Research focus
Immunogenetics of autoimmune diseases
Our main research focus is to identify genetic variants which predispose to autoimmune diseases. Autoimmune diseases affect about 5% of the population, and result from an attack of the patient’s own immune systems to cells in various tissues. Autoimmune diseases are caused by a combination of genetic and environmental risk factors, and it is clear that some genetic risk factors are shared between different autoimmune diseases. Because of the common immunological and genetic background, we obtain synergy in our research efforts by combining the studies of several autoimmune diseases in the same research environment. The diseases we mainly focus on are juvenile idiopathic arthritis, multiple sclerosis, myasthenia gravis, primary sclerosing cholangitis, rheumatoid arthritis, systemic lupus erythematosus and type 1 diabetes.
The major histocompatibility complex (MHC) is the chromosomal region which contributes the most to the genetic risk of autoimmune diseases. This gene complex comprises a large number of genes encoding proteins with important roles in the immune system; hence the MHC is a “jungle” of good candidate genes for autoimmune diseases. Interestingly, for several autoimmune diseases it is clear that several genes in the MHC is involved in disease predisposition, and one of our research goals are to dissect and pinpoint precisely which MHC genes contribute to disease susceptibility and/or protection. Furthermore, we also aim at identifying genetic risk factors elsewhere in the genome through genome-wide association studies, candidate gene studies, copy number variation screens, etc. The identification of genetic variants involved in disease predisposition and disease progression provides important knowledge for understanding the pathological mechanisms and for development of more specific therapies.
The Immunogenetics research group at the Institute of Immunology also comprises of member the Norwegian Primary Sclerosis Cholangitis Research Center and Oslo Multiple Sclerosis Genetics Group.
Selected publications:
- Eike MC, Becker T, Humphreys K, Olsson M, Lie BA. Conditional analyses on the T1DGC MHC dataset: novel associations with type 1 diabetes around HLA-G and confirmation of HLA-B. Genes Immun. 2008
- Lorentzen AR, Smestad C, Lie BA, Oturai AB, Akesson E, Saarela J, Myhr KM, Vartdal F, Celius EG, Sørensen PS, Hillert J, Spurkland A, Harbo HF. The SH2D2A gene and susceptibility to multiple sclerosis. J Neuroimmunol. 2008;197:152-8.
- Melum E, Karlsen TH, Schrumpf E, Bergquist A, Thorsby E, Boberg KM, Lie BA. Cholangiocarcinoma in primary sclerosing cholangitis is associated with NKG2D polymorphisms. Hepatology. 2008;47:90-6
- Karlsen TH, Boberg KM, Olsson M, Sun JY, Senitzer D, Bergquist A, Schrumpf E, Thorsby E, Lie BA. Particular genetic variants of ligands for natural killer cell receptors may contribute to the HLA associated risk of primary sclerosing cholangitis.
J Hepatol. 2007;46:899-906 - Viken MK, Amundsen SS, Kvien TK, Boberg KM, Gilboe IM, Lilleby V, Sollid LM, Førre OT, Thorsby E, Smerdel A, Lie BA. Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases.
Genes Immun. 2005;6:271-3.
(from http://www.med.uio.no/rh/immi/research/immunogenetics/)
Landscape of cancer genes and mutational processes in breast cancer
May 21, 2012
Latest publications
Benedicte A. Lie
Late Onset Myasthenia Gravis Is Associated with HLA DRB1*15:01 in the Norwegian Population
PLoS One, 7 (5), e36603
PubMed 22590574
Importance of Human Leukocyte Antigen (HLA) Class I and II Alleles on the Risk of Multiple Sclerosis
PLoS One, 7 (5), e36779
PubMed 22586495
An Association Study of Interleukin 18 Receptor Genes (IL18R1 and IL18RAP) in Lumbar Disc Degeneration
Open Orthop J, 6, 164-71
PubMed 22550553




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