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    Tissue Antigens. 2007 Aug;70(2):151-6.

    The genetic variation of the human HMGB1 gene.

    Kornblit B, Munthe-Fog L, Petersen SL, Madsen HO, Vindeløv L, Garred P.

    Tissue Typing Laboratory-7631, Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. brain.kornblit@rh.hosp.dk

    High-mobility group box 1 protein (HMGB1) is a nuclear DNA-binding protein, which also functions as a pleiotropic cytokine, implicated in the pathology of several different immune-mediated diseases. The purpose of this study was to examine the HMGB1 gene for putative polymorphisms in 103 healthy Caucasian Danish blood donors. A total of six polymorphisms and four mutations were identified in the HMGB1 gene. Subsequent MatInspector estimation revealed that several polymorphisms might have a potential regulatory impact on HMGB1 transcription. This study has characterized genetic variations in the HMGB1 gene locus, which may have a regulating role in the expression of HMGB1, providing the basis for molecular investigations of the HMGB1 gene in different disease settings.

    PMID: 17610420 [PubMed - indexed for MEDLINE]

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