title: Genetics in Sjögren Syndrome.
abstract: The genes associated with Sjögren syndrome (SS) can be assigned to the NF-kB pathway, the IFN signaling pathway, lymphocyte signaling, and antigen presentation. The frequencies of risk variants show they are common with modest genetic effects. The strongest genetic association outside the human leukocyte antigen region is in IRF5, a gene relevant in the IFN signaling pathway and for B cell differentiation. Although no association has been found with the NF-kB gene itself, associations in TNFAIP3 and TNIP1 (both genome-wide significant), VCAM1 and IRAK1BP (both suggestive), point to genetic explanations for dysregulation of the NF-kB pathway in SS.
authors.affiliation: Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, 825 Northeast 13th Street, Oklahoma City, OK 73104, USA; Broegelmann Research Laboratory, Department of Clinical Science, University of Bergen, The Laboratory Building, Haukeland University Hospital, Jonas Lies vei 87, N-5021 Bergen, Norway.
authors.forename: Tove Ragna
authors.initials: TR
authors.lastname: Reksten
authors.affiliation: Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, 825 Northeast 13th Street, Oklahoma City, OK 73104, USA; Department of Pathology, University of Oklahoma Health Sciences Center, 940 Stanton L. Young Boulevard, MBSB 451, Oklahoma City, OK 73104, USA.
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Lessard
authors.affiliation: Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, 825 Northeast 13th Street, Oklahoma City, OK 73104, USA; Department of Pathology, University of Oklahoma Health Sciences Center, 940 Stanton L. Young Boulevard, MBSB 451, Oklahoma City, OK 73104, USA. Electronic address: sivilsk@omrf.org.
authors.forename: Kathy L
authors.initials: KL
authors.lastname: Sivils
mesh_terms: D017951:Antigen Presentation / Q000235:genetics; D001402:B-Lymphocytes; D002454:Cell Differentiation / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics; D007372:Interferons / Q000235:genetics; D007378:Interleukins / Q000235:genetics; D008214:Lymphocytes; D016328:NF-kappa B; D054380:Receptors, CXCR5 / Q000235:genetics; D050797:STAT4 Transcription Factor / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics; D012859:Sjogren's Syndrome / Q000235:genetics*; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3 / Q000235:genetics; D019010:Vascular Cell Adhesion Molecule-1 / Q000235:genetics; D019061:src-Family Kinases / Q000235:genetics
chemical_list: C095085:CXCR5 protein, human; D004268:DNA-Binding Proteins; D006680:HLA Antigens; C496971:IL32 protein, human; C431713:IRF5 protein, human; D050835:Interferon Regulatory Factors; D007378:Interleukins; D016328:NF-kappa B; D054380:Receptors, CXCR5; D050797:STAT4 Transcription Factor; C494090:STAT4 protein, human; C117046:TNIP1 protein, human; D019010:Vascular Cell Adhesion Molecule-1; D007372:Interferons; C584409:BLK protein, human; D019061:src-Family Kinases; C076529:TNFAIP3 protein, human; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3
keywords: Genetics; Human leukocyte antigen; RNA; Sjögren syndrome