Early‐onset pauciarticular juvenile chronic arthritis is associated with a mutation in the Y‐box of the HLA‐DQA1 promoter

J. P. Haas, A. Kimura, H. Truckenbrodt, J. Suschke, T. Sasazuki, A. Volgger, E. D. Albert

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43 Citations (Scopus)

Abstract

Abstract: Early‐onset pauciarticular juvenile chronic arthritis (EOPA‐JCA) has associations with different alleles of the MHC region (HLA‐A2, DR5, 6, 8, DQA 1*0401, *0501, *0601 and DPB1*0201). All susceptible DQA1 alleles carry an exclusive sequence motif. MHC‐class II gene expression is controlled by 5′ flanking upstream regulatory regions (URR). A hypervariable region in the promoter region of the HLA‐DQA1 gene (‐240 and‐200 base pairs upstream) defines ten different QAP (DQA1‐Promoter) alleles, which are associated with certain DQA1‐alleles. The Y‐Box in the DQA1 promoter (YC‐Box‐125 to‐115 upstream from the ATG) differs from the consensus sequence (‐123 A for G) of all other MHC class II Y‐Boxes, resulting in a lower affinity to the NF‐Y transcription factor and in a reduced expression of DQA1. A second substitution in the Y‐Box of QAP 4.1 and 4.2 (‐119 A for G) is found in the promoter alleles of the DQA 1‐alleles (DQA 1*0401, *0501, *0601) and is strongly associated with susceptibility to EOPA‐JCA.

Original languageEnglish
Pages (from-to)317-321
Number of pages5
JournalTissue antigens
Volume45
Issue number5
DOIs
Publication statusPublished - May 1995

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Immunology
  • Biochemistry
  • Genetics

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