP) was discovered more than half a century ago as a polymorphic serum protein and is currently characterized by a variety of physiological properties. First of all, DBP carries the bulk of vitamin D metabolites circulating in the bloodstream, while albumin is the second most important transport protein, especially in patients with a low concentration of DBP in serum. Since it was discovered that only 12% of the total circulating DBP have occupied steroid binding sites, a vigorous study of other potential biological roles of DBP was initiated: actin utilization, regulation of inflammation and innate immunity mechanisms, fatty acid binding, effects on bone metabolism and participation in the tumor pathogenesis. This review focuses on the main known biological functions of DBP.

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