ArticlePloS one2013
An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 48 citations in OpenAlex.
- HLA-C*06:02-independent, gender-related association of PSORS1C3 and PSORS1C1/CDSN single-nucleotide polymorphisms with risk and severity of psoriasis.Molecular genetics and genomics : MGG · 2018Trial
- Harnessing Natural Compounds in Psoriasis: Targeting Cellular Pathways for Effective Therapy.Phytotherapy research : PTR · 2026Review
- Disease-linked regulatory DNA variants and homeostatic transcription factors in epidermis.Nature communications · 2025Article
- Genome‑wide association study and polygenic risk scores predict psoriasis and its shared phenotypes in Taiwan.Molecular medicine reports · 2024Article
- Profiles of cytokines in patients with antineutrophil cytoplasmic antibody-associated vasculitis.Frontiers in immunology · 2024Article
- Group AScience immunology · 2023Article
- The critical importance of epigenetics in autoimmune-related skin diseases.Frontiers of medicine · 2023Review
- PSORS1 Locus Genotyping Profile in Psoriasis: A Pilot Case-Control Study.Diagnostics (Basel, Switzerland) · 2022Article
- RNA sequencing of blood in coronary artery disease: involvement of regulatory T cell imbalance.BMC medical genomics · 2021Article
- Epigenetics in Non-tumor Immune-Mediated Skin Diseases.Molecular diagnosis & therapy · 2021Review
- DNA Methylation Patterns of Chronic Explosive Breaching in U.S. Military Warfighters.Frontiers in neurology · 2020Article
- The Dual Role of HLA-C in Tolerance and Immunity at the Maternal-Fetal Interface.Frontiers in immunology · 2019Review
- Article
- The Genetic Basis of Psoriasis.International journal of molecular sciences · 2017Review
- Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases.Nature genetics · 2015Article
- Fine mapping of eight psoriasis susceptibility loci.European journal of human genetics : EJHG · 2015Article
- Complex role of TNF variants in psoriatic arthritis and treatment response to anti-TNF therapy: evidence and concepts.The Journal of investigative dermatology · 2014Article
- Fine mapping major histocompatibility complex associations in psoriasis and its clinical subtypes.American journal of human genetics · 2014Article
- Psoriasis.Cold Spring Harbor perspectives in medicine · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 3 institutions in 3 countries.
Funding
Abstract
Psoriasis is an immune-mediated skin disorder that is inherited as a complex genetic trait. Although genome-wide association scans (GWAS) have identified 36 disease susceptibility regions, more than 50% of the genetic variance can be attributed to a single Major Histocompatibility Complex (MHC) locus, known as PSORS1. Genetic studies indicate that HLA-C is the strongest PSORS1 candidate gene, since markers tagging HLA-Cw*0602 consistently generate the most significant association signals in GWAS. However, it is unclear whether HLA-Cw*0602 is itself the causal PSORS1 allele, especially as the role of SNPs that may affect its expression has not been investigated. Here, we have undertaken an in-depth molecular characterization of the PSORS1 interval, with a view to identifying regulatory variants that may contribute to disease susceptibility. By analysing high-density SNP data, we refined PSORS1 to a 179 kb region encompassing HLA-C and the neighbouring HCG27 pseudogene. We compared multiple MHC sequences spanning this refined locus and identified 144 candidate susceptibility variants, which are unique to chromosomes bearing HLA-Cw*0602. In parallel, we investigated the epigenetic profile of the critical PSORS1 interval and uncovered three enhancer elements likely to be active in T lymphocytes. Finally we showed that nine candidate susceptibility SNPs map within a HLA-C enhancer and that three of these variants co-localise with binding sites for immune-related transcription factors. These data indicate that SNPs affecting HLA-Cw*0602 expression are likely to contribute to psoriasis susceptibility and highlight the importance of integrating multiple experimental approaches in the investigation of complex genomic regions such as the MHC.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.