Associations of Vitamin D Binding Protein Gene Polymorphisms with the Development of Peripheral Arthritis and Uveitis in Ankylosing Spondylitis

2011 ◽  
Vol 38 (10) ◽  
pp. 2224-2229 ◽  
Author(s):  
KYONG-HEE JUNG ◽  
TAE-HWAN KIM ◽  
DONG-HYUK SHEEN ◽  
MI-KYOUNG LIM ◽  
SANG-KWANG LEE ◽  
...  
Keyword(s):  
Vitamin D ◽  
Ankylosing Spondylitis ◽  
Gene Polymorphisms ◽  
Binding Capacity ◽  
Binding Protein ◽  
Nucleotide Polymorphisms ◽  
Vitamin D Binding Protein ◽  
Peripheral Arthritis ◽  
Goldengate Assay ◽  
Increased Risk

Objective.Genetic factors account for more than 90% of overall susceptibility to ankylosing spondylitis (AS), and recent studies have focused on non-major histocompatibility complex genes. Vitamin D binding protein (DBP) is a highly polymorphic protein that transports vitamin D and its metabolites. In addition to its sterol binding capacity, DBP has many other roles in the inflammatory and immune systems, and has been reported to be associated with autoimmune diseases. We investigated the association between DBP polymorphisms and susceptibility to AS.Methods.This case-control study was conducted in 223 patients with AS and 239 ethnically matched controls who were genotyped for 8 single-nucleotide polymorphisms (SNP) in the DBP and its promoter. Genomic DNA was isolated from peripheral blood leukocytes using the standard phenolchloroform method, and the GoldenGate assay was used for genotyping.Results.No significant association was found between the susceptibility to AS and DBP polymorphisms. In a subgroup analysis of patients with AS, G alleles at rs222016 and rs222020 (OR 0.63, 95% CI 0.42–0.95, p = 0.03; OR 0.63, 95% CI 0.42–0.95, p = 0.03, respectively) and A allele at rs3733359 (OR 0.59, 95% CI 0.39–0.90, p = 0.01) showed the decreased risk of peripheral arthritis. G allele at rs4752 showed increased risk of uveitis (OR 2.04, 95% CI 1.12–3.72, p = 0.02). On the haplotype analyses, haplotype 2 (AGGA) protected against the development of peripheral arthritis (p = 0.01) and haplotype 3 (GAAG) was associated with an increased likelihood of uveitis (p = 0.02).Conclusion.DBP gene polymorphisms are associated with the development of peripheral arthritis and uveitis in Korean patients with AS. Given the influence of different DBP variants on the immune system, larger-scale studies are warranted to elucidate the role of DBP in the pathogenesis of AS.

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 Prevalence of vitamin D deficiency in women from southern Brazil and association with vitamin D-binding protein levels and GC-DBP gene polymorphisms

PLoS ONE ◽  
2019 ◽  
Vol 14 (12) ◽  
pp. e0226215
Author(s):  
Betânia Rodrigues Santos ◽  
Nathália Cruz Costa ◽  
Thais Rasia Silva ◽  
Karen Oppermann ◽  
Jose Antonio Magalhães ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Gene Polymorphisms ◽  
Binding Protein ◽  
Southern Brazil ◽  
Vitamin D Binding Protein ◽  
Protein Levels

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

Vitamin D-binding protein gene polymorphisms are not associated with MS risk in an Italian cohort

2017 ◽  
Vol 305 ◽  
pp. 92-95 ◽  
Author(s):  
Cristina Agliardi ◽  
Franca Rosa Guerini ◽  
Milena Zanzottera ◽  
Elisabetta Bolognesi ◽  
Andrea Saul Costa ◽  
...  
Keyword(s):  
Vitamin D ◽  
Gene Polymorphisms ◽  
Protein Gene ◽  
Binding Protein ◽  
Vitamin D Binding Protein ◽  
Binding Protein Gene ◽  
Italian Cohort

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 Clinical aspects of vitamin D-binding protein gene polymorphisms in hemodialysis patients

2015 ◽  
Vol 125 (1-2) ◽  
pp. 8-17 ◽  
Author(s):  
Alicja E. Grzegorzewska ◽  
Grzegorz Ostromecki ◽  
Adrianna Mostowska ◽  
Anna Sowińska ◽  
Paweł P. Jagodziński
Keyword(s):  
Vitamin D ◽  
Gene Polymorphisms ◽  
Protein Gene ◽  
Binding Protein ◽  
Hemodialysis Patients ◽  
Clinical Aspects ◽  
Vitamin D Binding Protein ◽  
Binding Protein Gene

scholarly journals The Isoform GC1f of the Vitamin D Binding Protein Is Associated with Bronchiectasis Severity

Biomedicines ◽  
2021 ◽  
Vol 9 (11) ◽  
pp. 1573
Author(s):  
Martina Oriano ◽  
Stefano Aliberti ◽  
Franca Rosa Guerini ◽  
Cristina Agliardi ◽  
Carlotta Di Francesco ◽  
...  
Keyword(s):  
Vitamin D ◽  
Binding Protein ◽  
Severe Disease ◽  
Cross Sectional Study ◽  
Nucleotide Polymorphisms ◽  
Vitamin D Binding Protein ◽  
Coding Region ◽  
Chronic Infections ◽  
Cross Sectional ◽  
Vitamin D Levels

Vitamin D modulates immune responses and its deficiency has been observed in more than 60% of bronchiectasis patients. Vitamin D binding protein (DBP) is coded by the GC gene, is involved in the transport of vitamin D, and includes a number of isoforms based on single nucleotide polymorphisms (SNPs) in the coding region at rs7041 and rs4855. We evaluated the possible clinical impact of DBP polymorphisms and isoforms in an observational, cross-sectional study conducted in 116 bronchiectasis patients, who were genetically characterized for rs4588 and rs7041 SNPs. Results showed that the GC1f isoform (rs7041/rs4588 A/G) correlated with a more severe disease (18.9% vs. 6.3%, p = 0.038), a higher incidence of chronic infections (63.6% vs. 42%, p = 0.041), and a lower BACI score (0.0 (0.0, 2.5) vs. 3.0 (0.0, 3.0), p = 0.035). Moreover, blood concentration of vitamin D was higher in patients carrying GC1s (median (IQR): 20.5 (14.3, 29.7 vs. 15.8 (7.6, 22.4), p = 0.037). Patients carrying GC1f isoform have a more severe disease, more chronic infections and lower asthmatic comorbidity in comparison to those without the GC1f isoform. Presence of the GC1s isoform (rs7041/rs4588 C/G) seems to be associated to a milder clinical phenotype with increased vitamin D levels and lower comorbidities score.

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