Dataset Information

Association of singlenucleotide NR3C1 gene polymorphisms with glucocorticosteroid responsiveness in patients with pemphigus vulgaris.

ABSTRACT: The glucocorticosteroid (GC) is crucial when managing patients with pemphigus vulgaris (PV). Polymorphisms in the gene encoding the nuclear receptor subfamily 3, group C, member 1 (NR3C1) protein (the GC receptor) may explain the variations in treatment efficacy. We evaluated the effects of 10 single nucleotide polymorphisms (SNPs) in the NR3C1 gene and the correlations with the GC responsiveness in patients with PV. The accumulative GC doses were recorded, and patients were assessed for the Pemphigus Disease Activity Index (PDAI) scores until the GC doses would be tapered. Whole blood samples at the initial visit were genotyped using TaqMan SNP Genotyping. In the NR3C1 gene, SNPs were detected in 6 (rs17209237, rs11745958, rs7701443, rs41423247, rs33388, and rs6196); the genotypes rs17209237 AA, rs11745958 CC, and rs6196 AG may be associated with a need for a lower accumulative GC dose; rs17209237 AA and rs6196 AG with shorter times to commencement of tapering; and rs17209237 AA and rs11745958 CC with shorter times to attainment of 50 and 25% PDAI scores. Thus, NR3C1 gene variations may predict GC responsiveness in PV patients.

SUBMITTER: Le TVT

PROVIDER: S-EPMC9251520 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Association of singlenucleotide NR3C1 gene polymorphisms with glucocorticosteroid responsiveness in patients with pemphigus vulgaris.

Le Thai Van Thanh TVT Nguyen Duy Quan DQ Tran Ngoc Dang ND Tu Trinh Hoang Kim HK

Dermatology reports 20211005 2

The glucocorticosteroid (GC) is crucial when managing patients with pemphigus vulgaris (PV). Polymorphisms in the gene encoding the nuclear receptor subfamily 3, group C, member 1 (NR3C1) protein (the GC receptor) may explain the variations in treatment efficacy. We evaluated the effects of 10 single nucleotide polymorphisms (SNPs) in the NR3C1 gene and the correlations with the GC responsiveness in patients with PV. The accumulative GC doses were recorded, and patients were assess ...[more]

PMID: 35795836

Similar Datasets

Project description:BackgroundGut dysbiosis and gut microbiome-derived metabolites have been implicated in both disease onset and treatment response, but this has been rarely demonstrated in pemphigus vulgaris (PV). Here, we aim to systematically characterize the gut microbiome to assess the specific microbial species and metabolites associated with PV.MethodsWe enrolled 60 PV patients and 19 matched healthy family members, and collected 100 fecal samples (60 treatment-naïve, 21 matched post-treatment, and 19 controls). Metagenomic shotgun sequencing and subsequent quality control/alignment/annotation were performed to assess the composition and microbial species, in order to establish the association between gut microbiome with PV onset and treatment response. In addition, we evaluated short-chain fatty acids (SCFAs) in PV patients through targeted metabolomics analysis.ResultsThe diversity of the gut microbiome in PV patients deviates from the healthy family members but not between responder and non-responder, or before and after glucocorticoid treatment. However, the relative abundance of several microbial species, including the pathogenic bacteria (e.g., Escherichia coli) and some SCFA-producing probiotics (e.g., Eubacterium ventriosum), consistently differed between the two groups in each comparison. Escherichia coli was enriched in PV patients and significantly decreased after treatment in responders. In contrast, Eubacterium ventriosum was enriched in healthy family members and significantly increased particularly in responders after treatment. Consistently, several gut microbiome-derived SCFAs were enriched in healthy family members and significantly increased after treatment (e.g., butyric acid and valeric acid).ConclusionsThis study supports the association between the gut microbiome and PV onset, possibly through disrupting the balance of gut pathogenic bacteria and probiotics and influencing the level of gut microbiome-derived SCFAs. Furthermore, we revealed the potential relationship between specific microbial species and glucocorticoid treatment.

Dataset Information

Association of singlenucleotide NR3C1 gene polymorphisms with glucocorticosteroid responsiveness in patients with pemphigus vulgaris.

Publications

Association of singlenucleotide <i>NR3C1</i> gene polymorphisms with glucocorticosteroid responsiveness in patients with pemphigus vulgaris.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets