Dataset Information

Association of rs1544410 and rs7975232 Polymorphisms and Serum Vitamin D Levels with Psoriasis Susceptibility and Severity: A Case-Control Study in Egyptian Patients.

ABSTRACT:

Background

Vitamin D is a regulatory factor for skin immune functions through vitamin D receptor, which is expressed on many immune cells. Vitamin D receptor is located on chromosome 12q 13.11 and has many single nucleotide polymorphisms. Some of them were hypothesized to be associated with psoriasis. Psoriasis is a genetic disease that is greatly affected by environmental factors.

Methods

A total of 135 psoriasis patients and 114 healthy controls were recruited. Both had a measurement of serum vitamin D and two vitamin D receptor variants:, rs1544410: G > A (HGVS:NC_000012.12:g.47846052) and rs7975232: C > A (HGVS: NC_000012.12:g.47845054). We assessed the relationship between vitamin deficiency as well as the two gene polymorphisms with psoriasis susceptibility and severity.

Results

Serum vitamin D levels were not significantly different between cases and controls. However, a significant association between vitamin D levels and severity was observed. We attributed this to our finding that rs7975232 was more significantly polymorphic among cases than controls, while rs1544410 polymorphism did not show a significant difference among the 2 groups.

Conclusion

We did not find a significant difference in serum vitamin D levels between cases and controls. Yet, psoriasis severity was significantly associated with serum vitamin D levels. We attributed this to other findings that the vitamin D receptor rs7975232 gene is polymorphic in psoriasis patients. At the same time, rs1544410 was not significantly more polymorphic in psoriasis patients. Both genes' polymorphisms were associated with severe psoriasis.

SUBMITTER: Mohamed AA

PROVIDER: S-EPMC9272842 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Association of rs1544410 and rs7975232 Polymorphisms and Serum Vitamin D Levels with Psoriasis Susceptibility and Severity: A Case-Control Study in Egyptian Patients.

Mohamed Amal Ahmed AA Elhussain Eman E Fawzy Naglaa N Sakr Yasser Y Salah El-Dien Marwa M Abbas Abbas Mohammed AM Hussein Maha S MS Nassar Nourelhuda N Ezzat Omnia O El-Amir Reham Yousry RY Ibrahim Sarah S Bedair Nermeen Ibrahim NI

Clinical, cosmetic and investigational dermatology 20220707

<h4>Background</h4>Vitamin D is a regulatory factor for skin immune functions through vitamin D receptor, which is expressed on many immune cells. Vitamin D receptor is located on chromosome 12q 13.11 and has many single nucleotide polymorphisms. Some of them were hypothesized to be associated with psoriasis. Psoriasis is a genetic disease that is greatly affected by environmental factors.<h4>Methods</h4>A total of 135 psoriasis patients and 114 healthy controls were recruited. Both had a measur ...[more]

PMID: 35832487

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Project description:Purpose: We aimed to examine the possible association role of vitamin D and vitamin D receptor (VDR) single nucleotide polymorphisms (SNPs) in type 1 diabetes mellitus (T1DM) development, glycemic control and complications among a cohort of Egyptian children. Subjects and methods: A prospective case-control study has been conducted on 50 Egyptian children with T1DM who were comparable with 50 controls. Vitamin D and HbA1c were measured. VDR-SNPs [ApaI (rs7975232), TaqI (rs731236) and BsmI (rs1544410)] detection was done by polymerase chain reaction through restriction fragment length polymorphism (PCR-RFLP) technique. Vitamin D supplements were given to the included T1DM children with low vitamin D and reassessments of both HbA1c% and 25(OH)D serum levels were performed in those children three months later. Results: Eighty percent of the included diabetic patients have poor glycemic control. Vitamin D was deficient in 68% and insufficient in 16% of diabetic patients. Significant improvements in both vitamin D and glycemic status among T1DM children, who have low vitamin D and received vitamin D supplementations. There were significantly negative correlations between serum levels of vitamin D with both HbA1c % (r= -0.358, P˂0.05) and daily insulin dose (r=-0.473, P˂0.05). Compared with controls, T1DM children presented more commonly with ApaI a allele (OR: 2.87; 95%CI: 1.39-5.91, P˂0.05) and BsmI b allele (OR: 4.38; 95%CI: 2.30-8.33, P˂0.05). TaqI t allele wasn't significantly differing among patients and controls (P˃0.05). Aa+aa and Bb+bb genotypes were significantly higher among T1DM vs the controls (OR: 3.08;, 95%CI: 1.33-7.15, P˂0.05 and OR: 9.33; 95%CI: 3.61-24.17, P˂0.05respectively). Conclusion: ApaI and BsmI were associated with risk of T1DM development among Egyptian children. Low vitamin D status was frequently occurring among T1DM with significant improvement in the glycemic control of such children when adding vitamin D supplements to the standard insulin therapy.

Project description:BackgroundAIS is the most common spinal deformity disease, yet its etiology remains uncertain. Significant associations have been found between AIS risk and vitamin D receptor (VDR) gene polymorphisms; however, some of these results are controversial. The aim of this study was to determine whether VDR BsmI rs1544410 and ApaI rs7975232 polymorphisms are correlated with AIS.MethodsDatabases, including PubMed, EMBASE, Web of Science, the Cochrane Library, the Chinese Biomedical Literature Database, and the Wanfang Database, were systematically searched, and eligible case-control studies that explored the association of VDR (BsmI and ApaI) and the susceptibility to AIS were selected. The pooled odds ratio (OR) with 95% confidence interval (95% CI) was calculated to assess the associations, and subgroup meta-analyses were performed according to the ethnicity of the study population.ResultsA total of 5 studies with 717 cases and 554 controls fulfilled the inclusion criteria after assessment by 2 reviewers. Generally, significant correlations were found between the BsmI polymorphism and AIS risk in overall populations and in Asian populations (overall population: B vs b: OR = 2.12, 95% CI = 1.21-3.75, P = .009; BB vs bb: OR = 3.38, 95% CI = 1.08-10.57, P = .036; Bb vs bb: OR = 2.50, 95% CI = 1.29-4.82, P = .006; BB/Bb vs bb: OR = 2.71, 95% CI = 1.31-5.63, P = .007; Asian population: B vs b: OR = 2.42, 95% CI = 1.27-4.61, P = .007; BB vs bb: OR = 4.09, 95% CI = 1.03-16.22, P = .045; Bb vs bb: OR = 2.94, 95% CI = 1.42-6.10, P = .004; BB/Bb vs bb: OR = 3.23, 95% CI = 1.42-7.35, P = .005). There was no significant association observed in Caucasian populations (all P > .05). With regard to the ApaI polymorphism, we found that it significantly decreased the risk of AIS (Aa vs AA: OR = 0.43, 95% CI = 0.24-0.77, P = .004; Aa/aa vs AA: OR = 0.52, 95% CI = 0.30-0.91, P = .023); however, we could not draw a definitive conclusion for Caucasian populations, as no studies have been conducted in this group to determine the role of the VDR ApaI polymorphism in AIS etiology and development.ConclusionVDR BsmI was significantly associated with AIS susceptibility in the overall and Asian populations, while the VDR ApaI polymorphism only played a key role in AIS etiology and development in Asian populations.

Project description:ImportanceTopical vitamin D analogues are routine treatment for psoriasis, but the effect of oral supplementation has not been established.ObjectiveTo examine the effect of vitamin D supplementation on psoriasis severity throughout the winter.Design, setting, and participantsThis randomized, double-blind placebo-controlled clinical trial with 2 parallel groups was performed through 2 winter seasons (2017 to 2018 and 2018 to 2019). Randomization was computer generated. All participants, health care clinicians, and outcome assessors were masked to group assignment. Each participant was followed for 4 months. The presented analyses were conducted in May 2022. The trial was conducted at the clinical research unit of the University Hospital of North Norway (Tromsø; Norway). Adults from the general population in Tromsø with active plaque psoriasis and 25-hydroxyvitamin D (25[OH]D) levels of less than 24 ng/mL (to convert to nmol/L, multiply by 2.496) were included.InterventionVitamin D (cholecalciferol, 100 000 IU, loading dose, followed by 20 000 IU/week) or placebo for 4 months.Main outcomes and measuresPsoriasis Area Severity Index (PASI) (primary outcome), Physician Global Assessment, self-administered PASI, and Dermatology Life Quality Index scores (secondary outcomes).ResultsA total of 122 participants (46 women [37.7%]; mean [SD] age, 53.6 [10.0] years; mean [SD] PASI score, 3.1 [2.0]; mean [SD] serum 25(OH)D, 14.9 [3.9] ng/mL) were included. Of these, 60 (49.2%) were randomized to the vitamin D group and 62 (50.8%) to the placebo group. A total of 120 participants (59 vitamin D [49.2%]/61 placebo [51.8%]) completed the study. By completion, mean (SD) 25(OH)D levels were 29.7 (5.2) ng/mL (vitamin D) and 12.0 (3.8) ng/mL (placebo). There was no significant difference in change in PASI score between the groups (adjusted difference, 0.11; 95% CI, -0.23 to 0.45). There was no significant difference in change in Physician Global Assessment score (adjusted odds ratio, 0.66; 95% CI, 0.27-1.63), self-administered PASI (adjusted difference, -0.60; 95% CI, -1.76 to 0.55) or Dermatology Life Quality Index (adjusted difference, -0.86; 95% CI, -1.9 to 0.19) between the groups. No adverse effects of the intervention were registered.Conclusion and relevanceThe results of this randomized clinical trial showed that vitamin D supplementation did not affect psoriasis severity. Low baseline severity scores may explain the lack of measurable effect. Levels of 25(OH)D in the intervention group increased to a less-than-expected degree based on previous experimental data from the same source population, and this may have affected the results.Trial registrationClinicalTrials.gov Identifier: NCT03334136.

Dataset Information

Association of rs1544410 and rs7975232 Polymorphisms and Serum Vitamin D Levels with Psoriasis Susceptibility and Severity: A Case-Control Study in Egyptian Patients.

Background

Methods

Results

Conclusion

Publications

Association of rs1544410 and rs7975232 Polymorphisms and Serum Vitamin D Levels with Psoriasis Susceptibility and Severity: A Case-Control Study in Egyptian Patients.

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