Four single nucleotide polymorphisms from the Vitamin D Receptor Gene in UK Multiple Sclerosis

Purpose. Dental caries is a multifactorial infectious disease. In this study, we investigated whether single nucleotide polymorphisms (SNPs) in vitamin D receptor (VDR) gene were associated with susceptibility to permanent tooth caries in Chinese adolescents. Method. A total of 200 dental caries patients and 200 healthy controls aged 12 years were genotyped for VDR gene polymorphisms using the PCR-restriction fragment length polymorphism (PCR-RFLP) assay. All of them were examined for their oral and dental status with the WHO criteria, and clinical information such as the Decayed Missing Filled Teeth Index (DMFT) was evaluated. Genomic DNA was extracted from the buccal epithelial cells. The four polymorphic SNPs (Bsm I, Taq I, Apa I, and Fok I) in VDR were assessed for both genotypic and phenotypic susceptibilities. Results. Among the four examined VDR gene polymorphisms, the increased frequency of the CT and CC genotype of the Fok I VDR gene polymorphism was associated with dental caries in 12-year-old adolescent, compared with the controls (X2 = 17.813, p≤0.001). Moreover, Fok I polymorphic allele C frequency was significantly increased in the dental caries cases, compared to the controls (X2 = 14.144, p≤0.001, OR = 1.730, 95% CI = 1.299–2.303). However, the other three VDR gene polymorphisms (Bsm I, Taq I, and Apa I) showed no statistically significant differences in the caries groups compared with the controls. Conclusion. VDR-Fok I gene polymorphisms may be associated with susceptibility to permanent tooth caries in Chinese adolescent.

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Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene

Human Molecular Genetics ◽

10.1093/hmg/ddh169 ◽

2004 ◽

Vol 13 (15) ◽

pp. 1633-1639 ◽

Cited By ~ 129

Author(s):

Sergey Nejentsev ◽

Lisa Godfrey ◽

Hywel Snook ◽

Helen Rance ◽

Sarah Nutland ◽

...

Keyword(s):

Vitamin D ◽

Linkage Disequilibrium ◽

High Resolution ◽

Vitamin D Receptor ◽

Receptor Gene ◽

Vitamin D Receptor Gene ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

High Resolution Analysis ◽

Resolution Analysis

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Vitamin D receptor gene polymorphism is associated with reduced disability in multiple sclerosis

Multiple Sclerosis Journal ◽

10.1177/1352458508094643 ◽

2008 ◽

Vol 14 (9) ◽

pp. 1280-1283 ◽

Cited By ~ 26

Author(s):

G Mamutse ◽

J Woolmore ◽

E Pye ◽

J Partridge ◽

M Boggild ◽

...

Keyword(s):

Multiple Sclerosis ◽

Vitamin D ◽

Vitamin D Receptor ◽

Odds Ratio ◽

Receptor Gene ◽

Cumulative Exposure ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

High Exposure ◽

Low Exposure

Ultraviolet radiation (UVR) may contribute to multiple sclerosis (MS) outcome by a mechanism involving vitamin D and the vitamin D receptor (VDR). In 512 patients with MS duration of 10 or more years, we studied the association of VDR single nucleotide polymorphisms (A/G1229, C/G3444, G/A3944, CC20965, CC30056, F/f30875, C/T48200, T/t65013) with outcome or disability. ff30875 frequency was lower in cases with EDSS ≥ 6.0 than with scores < 6.0 (odds ratio = 0.38, 95% CI = 0.20–0.70). The association of ff30875 with outcome was not mediated by cumulative exposure to UVR as assessed by questionnaire; low exposure (odds ratio = 0.42, 95% CI = 0.14–1.34) and high exposure (odds ratio = 0.34, 95% CI = 0.16–0.73).

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

Scientific Reports ◽

10.1038/s41598-021-93243-3 ◽

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.

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