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- Title
Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.
- Authors
Kunz, Manfred; König, Inke R.; Schillert, Arne; Kruppa, Jochen; Ziegler, Andreas; Grallert, Harald; Müller‐Nurasyid, Martina; Lieb, Wolfgang; Franke, Andre; Ranki, Annamari; Panelius, Jaana; Koskenmies, Sari; Hasan, Taina; Kere, Juha; Rönn, Ann‐Charlotte; Simon, Jan C.; Schmidt, Enno; Wenzel, Joerg; Tüting, Thomas; Landsberg, Jennifer
- Abstract
Cutaneous lupus erythematosus ( CLE) is a chronic autoimmune disease of the skin with typical clinical manifestations. Here, we genotyped 906 600 single nucleotide polymorphisms ( SNPs) in 183 CLE cases and 1288 controls of Central European ancestry. Replication was performed for 13 SNPs in 219 case subjects and 262 controls from Finland. Association was particularly pronounced at 4 loci, all with genomewide significance ( P < 5 × 10−8) : rs2187668 ( PGWAS = 1.4 × 10−12), rs9267531 ( PGWAS = 4.7 × 10−10), rs4410767 ( PGWAS = 1.0 × 10−9) and rs3094084 ( PGWAS = 1.1 × 10−9). All mentioned SNPs are located within the major histocompatibility complex ( MHC) region of chromosome 6 and near genes of known immune functions or associations with other autoimmune diseases such as HLA- DQ alpha chain 1 ( HLA- DQA1), MICA, MICB, MSH5, TRIM39 and RPP21. For example, TRIM39/ RPP21 read through transcript is a known mediator of the interferon response, a central pathway involved in the pathogenesis of CLE and systemic lupus erythematosus ( SLE). Taken together, this genomewide analysis of disease association of CLE identified candidate genes and genomic regions that may contribute to pathogenic mechanisms in CLE via dysregulated antigen presentation ( HLA- DQA1), apoptosis regulation, RNA processing and interferon response ( MICA, MICB, MSH5, TRIM39 and RPP21).
- Subjects
GENOMICS; LUPUS erythematosus; CHROMOSOMES; SKIN diseases
- Publication
Experimental Dermatology, 2015, Vol 24, Issue 7, p510
- ISSN
0906-6705
- Publication type
Article
- DOI
10.1111/exd.12708