Genetic Analysis of Psoriasis and Psoriatic Arthritis
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ABSTRACT:
PROVIDER: PRJNA294479 | ENA |
REPOSITORIES: ENA
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Project description:Genome-wide DNA methylation profiling of motile spermatozoa from 23 patients with psoriasis without arthritis, 13 psoriatic arthritis, and 18 unaffected controls using the Infinium HumanMethylation 450k v1 platform.
2019-02-02 | GSE126017 | GEO
Project description:<p>This study is a genome-wide study of genetic associations with psoriatic arthritis (PsA), an inflammatory musculoskeletal condition that develops in up to 30% of people who have chronic psoriasis skin lesions. 1,526 cases affected with psoriatic arthritis and 1,508 unaffected controls were recruited and typed on the Illumina HumanOmni1-Quad BeadChip array. After application of quality control measures to both samples and SNPs, genotypes for 791,217 autosomal SNPs were available for 1,430 PsA cases and 1,417 controls. Imputation using phased haplotypes for the EUR subpopulation of release 3, phase 1 of the 1000 Genomes Project as a reference, resulted in genotypes for 11,532,644 SNPs and 918,976 indels passing our imputation quality threshold (Mach r<sup>2</sup> ≥ 0.3) that were available for downstream analysis. Association at a genome-wide threshold of significance was found for five regions (near genes <i>TNIP1</i>, <i>IL12B</i>, <i>HLA-C</i>, <i>TRAF3IP2</i>, and <i>TYK2</i>).</p>
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Project description:We report changes in gene expression in human peripheral blood neutrophils from patients with psoriatic arthritis (PsA) before and 12-weeks after treatment with Secukinumab (SKB, 150mg). All patients achieved a good PSARC (Psoriatic Arthritis Response Criteria) and PASI 90 (Psoriasis Area and Severity Index) response to treatment. We also report gene expression in healthy control neutrophils compared to patients wth psoriatic arthritis.
2023-01-06 | GSE179800 | GEO
Project description:Characterize active synovial fluid (SF) serine proteinases in psoriatic arthritis (PsA) in comparison to osteoarthritis (OA) and rheumatoid arthritis (RA)
2021-03-29 | PXD022442 | Pride
Project description:Epigenomic analysis of sperm cells from patients with psoriatic arthritis, psoriasis without arthritis, and healthy controls
| PRJNA518901 | ENA
Project description:Background: Psoriasis is a systemic inflammatory disease primarily affecting the skin. Approximately one-third of psoriasis patients develop joint involvement and are diagnosed with psoriatic arthritis (PsA). While, inIn adult-onset disease, adults, the development of arthritis usually follows skin psoriasis, but approximately 15% experience arthritis first, which can delay diagnosis. While the pathophysiology of psoriasis and PsA is incompletely understood, epigenetic dysregulation affecting CD4+ and CD8+ T-cells has been suggested. Objectives: This project aimed to identify disease-associated DNA methylation signatures in CD4+ T-cells from psoriasis and PsA patients that may be used as diagnostic and/or prognostic biomarkers. Methods: PBMCs were collected from 12 patients with chronic plaque skin psoriasis and 8 PsA patients, and 8 healthy controls. CD4+ T-cells were separated through FACS sorting, and DNA methylation profiling was performed (Illumina EPIC850K arrays). Bioinformatic analyses, including gene ontology (GO) and KEGG pathway analysis, were performed using R software. To identify genes under the control of interferon (IFN), the Interferome database was consulted, and DNA Methylation Scores were calculated. Results: Numbers and proportions of CD4+ T-cell subsets (naïve, central memory, effector memory, CD45RA re-expressing effector memory cells) did not vary between controls, skin psoriasis and PsA patients. 883 differentially methylated positions (DMPs) affecting 548 genes were identified between healthy controls and “all” psoriasis patients. Principal component and partial least-squares discriminant analysis separated controls from skin psoriasis and PsA patients. GO analysis considering promoter DMPs delivered hypermethylation of genes involved in “regulation of wound healing, spreading of epidermal cells”, “negative regulation of cell-substrate junction organization” and “negative regulation of focal adhesion assembly”. Comparing controls and “all” psoriasis, a majority of DMPs mapped to IFN-related genes (69.2%). Notably, DNA methylation profiles also distinguished skin psoriasis from PsA patients (2,949 DMPs/1,084 genes) through genes affecting “cAMP-dependent protein kinase inhibitor activity” and “cAMP-dependent protein kinase regulator activity” (GO analysis). Treatment with cytokine inhibitors (IL-17/TNF) corrected DNA methylation patterns of IL-17/TNF-associated genes, and methylation scores correlated with skin disease activity scores (PASI). Conclusion: DNA methylation profiles in CD4+ T-cells discriminate between skin psoriasis and PsA. DNA methylation signatures may be applied for quantification of disease activity and patient stratification towards individualized treatment. The aim of this study was to identify disease-associated DNA methylation signatures in CD4+ T-cells from patients with psoriasis and PsA that may be used as diagnostic and/or prognostic biomarkers to inform treatment and care.
2023-09-14 | GSE236694 | GEO
Project description:Background: Psoriasis is a systemic inflammatory disease primarily affecting the skin. Approximately one-third of psoriasis patients develop joint involvement and are diagnosed with psoriatic arthritis (PsA). While, inIn adult-onset disease, adults, the development of arthritis usually follows skin psoriasis, but approximately 15% experience arthritis first, which can delay diagnosis. While the pathophysiology of psoriasis and PsA is incompletely understood, epigenetic dysregulation affecting CD4+ and CD8+ T-cells has been suggested. Objectives: This project aimed to identify disease-associated DNA methylation signatures in CD4+ T-cells from psoriasis and PsA patients that may be used as diagnostic and/or prognostic biomarkers. Methods: PBMCs were collected from 12 patients with chronic plaque skin psoriasis and 8 PsA patients, and 8 healthy controls. CD4+ T-cells were separated through FACS sorting, and DNA methylation profiling was performed (Illumina EPIC850K arrays). Bioinformatic analyses, including gene ontology (GO) and KEGG pathway analysis, were performed using R software. To identify genes under the control of interferon (IFN), the Interferome database was consulted, and DNA Methylation Scores were calculated. Results: Numbers and proportions of CD4+ T-cell subsets (naïve, central memory, effector memory, CD45RA re-expressing effector memory cells) did not vary between controls, skin psoriasis and PsA patients. 883 differentially methylated positions (DMPs) affecting 548 genes were identified between healthy controls and “all” psoriasis patients. Principal component and partial least-squares discriminant analysis separated controls from skin psoriasis and PsA patients. GO analysis considering promoter DMPs delivered hypermethylation of genes involved in “regulation of wound healing, spreading of epidermal cells”, “negative regulation of cell-substrate junction organization” and “negative regulation of focal adhesion assembly”. Comparing controls and “all” psoriasis, a majority of DMPs mapped to IFN-related genes (69.2%). Notably, DNA methylation profiles also distinguished skin psoriasis from PsA patients (2,949 DMPs/1,084 genes) through genes affecting “cAMP-dependent protein kinase inhibitor activity” and “cAMP-dependent protein kinase regulator activity” (GO analysis). Treatment with cytokine inhibitors (IL-17/TNF) corrected DNA methylation patterns of IL-17/TNF-associated genes, and methylation scores correlated with skin disease activity scores (PASI). Conclusion: DNA methylation profiles in CD4+ T-cells discriminate between skin psoriasis and PsA. DNA methylation signatures may be applied for quantification of disease activity and patient stratification towards individualized treatment. The aim of this study was to identify disease-associated DNA methylation signatures in CD4+ T-cells from patients with psoriasis and PsA that may be used as diagnostic and/or prognostic biomarkers to inform treatment and care.
2023-09-14 | GSE236695 | GEO
Project description:This is a pilot single cell mRNA sequencing experiment to study immune cells in psoriatic arthritis.
| EGAS00001002104 | EGA
Project description:Whole genome sequencing of immune cells from patients diagnosed with psoriatic arthritis
| EGAS00001002822 | EGA
Project description:Background: Psoriasis is a T cell-mediated chronic autoimmune/inflammatory disease. While some patients experience disease limited to the skin (skin psoriasis), others develop joint involvement (psoriatic arthritis; PsA). In the absence of disease- and/or outcome-specific biomarkers, and as arthritis can precede skin manifestations, diagnostic and therapeutic delays are common and contribute to disease burden and damage accrual. Objective: Altered epigenetic marks, including DNA methylation, contribute to effector T cell phenotypes and altered cytokine expression in autoimmune/inflammatory diseases. This project aimed at the identification of disease-/outcome-specific DNA methylation signatures in CD8+ T cells from patients with psoriasis and PsA as compared to heathy controls. Method: Peripheral blood CD8+ T cells from 9 healthy controls, 10 psoriasis and 7 PsA patients were collected to analyze DNA methylation marks using Illumina Human Methylation EPIC BeadChips (>850,000 CpGs per sample). Bioinformatic analysis was performed using R (minfi, limma, ChAMP and DMRcate packages). Results: DNA methylation profiles in CD8+ T cells differentiate healthy controls from psoriasis patients (397 Differentially Methylated Positions (DMPs); 9 Differentially Methylated Regions (DMRs) when ≥CpGs per DMR were considered; 2 DMRs for ≥10 CpGs). Furthermore, patients with skin psoriasis can be discriminated from PsA patients (1861 DMPs, 20 DMRs (≥5 CpGs per region), 4 DMRs (≥10 CpGs per region)). Gene ontology (GO) analyses considering genes with ≥1 DMP in their promoter delivered methylation defects in skin psoriasis and PsA primarily affecting the BMP signaling pathway and endopeptidase regulator activity, respectively. GO analysis of genes associated with DMRs between skin psoriasis and PsA demonstrated an enrichment of GABAergic neuron and cortex neuron development pathways. Treatment with cytokine blockers associated with DNA methylation changes (2372 DMPs; 1907 DMPs within promoters, 7 DMRs (≥5CpG per regions)) affecting transforming growth factor beta receptor and transmembrane receptor protein serine/threonine kinase signaling pathways. Lastly, a methylation score including TNF and IL-17 pathway associated DMPs inverse correlates with skin disease activity scores (PASI). Conclusion: Patients with skin psoriasis exhibit DNA methylation patterns in CD8+ T cells that allow differentiation from PsA patients and healthy individuals, and reflect clinical activity of skin disease. Thus, DNA methylation profiling promises potential as diagnostic and prognostic tool to be used for molecular patient stratification towards individualized treatment. This project aimed at the identification of disease-/outcome-specific DNA methylation signatures in CD8+ T cells from patients with psoriasis and PsA as compared to heathy controls.
2021-09-22 | GSE184500 | GEO