China
Africa
Explore chapters and articles related to this topic
Genetics of Psoriasis and Psoriatic Arthritis
Published in Siba P. Raychaudhuri, Smriti K. Raychaudhuri, Debasis Bagchi, Psoriasis and Psoriatic Arthritis, 2017
Outside of the MHC, the copy number variation (CNV) in the LCE cluster associated with psoriasis, LCE3C_LCE3B-del, is also associated with PsA in British, Italian, and Spanish populations [123,124], but not in German or Tunisian cohorts of PsA patients [79,125]. Meta-analysis of the association with LCE3C_LCE3B-del suggests that it is indeed a susceptibility locus for PsA, as well as for psoriasis [126]. Candidate gene association studies, GWASs, and meta-analyses have found significant or at least nominally significant associations with known or newly identified psoriasis susceptibility loci HCP5, IL12B, TRAF3IP2, TNIP1, LCE, IL23A, IL23R, IFIH1, ERAP1, REL, RUNX3, NOS2, FBXL19, RNF114, and PSMA6-NFKBIA [70,73,76,84,126–140]. In addition, a locus on chromosome 4q27 containing IL2 and IL21 genes, previously associated with PsA but not psoriasis in a small GWAS, was later found to be associated with psoriasis as well [70,141]. These findings emphasize the strong genetic overlap between psoriasis and PsA.
Exome-chip meta-analysis identifies association between variation in ANKRD26 and platelet aggregation
Published in Platelets, 2019
Ming-Huei Chen, Lisa R. Yanek, Joshua D. Backman, John D. Eicher, Jennifer E. Huffman, Yoav Ben-Shlomo, Andrew D. Beswick, Laura M. Yerges-Armstrong, Alan R. Shuldiner, Jeffrey R. O’Connell, Rasika A. Mathias, Diane M. Becker, Lewis C. Becker, Joshua P. Lewis, Andrew D. Johnson, Nauder Faraday
Our SNV meta-analysis identified a common intronic variant in HCP5 associated with ADP-induced aggregation. We observed modest replication of this finding in CaPS and the GeneSTAR AA cohorts (P = 0.044 and 0.039, respectively). HCP5 encodes a long non-coding RNA within a region that is rich in DNAse I hypersensitivity sites, which are particularly notable in cells of hematopoietic origin. Using BLUEPRINT Consortium data, we show direct overlap of rs2263316 with CD34-CD41+CD42+ megakaryocytic cell peaks for hypermethylation and H3K9me3 histone marks. This SNV is also nearly adjacent to an H3K27me3 peak. These histone marks generally reflect repressive regulatory effects and suggest HCP5 may have specific roles and expression in megakaryocytes. From public gene expression resources, tissues with the highest RNA expression of HCP5 include bone marrow, whole blood, immune cells and spleen. Interestingly, SNVs in HCP5 are associated with disease progression and viral load in patients with HIV infection, suggesting an immunomodulatory role for HCP5 [30]; however, an association with platelet function has not previously been described. Additional studies are required to confirm this association and determine its molecular basis.
Biomarkers of lymphoma in Sjögren’s syndrome: what’s the latest?
Published in Expert Review of Clinical Immunology, 2022
Ioanna E. Stergiou, Athanasios-Dimitrios Bakasis, Stavroula Giannouli, Michael Voulgarelis
HLA complex P5 (HCP5) gene polymorphisms have been associated with the production of anti-Ro/SSA antibodies [147]. In 2019, a study of HCP5 gene polymorphisms in a large cohort of 195 pSS patients showed an association of the HCP5 rs3099844 variant with anti-SSA (OR: 3.07, p = 0.006) and anti-SSB (OR: 2.66, p = 0.005) antibodies, severity of FS (OR: 12, p = 0.03), and lymphoma development (OR: 7.23, p = 0.002) [148].