In:
Experimental Dermatology, Wiley, Vol. 24, No. 7 ( 2015-07), p. 510-515
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 ( SNP s) in 183 CLE cases and 1288 controls of Central European ancestry. Replication was performed for 13 SNP s 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 ( P GWAS = 1.4 × 10 −12 ), rs9267531 ( P GWAS = 4.7 × 10 −10 ), rs4410767 ( P GWAS = 1.0 × 10 −9 ) and rs3094084 ( P GWAS = 1.1 × 10 −9 ). All mentioned SNP s 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 ‐ DQA 1 ), MICA , MICB , MSH 5 , TRIM 39 and RPP 21 . For example, TRIM 39/ RPP 21 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 ‐ DQA 1 ), apoptosis regulation, RNA processing and interferon response ( MICA , MICB , MSH 5 , TRIM 39 and RPP 21 ).
Type of Medium:
Online Resource
ISSN:
0906-6705
,
1600-0625
DOI:
10.1111/exd.2015.24.issue-7
Language:
English
Publisher:
Wiley
Publication Date:
2015
detail.hit.zdb_id:
2026228-0
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