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 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.

scholarly journals Independent associations of polymorphisms in vitamin D binding protein (GC) and vitamin D receptor (VDR) genes with obesity and plasma 25OHD3 levels demonstrate sex dimorphism

2016 ◽  
Vol 41 (4) ◽  
pp. 345-353 ◽  
Author(s):  
Norah Almesri ◽  
Nagalla S. Das ◽  
Muhallab E. Ali ◽  
Khalid Gumaa ◽  
Hayder Ahmed Giha
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Plasma Levels ◽  
Binding Protein ◽  
Nucleotide Polymorphisms ◽  
Sex Dimorphism ◽  
Vitamin D Binding Protein ◽  
Vdr Gene ◽  
Gc Gene ◽  
High Bmi

We investigated a possible association between polymorphisms in vitamin D binding protein (GC) and vitamin D receptor (VDR) genes and obesity in Bahraini adults. For this purpose, 406 subjects with varying body mass indexes (BMIs) were selected. Plasma levels of 25-hydroxyvitamin D3 (25OHD3) were measured by chemiluminescence immunoassay. Six single nucleotide polymorphisms, 2 in the VDR gene (rs731236 TC and rs12721377 AG) and 4 in the GC gene (rs2282679 AC, rs4588 CA, rs7041 GT, and rs2298849 TC), were genotyped by real-time polymerase chain reaction. We found that the rs7041 minor allele (G) and rare genotype (GG) were associated with higher BMI (p = 0.007 and p = 0.012, respectively), but they did not influence 25OHD3 levels. However, the minor alleles of rs2282679 (A) and rs4588 (C) were associated with low 25OHD3 plasma levels (p = 0.039 and p = 0.021, respectively), but not with BMI. Having categorized the subjects based on their sex, we found that (i) rs7041 GG associated with high BMI in females (p = 0.003), (ii) rs4588 CC associated with high BMI in females (p = 0.034) and low 25OHD3 levels in males (p = 0.009), and (iii) rs12721377 AA associated with low 25OHD3 levels in females (p = 0.039). Notably, none of the common haplotypes (6 in the GC gene and 3 in the VDR gene) were associated with BMI. Therefore, polymorphisms in the GC (rs2282679, rs4588, rs7041) and VDR (rs12721377) genes were independently associated with obesity and 25OHD3 levels with a clear sex dimorphism.

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 Associations between Vitamin D and Type 2 Diabetes Mellitus: The Role of Vitamin D Receptor and Binding Protein

2020 ◽  
Vol 10 (04) ◽  
pp. 222-235
Author(s):  
Eman S. Arafat ◽  
Inass M. Taha ◽  
Shahad W. Kattan ◽  
Nouf Abubakr Babteen ◽  
Iman Fawzy
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Vitamin D ◽  
Type 2 Diabetes Mellitus ◽  
Vitamin D Receptor ◽  
Binding Protein

scholarly journals Vitamin D Receptor (VDR) and Group-Specific Component (GC, Vitamin D–Binding Protein) Polymorphisms in Myopia

2011 ◽  
Vol 52 (6) ◽  
pp. 3818 ◽  
Author(s):  
Donald O. Mutti ◽  
Margaret E. Cooper ◽  
Ecaterina Dragan ◽  
Lisa A. Jones-Jordan ◽  
Melissa D. Bailey ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Binding Protein ◽  
Vitamin D Binding Protein ◽  
Specific Component ◽  
Group Specific Component ◽  
Protein Polymorphisms

scholarly journals Role of vitamin D-binding protein in isocyanate-induced occupational asthma

2012 ◽  
Vol 44 (5) ◽  
pp. 319 ◽  
Author(s):  
Sung-Ho Kim ◽  
Gil-Soon Choi ◽  
Young-Hee Nam ◽  
Joo-Hee Kim ◽  
Gyu-Young Hur ◽  
...  
Keyword(s):  
Vitamin D ◽  
Occupational Asthma ◽  
Binding Protein ◽  
Vitamin D Binding Protein

Serum levels of vitamin D, vitamin D-binding protein and vitamin D receptor in migraine patients from central Anatolia region

2014 ◽  
Vol 68 (10) ◽  
pp. 1272-1277 ◽  
Author(s):  
A. Celikbilek ◽  
A. Y. Gocmen ◽  
G. Zararsiz ◽  
N. Tanik ◽  
H. Ak ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Binding Protein ◽  
Serum Levels ◽  
Central Anatolia ◽  
Vitamin D Binding Protein

scholarly journals Single Nucleotide Polymorphisms in the Gc Gene for Vitamin D Binding Protein in Common Cancers in Thailand

2015 ◽  
Vol 16 (8) ◽  
pp. 3339-3344 ◽  
Author(s):  
Wanwisa Maneechay ◽  
Teeranut Boonpipattanapong ◽  
Samornmas Kanngurn ◽  
Puttisak Puttawibul ◽  
Sarayut Lucien Geater ◽  
...  
Keyword(s):  
Vitamin D ◽  
Single Nucleotide Polymorphisms ◽  
Binding Protein ◽  
Nucleotide Polymorphisms ◽  
Vitamin D Binding Protein ◽  
Single Nucleotide ◽  
Gc Gene

scholarly journals Association of the polymorphism of the vitamin D receptor gene (VDR) with the risk of leprosy in the Brazilian Amazon

2021 ◽  
Author(s):  
Jasna Letícia Pinto Paz ◽  
Maria do Perpétuo Socorro Corrêa Amador Silvestre ◽  
Letícia Siqueira Moura ◽  
Ismari Perini Furlaneto ◽  
Yan Corrêa Rodrigues ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Genetic Factors ◽  
Receptor Gene ◽  
Mycobacterium Leprae ◽  
Nucleotide Polymorphisms ◽  
Vdr Gene ◽  
Single Nucleotide ◽  
The Relationship

The transmission and evolution of leprosy depends on several aspects, including immunological and genetic factors of the host, as well as genetic factors of Mycobacterium leprae. This study evaluated the association of single nucleotide polymorphisms (SNPs) on the FokI (rs2228570), TaqI (rs731236), ApaI (rs7975232) regions of the vitamin D receptor (VDR) gene with leprosy. A total of 405 individuals were evaluated, composed by groups of 100 multibacillary and 57 paucibacillary patients, and 248 healthy contacts. Blood samples were collected from patients and contacts. The genotyping was performed by sequencing of the interest regions. The alleles of the studied SNPs, and of SNP FokI genotypes, were not associated with leprosy. For the SNP on TaqI region, the relationship between the tt genotype, and for the SNP ApaI, the AA genotype, revealed an association with susceptibility to MB form, while Aa genotype with protection. The extended genotypes AaTT and AaTt of ApaI and TaqI were associated with protection to against MB form. Futher studies analyzing the expression of the VDR gene and the correlation with its SNPs might help to clarify the role of polymorphisms on the immune response in leprosy.

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