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Kunz, M.* ; König, I.R.* ; Schillert, A.* ; Kruppa, J.* ; Ziegler, A.* ; Grallert, H. ; Müller-Nurasyid, M. ; Lieb, W.* ; Franke, A.* ; Ranki, A.* ; Panelius, J.* ; Koskenmies, S.* ; Hasan, T.* ; Kere, J.* ; Rönn, A.C.* ; Simon, J.C.* ; Schmidt, E.* ; Wenzel, J.* ; Tüting, T.* ; Landsberg, J.* ; Zeller, T.* ; Blankenberg, S.* ; Gläser, R.* ; Patsinakidis, N.* ; Kuhn, A.* ; Ibrahim, S.M.*

Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.

Exp. Dermatol. 24, 510-515 (2015)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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).
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Autoimmune Diseases ; Genetics ; Lupus ; Single Nucleotide Polymorphisms; Aicardi-goutieres Syndrome; Genetic Susceptibility; Clinical-features; Disease; Pathogenesis; Protein; Manifestations; Trim39; Risk; Polymorphisms
ISSN (print) / ISBN 0906-6705
e-ISSN 1600-0625
Journal Experimental Dermatology
Quellenangaben Volume: 24, Issue: 7, Pages: 510-515 Article Number: , Supplement: ,
Publisher Wiley
Publishing Place Hoboken
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology II (EPI2)
Institute of Genetic Epidemiology (IGE)