Dataset Information

Vitamin D Receptor rs2228570 and rs731236 Polymorphisms are Susceptible Factors for Systemic Lupus Erythematosus.

ABSTRACT:

Background

The Vitamin D receptor (VDR) polymorphisms are the candidate genetic variants for susceptibility to different disease including autoimmune disorders. In the present study, we aimed to assess the association between VDR polymorphisms and systemic lupus erythematosus (SLE) susceptibility in Southeast Iranian population.

Materials and methods

One hundred and twenty-seven patients with SLE and 139 controls were genotyped for VDR rs2228570, rs731236, and rs7975232 polymorphisms using polymerase chain reaction-restriction fragment length polymorphism method.

Results

The VDR rs2228570 polymorphism was associated with higher risk of SLE in codominant, dominant, and overdominant models. Moreover, higher risk of SLE was observed in individuals with VDR rs731236 polymorphism in codominant, dominant, overdominant, and allelic models. The tAf haplotype of rs731236/rs7975232/rs2228570 polymorphisms was associated with higher risk of SLE.

Conclusion

In conclusion, VDR rs2228570 and rs731236 polymorphisms and tAf haplotype were associated with SLE risk.

SUBMITTER: Salimi S

PROVIDER: S-EPMC6712894 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Publications

Vitamin D Receptor rs2228570 and rs731236 Polymorphisms are Susceptible Factors for Systemic Lupus Erythematosus.

Salimi Saeedeh S Eskandari Fatemeh F Rezaei Mahnaz M Sandoughi Mahnaz M

Advanced biomedical research 20190821

<h4>Background</h4>The Vitamin D receptor (<i>VDR</i>) polymorphisms are the candidate genetic variants for susceptibility to different disease including autoimmune disorders. In the present study, we aimed to assess the association between <i>VDR</i> polymorphisms and systemic lupus erythematosus (SLE) susceptibility in Southeast Iranian population.<h4>Materials and methods</h4>One hundred and twenty-seven patients with SLE and 139 controls were genotyped for <i>VDR</i> rs2228570, rs731236, and ...[more]

PMID: 31516886

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Project description:BackgroundSystemic lupus erythematosus (SLE) is linked to host gut dysbiosis. Here we performed faecal gut microbiome sequencing to investigate SLE-pathogenic gut microbes and their potential mechanisms.MethodsThere were 134 healthy controls (HCs) and 114 SLE cases for 16 S ribosomal RNA (rRNA) sequencing and 97 HCs and 124 SLE cases for shotgun metagenomics. Faecal microbial changes and associations with clinical phenotypes were evaluated, and SLE-associated microbial genera were identified in amplicon analysis. Next, metagenomic sequencing was applied for accurate identification of microbial species and discovery of their metabolic pathways and immunogenic peptides both relevant to SLE. Finally, contribution of specific taxa to disease development was confirmed by oral gavage into lupus-prone MRL/lpr mice.ResultsSLE patients had gut microbiota richness reduction and composition alteration, particularly lupus nephritis and active patients. Proteobacteria/Bacteroidetes (P/B) ratio was remarkably up-regulated, and Escherichia was identified as the dominantly expanded genus in SLE, followed by metagenomics accurately located Escherichia coli and Escherichia unclassified species. Significant associations primarily appeared among Escherichia coli, metabolic pathways of purine nucleotide salvage or peptidoglycan maturation and SLE disease activity index (SLEDAI), and between multiple epitopes from Escherichia coli and disease activity or renal involvement phenotype. Finally, gavage with faecal Escherichia revealed that it upregulated lupus-associated serum traits and aggravated glomerular lesions in MRL/lpr mice.ConclusionWe characterize a novel SLE exacerbating Escherichia outgrowth and suggest its contribution to SLE procession may be partially associated with metabolite changes and cross-reactivity of gut microbiota-associated epitopes and host autoantigens. The findings could provide a deeper insight into gut Escherichia in the procession of SLE.

Dataset Information

Vitamin D Receptor rs2228570 and rs731236 Polymorphisms are Susceptible Factors for Systemic Lupus Erythematosus.

Background

Materials and methods

Results

Conclusion

Publications

Vitamin D Receptor rs2228570 and rs731236 Polymorphisms are Susceptible Factors for Systemic Lupus Erythematosus.

Similar Datasets

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