title: The genetic variation of the human HMGB1 gene.
abstract: 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.
authors.affiliation: Tissue Typing Laboratory-7631, Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. brain.kornblit@rh.hosp.dk
authors.forename: B
authors.initials: B
authors.lastname: Kornblit
authors.forename: L
authors.initials: L
authors.lastname: Munthe-Fog
authors.forename: S L
authors.initials: SL
authors.lastname: Petersen
authors.forename: H O
authors.initials: HO
authors.lastname: Madsen
authors.forename: L
authors.initials: L
authors.lastname: Vindeløv
authors.forename: P
authors.initials: P
authors.lastname: Garred
mesh_terms: D014644:Genetic Variation; D024243:HMGB1 Protein / Q000235:genetics*; D006801:Humans
chemical_list: D024243:HMGB1 Protein