Genetics in Sjögren Syndrome

Tove Ragna Reksten; Christopher J Lessard; Kathy L Sivils

doi:10.1016/j.rdc.2016.03.003

Genetics in Sjögren Syndrome

Rheum Dis Clin North Am. 2016 Aug;42(3):435-47. doi: 10.1016/j.rdc.2016.03.003. Epub 2016 Jun 21.

Authors

Tove Ragna Reksten¹, Christopher J Lessard², Kathy L Sivils³

Affiliations

¹ 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.
² 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.
³ 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: [email protected].

PMID: 27431346
DOI: 10.1016/j.rdc.2016.03.003

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.

Keywords: Genetics; Human leukocyte antigen; RNA; Sjögren syndrome.

Publication types

Review

MeSH terms

Antigen Presentation / genetics
B-Lymphocytes
Cell Differentiation / genetics
DNA-Binding Proteins / genetics
Genetic Predisposition to Disease
HLA Antigens / genetics
Humans
Interferon Regulatory Factors / genetics
Interferons / genetics
Interleukins / genetics
Lymphocytes
NF-kappa B
Receptors, CXCR5 / genetics
STAT4 Transcription Factor / genetics
Signal Transduction / genetics
Sjogren's Syndrome / genetics*
Tumor Necrosis Factor alpha-Induced Protein 3 / genetics
Vascular Cell Adhesion Molecule-1 / genetics
src-Family Kinases / genetics

Substances

CXCR5 protein, human
DNA-Binding Proteins
HLA Antigens
IL32 protein, human
IRF5 protein, human
Interferon Regulatory Factors
Interleukins
NF-kappa B
Receptors, CXCR5
STAT4 Transcription Factor
STAT4 protein, human
TNIP1 protein, human
Vascular Cell Adhesion Molecule-1
Interferons
BLK protein, human
src-Family Kinases
TNFAIP3 protein, human
Tumor Necrosis Factor alpha-Induced Protein 3