Benedicte Alexandra Lie

• Ueland, Marthe; Hajdarevic, Riad; Mella, Olav; Strand, Elin Bolle; Daysi Duarte, Sosa & Saugstad, Ola Didrik [Vis alle 9 forfattere av denne artikkelen] (2022). No replication of previously reported association with genetic variants in the T cell receptor alpha (TRA) locus for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). Translational Psychiatry. ISSN 2158-3188. 12(1). doi: 10.1038/s41398-022-02046-1.
• Saevarsdottir, Saedis; Stefansdottir, Lilja; Sulem, Patrick; Thorleifsson, Gudmar; Ferkingstad, Egil & Rutsdottir, Gudrun [Vis alle 78 forfattere av denne artikkelen] (2022). Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset. Annals of the Rheumatic Diseases. ISSN 0003-4967. 81(8), s. 1085–1095. doi: 10.1136/annrheumdis-2021-221754. Fulltekst i vitenarkiv
• Li, Jin; Li, Yun R.; Glessner, Joseph T.; Yang, Jie; March, Michael E. & Kao, Charlly [Vis alle 28 forfattere av denne artikkelen] (2022). Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis. Arthritis & Rheumatology. ISSN 2326-5191. 74(8), s. 1420–1429. doi: 10.1002/art.42129.
• Harrison, Genelle F.; Leaton, Laura Ann; Harrison, Erica A.; Kichula, Katherine M.; Viken, Marte Kathrine & Shortt, Jonathan [Vis alle 11 forfattere av denne artikkelen] (2022). Allele imputation for the killer cell immunoglobulin-like receptor KIR3DL1/S1. PLoS Computational Biology. ISSN 1553-734X. 18(2). doi: 10.1371/journal.pcbi.1009059.
• Vigeland, Maria Dehli; Flåm, Siri Tennebø; Vigeland, Magnus Dehli; Espeland, Ansgar; Kristoffersen, Per Martin & Vetti, Nils [Vis alle 17 forfattere av denne artikkelen] (2022). Correlation between gene expression and MRI STIR signals in patients with chronic low back pain and Modic changes indicates immune involvement. Scientific Reports. ISSN 2045-2322. 12(1), s. 1–12. doi: 10.1038/s41598-021-04189-5. Fulltekst i vitenarkiv
• Hajdarevic, Riad; Lande, Asgeir; Mehlsen, Jesper; Rydland, Anne; Sosa, Daisy D. & Strand, Elin Bolle [Vis alle 11 forfattere av denne artikkelen] (2022). Genetic association study in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) identifies several potential risk loci. Brain, Behavior, and Immunity. ISSN 0889-1591. 102, s. 362–369. doi: 10.1016/j.bbi.2022.03.010. Fulltekst i vitenarkiv
• Viken, Marte Kathrine; Pedersen, Alice Marie; Andersen, Menaka; Jensen, Tore; Lie, Benedicte Alexandra & Boulland, Line (2021). HLA-B*27 typing using a triplex real time PCR in routine laboratory. HLA. ISSN 2059-2302. 98(4), s. 366–369. doi: 10.1111/tan.14386. Fulltekst i vitenarkiv Vis sammendrag

  We have established an in-house HLA-B*27 multiplex typing assay by using acombination of previously published, newly designed and commercial primersand probes for use with real-time PCR instruments. Hence, facilitating quickand large-scale HLA-B*27 typing.

• Langton, David J.; Bourke, Stephen C.; Lie, Benedicte Alexandra; Reiff, Gabrielle; Natu, Shonali & Darlay, Rebecca [Vis alle 8 forfattere av denne artikkelen] (2021). The influence of HLA genotype on the severity of COVID-19 infection. HLA. ISSN 2059-2302. 98(1), s. 14–22. doi: 10.1111/tan.14284. Fulltekst i vitenarkiv
• Creary, Lisa E.; Gangavarapu, Sridevi; Caillier, Stacy J.; Cavalcante, Paola; Frangiamore, Rita & Lie, Benedicte Alexandra [Vis alle 16 forfattere av denne artikkelen] (2021). Next-Generation Sequencing Identifies Extended HLA Class I and II Haplotypes Associated With Early-Onset and Late-Onset Myasthenia Gravis in Italian, Norwegian, and Swedish Populations. Frontiers in Immunology. ISSN 1664-3224. 12, s. 1–14. doi: 10.3389/fimmu.2021.667336. Fulltekst i vitenarkiv
• Ali, Muhammad; Giannakopoulou, Eirini Chrysovalantou; Li, Yingqian; Lehander, Madeleine; Virding Culleton, Stina & Yang, Weiwen [Vis alle 33 forfattere av denne artikkelen] (2021). T cells targeted to TdT kill leukemic lymphoblasts while sparing normal lymphocytes. Nature Biotechnology. ISSN 1087-0156. doi: 10.1038/s41587-021-01089-x. Fulltekst i vitenarkiv
• Guderud, Kari; Sunde, Line Hagen; Flåm, Siri Tennebø; Mæhlen, Marthe Thoresen; Mjaavatten, Maria Dahl & NORLI, ELLEN SAUAR [Vis alle 13 forfattere av denne artikkelen] (2021). Methotrexate Treatment of Newly Diagnosed RA Patients Is Associated With DNA Methylation Differences at Genes Relevant for Disease Pathogenesis and Pharmacological Action. Frontiers in Immunology. ISSN 1664-3224. 12, s. 1–11. doi: 10.3389/fimmu.2021.713611. Fulltekst i vitenarkiv Vis sammendrag

  Background: Methotrexate (MTX) is the first line treatment of rheumatoid arthritis (RA), and methylation changes in bulk T cells have been reported after treatment with MTX. We have investigated cell-type specific DNA methylation changes across the genome in naïve and memory CD4+ T cells before and after MTX treatment of RA patients. DNA methylation profiles of newly diagnosed RA patients (N=9) were assessed by reduced representation bisulfite sequencing. Results: We found that MTX treatment significantly influenced DNA methylation levels at multiple CpG sites in both cell populations. Interestingly, we identified differentially methylated sites annotated to two genes; TRIM15 and SORC2, previously reported to predict treatment outcome in RA patients when measured in bulk T cells. Furthermore, several of the genes, including STAT3, annotated to the significant CpG sites are relevant for RA susceptibility or the action of MTX. Conclusion: We detected CpG sites that were associated with MTX treatment in CD4+ naïve and memory T cells isolated from RA patients. Several of these sites overlap genetic regions previously associated with RA risk and MTX treatment outcome.

• Viste, Rannveig; Viken, Marte Kathrine; Lie, Benedicte Alexandra; Juvodden, Hilde Therese; Nordstrand, Sebjørg E. H. & Thorsby, Per M. [Vis alle 9 forfattere av denne artikkelen] (2021). High nocturnal sleep fragmentation is associated with low T lymphocyte P2Y<inf>11</inf>protein levels in narcolepsy type 1. Sleep. ISSN 0161-8105. 44(8), s. 1–12. doi: 10.1093/sleep/zsab062. Fulltekst i vitenarkiv
• Viste, Rannveig; Lie, Benedicte Alexandra; Viken, Marte Kathrine; Rootwelt, Terje; Knudsen-Heier, Stine & Kornum, Birgitte Rahbek (2021). Narcolepsy type 1 patients have lower levels of effector memory CD4+ T cells compared to their siblings when controlling for H1N1-(Pandemrix™)-vaccination and HLA DQB1∗06:02 status. Sleep Medicine. ISSN 1389-9457. 85, s. 271–279. doi: 10.1016/j.sleep.2021.07.024. Fulltekst i vitenarkiv
• Hajdarevic, Riad; Lande, Asgeir; Rekeland, Ingrid Gurvin; Rydland, Anne; Strand, Elin Bolle & Sosa , Daysi Duarte [Vis alle 13 forfattere av denne artikkelen] (2021). Fine mapping of the major histocompatibility complex (MHC) in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) suggests involvement of both HLA class I and class II loci. Brain, Behavior, and Immunity. ISSN 0889-1591. 98, s. 101–109. doi: 10.1016/j.bbi.2021.08.219. Fulltekst i vitenarkiv
• Gansmo, Liv Beathe; Lie, Benedicte Alexandra; Mæhlen, Marthe Thoresen; Vatten, Lars Johan; Romundstad, Pål Richard & Hveem, Kristian [Vis alle 8 forfattere av denne artikkelen] (2021). Polymorphisms in the TP53-MDM2-MDM4-axis in patients with rheumatoid arthritis. Gene. ISSN 0378-1119. 793. doi: 10.1016/j.gene.2021.145747. Fulltekst i vitenarkiv
• Heinicke, Fatima; Zhong, Xiangfu; Flåm, Siri Tennebø; Breidenbach, Johannes; Leithaug, Magnus & Mæhlen, Marthe Thoresen [Vis alle 14 forfattere av denne artikkelen] (2021). MicroRNA Expression Differences in Blood-Derived CD19+ B Cells of Methotrexate Treated Rheumatoid Arthritis Patients. Frontiers in Immunology. ISSN 1664-3224. 12. doi: 10.3389/fimmu.2021.663736. Fulltekst i vitenarkiv
• Sandling, Johanna K.; Pucholt, Pascal; Hultin Rosenberg, Lina; Farias, Fabiana H.G.; Kozyrev, Sergey V. & Eloranta, Maija-Leena [Vis alle 32 forfattere av denne artikkelen] (2021). Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing. Annals of the Rheumatic Diseases. ISSN 0003-4967. 80, s. 109–117. doi: 10.1136/annrheumdis-2020-218636. Fulltekst i vitenarkiv
• Helgeland, Hanna; Gabrielsen, Ingvild Synnøve Matre; Akselsen, Helle; Meenakshi Sundaram, Arvind Yegambaram; Flåm, Siri Tennebø & Lie, Benedicte Alexandra (2020). Transcriptome profiling of human thymic CD4+ and CD8+ T cells compared to primary peripheral T cells. BMC Genomics. ISSN 1471-2164. 21(350). doi: 10.1186/s12864-020-6755-1. Fulltekst i vitenarkiv
• Juvodden, Hilde Therese; Viken, Marte Kathrine; Nordstrand, Sebjørg Elizabeth Hesla; Viste, Rannveig; Westlye, Lars Tjelta & Thorsby, Per Medbøe [Vis alle 8 forfattere av denne artikkelen] (2020). HLA and sleep parameter associations in post-H1N1 narcolepsy type 1 patients and first-degree relatives. Sleep. ISSN 0161-8105. 43(3), s. 1–11. doi: 10.1093/sleep/zsz239. Fulltekst i vitenarkiv
• Heinicke, Fatima; Zhong, Xiangfu; Zucknick, Karola Manuela; Breidenbach, Johannes; Sundaram, Arvind Yegambaram Meenakshi & Flåm, Siri Tennebø [Vis alle 11 forfattere av denne artikkelen] (2020). An extension to: Systematic assessment of commercially available low-input miRNA library preparation kits. RNA Biology. ISSN 1547-6286. 17(9), s. 1284–1292. doi: 10.1080/15476286.2020.1761081. Fulltekst i vitenarkiv
• Gjefsen, Elisabeth; Bråten, Lars Christian Haugli; Goll, Guro Løvik; Wigemyr, Monica; Bolstad, Nils & Valberg, Morten [Vis alle 27 forfattere av denne artikkelen] (2020). The effect of infliximab in patients with chronic low back pain and Modic changes (the BackToBasic study): study protocol of a randomized, double blind, placebo-controlled, multicenter trial. BMC Musculoskeletal Disorders. ISSN 1471-2474. 21:698, s. 1–14. doi: 10.1186/s12891-020-03720-5. Fulltekst i vitenarkiv
• Rekeland, Ingrid Gurvin; Fosså, Alexander; Lande, Asgeir; Ktoridou-Valen, Irini; Sørland, Kari & Holsen, Mari Helgesen [Vis alle 14 forfattere av denne artikkelen] (2020). Intravenous Cyclophosphamide in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome. An Open-Label Phase II Study. Frontiers in medicine. ISSN 2296-858X. 7:162, s. 1–15. doi: 10.3389/fmed.2020.00162. Fulltekst i vitenarkiv
• Tapia, German; Mortimer, Georgina; Ye, Jody; Mårild, Karl Staffan; Chipper-Keating, Saranna & Gillard, Benjamin Thomas [Vis alle 11 forfattere av denne artikkelen] (2020). Maternal microchimerism in cord blood and risk of celiac disease in childhood. Journal of Pediatric Gastroenterology and Nutrition - JPGN. ISSN 0277-2116. 71(3), s. 321–327. doi: 10.1097/MPG.0000000000002811. Fulltekst i vitenarkiv
• Guderud, Kari; Sunde, Line Hagen; Flåm, Siri Tennebø; Mæhlen, Marthe Thoresen; Mjaavatten, Maria Dahl & Lillegraven, Siri [Vis alle 16 forfattere av denne artikkelen] (2020). Rheumatoid Arthritis Patients, Both Newly Diagnosed and Methotrexate Treated, Show More DNA Methylation Differences in CD4+ Memory Than in CD4+ Naïve T Cells. Frontiers in Immunology. ISSN 1664-3224. 11:194, s. 1–14. doi: 10.3389/fimmu.2020.00194. Fulltekst i vitenarkiv
• Lande, Asgeir; Fluge, Øystein; Strand, Elin Bolle; Flåm, Siri Tennebø; Daysi Duarte, Sosa & Mella, Olav [Vis alle 10 forfattere av denne artikkelen] (2020). Human Leukocyte Antigen Alleles Associated With Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS). Scientific Reports. ISSN 2045-2322. 10:5267(1), s. 1–8. doi: 10.1038/s41598-020-62157-x. Fulltekst i vitenarkiv
• Zhong, Xiangfu; Heinicke, Fatima; Lie, Benedicte Alexandra & Rayner, Simon (2019). Accurate Adapter Information Is Crucial for Reproducibility and Reusability in Small RNA Seq Studies. Non-coding RNA. ISSN 2311-553X. doi: 10.3390/ncrna5040049. Fulltekst i vitenarkiv
• López-Isac, Elena; Acosta-Herrera, Marialbert; Kerick, Martin; Assassi, Shervin; Satpathy, Ansuman T. & Granja, Jeffrey [Vis alle 42 forfattere av denne artikkelen] (2019). GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. Nature Communications. ISSN 2041-1723. 10:4955, s. 1–14. doi: 10.1038/s41467-019-12760-y. Fulltekst i vitenarkiv
• Heinicke, Fatima; Zhong, Xiangfu; Zucknick, Manuela; Breidenbach, Johannes; Sundaram, Arvind Yegambaram Meenakshi & Flåm, Siri Tennebø [Vis alle 21 forfattere av denne artikkelen] (2019). Systematic assessment of commercially available low-input miRNA library preparation kits. RNA Biology. ISSN 1547-6286. 17(1), s. 75–86. doi: 10.1080/15476286.2019.1667741. Fulltekst i vitenarkiv
• Bråten, Lars Christian Haugli; Rolfsen, Mads Peder; Espeland, Ansgar; Wigemyr, Monica; Assmus, Jörg & Froholdt, Anne [Vis alle 28 forfattere av denne artikkelen] (2019). Efficacy of antibiotic treatment in patients with chronic low back pain and Modic changes (the AIM study): double blind, randomised, placebo controlled, multicentre trial. The BMJ. ISSN 1756-1833. 367. doi: 10.1136/bmj.l5654. Fulltekst i vitenarkiv Vis sammendrag

  Objective To assess the efficacy of three months of antibiotic treatment compared with placebo in patients with chronic low back pain, previous disc herniation, and vertebral endplate changes (Modic changes). Design Double blind, parallel group, placebo controlled, multicentre trial. Setting Hospital outpatient clinics at six hospitals in Norway. Participants 180 patients with chronic low back pain, previous disc herniation, and type 1 (n=118) or type 2 (n=62) Modic changes enrolled from June 2015 to September 2017. Interventions Patients were randomised to three months of oral treatment with either 750 mg amoxicillin or placebo three times daily. The allocation sequence was concealed by using a computer generated number on the prescription. Main outcome measures The primary outcome was the Roland-Morris Disability Questionnaire (RMDQ) score (range 0-24) at one year follow-up in the intention to treat population. The minimal clinically important between group difference in mean RMDQ score was predefined as 4. Results In the primary analysis of the total cohort at one year, the difference in the mean RMDQ score between the amoxicillin group and the placebo group was −1.6 (95% confidence interval −3.1 to 0.0, P=0.04). In the secondary analysis, the difference in the mean RMDQ score between the groups was −2.3 (−4.2 to−0.4, P=0.02) for patients with type 1 Modic changes and −0.1 (−2.7 to 2.6, P=0.95) for patients with type 2 Modic changes. Fifty patients (56%) in the amoxicillin group experienced at least one drug related adverse event compared with 31 (34%) in the placebo group. Conclusions In this study on patients with chronic low back pain and Modic changes at the level of a previous disc herniation, three months of treatment with amoxicillin did not provide a clinically important benefit compared with placebo. Secondary analyses and sensitivity analyses supported this finding. Therefore, our results do not support the use of antibiotic treatment for chronic low back pain and Modic changes.

• Kjeldsen-Kragh, Jens; Titze, Thomas Larsen; Lie, Benedicte Alexandra; Vaage, John T. & Kjær, Mette (2019). HLA-DRB3*01:01 exhibits a dose-dependent impact on HPA-1a antibody levels in HPA-1a-immunized women. Blood Advances. ISSN 2473-9529. 3(7), s. 945–951. doi: 10.1182/bloodadvances.2019032227. Fulltekst i vitenarkiv
• Gabrielsen, Ingvild Synnøve Matre; Helgeland, Hanna; Akselsen, Helle; Aass, Hans Christian Dalsbotten; Meenakshi Sundaram, Arvind Yegambaram & Snowhite, Isaac V. [Vis alle 9 forfattere av denne artikkelen] (2019). Transcriptomes of antigen presenting cells in human thymus. PLOS ONE. ISSN 1932-6203. 14:e0218858(7), s. 1–18. doi: 10.1371/journal.pone.0218858. Fulltekst i vitenarkiv
• Tapia, German; Mortimer, Georgina; Ye, Jody; Gillard, Benjamin Thomas; Chipper-Keating, Saranna & Mårild, Karl Staffan [Vis alle 14 forfattere av denne artikkelen] (2019). Maternal microchimerism in cord blood and risk of childhood-onset type 1 diabetes. Pediatric Diabetes. ISSN 1399-543X. 20(6), s. 728–735. doi: 10.1111/pedi.12875. Fulltekst i vitenarkiv
• Tapia, German; Mårild, Karl Staffan; Dahl, Sandra Rinne; Lund-Blix, Nicolai Andre; Viken, Marte K & Lie, Benedicte Alexandra [Vis alle 12 forfattere av denne artikkelen] (2019). Maternal and Newborn Vitamin D-Binding Protein, Vitamin D Levels, Vitamin D Receptor Genotype, and Childhood Type 1 Diabetes. Diabetes Care. ISSN 0149-5992. 42(4), s. 553–559. doi: 10.2337/dc18-2176. Fulltekst i vitenarkiv
• Mitrovic, Mitja; Patsopoulos, Nikolaos A.; Beecham, Ashley H.; Dankowski, Theresa; Goris, An & Dubois, Benedicte [Vis alle 52 forfattere av denne artikkelen] (2018). Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk. Cell. ISSN 0092-8674. 175(6), s. 1679–1687. doi: 10.1016/j.cell.2018.09.049. Fulltekst i vitenarkiv
• Guderud, Kari; Mæhlen, Marthe Thoresen; Namløs, Gry Beate; Viken, Marte K; Kulle, Bettina & Molberg, Øyvind [Vis alle 8 forfattere av denne artikkelen] (2018). Lack of association among peptidyl arginine deiminase type 4 autoantibodies, PADI4 polymorphisms, and clinical characteristics in rheumatoid arthritis. Journal of Rheumatology. ISSN 0315-162X. 45(9), s. 1211–1219. doi: 10.3899/jrheum.170769.
• Lande, Asgeir; Andersen, Irene; Egeland, Torstein; Lie, Benedicte Alexandra & Viken, Marte K (2018). HLA -A, -C, -B, -DRB1, -DQB1 and -DPB1 allele and haplotype frequencies in 4514 healthy Norwegians. Human Immunology. ISSN 0198-8859. 79(7), s. 527–529. doi: 10.1016/j.humimm.2018.04.012.
• Størdal, Ketil; McArdle, Harry J.; Hayes, Helen; Tapia, German; Viken, Marte K & Lund-Blix, Nicolai Andre [Vis alle 17 forfattere av denne artikkelen] (2018). Prenatal iron exposure and childhood type 1 diabetes. Scientific Reports. ISSN 2045-2322. 8. doi: 10.1038/s41598-018-27391-4. Fulltekst i vitenarkiv
• Henriksen, Eva Kristine Klemsdal; Viken, Marte K; Wittig, Michael; Holm, Kristian; Folseraas, Trine & Mucha, Sören [Vis alle 29 forfattere av denne artikkelen] (2017). HLA haplotypes in primary sclerosing cholangitis patients of admixed and non-European ancestry. HLA. ISSN 2059-2302. 90(4), s. 228–233. doi: 10.1111/tan.13076.
• Viken, Marte K; Flåm, Siri Tennebø; Skrivarhaug, Torild; Amundsen, Silja Svanstrøm; Sollid, Ludvig Magne & Drivvoll, Ann Kristin [Vis alle 9 forfattere av denne artikkelen] (2017). HLA class II alleles in Norwegian patients with coexisting type 1 diabetes and celiac disease. HLA. ISSN 2059-2302. 89(5), s. 278–284. doi: 10.1111/tan.12986.
• Popperud, Trine Haug; Viken, Marte K; Kerty, Emilia & Lie, Benedicte Alexandra (2017). Juvenile myasthenia gravis in Norway: HLA-DRB1*04:04 is positively associated with prepubertal onset. PLOS ONE. ISSN 1932-6203. 12:e0186383(10), s. 1–9. doi: 10.1371/journal.pone.0186383.
• Størdal, Ketil; Mårild, Karl; Tapia, German; Haugen, Margaretha; Cohen, Arieh S & Lie, Benedicte Alexandra [Vis alle 7 forfattere av denne artikkelen] (2017). Fetal and maternal genetic variants influencing neonatal vitamin D status. Journal of Clinical Endocrinology and Metabolism (JCEM). ISSN 0021-972X. 102(11), s. 4072–4079. doi: 10.1210/jc.2017-00827.
• Witoelar, Aree; Jansen, Iris E.; Wang, Yunpeng; Desikan, Rahul S.; Gibbs, J. Raphael & Thompson, Wesley Kurt [Vis alle 26 forfattere av denne artikkelen] (2017). Genome-wide pleiotropy between Parkinson disease and autoimmune diseases. JAMA Neurology. ISSN 2168-6149. 74(7), s. 780–792. doi: 10.1001/jamaneurol.2017.0469.
• Mårild, Karl; Tapia, German; Haugen, Margaretha; Dahl, Sandra Rinne; Cohen, Arieh S. & Lundqvist, Marika [Vis alle 9 forfattere av denne artikkelen] (2017). Maternal and neonatal vitamin D status, genotype and childhood celiac disease. PLOS ONE. ISSN 1932-6203. 12(7). doi: 10.1371/journal.pone.0179080. Fulltekst i vitenarkiv
• Hov, Johannes Espolin Roksund; Boberg, Kirsten Muri; Taraldsrud, Eli; Vesterhus, Mette; Boyadzhieva, Maria & Solberg, Inger Camilla [Vis alle 11 forfattere av denne artikkelen] (2017). Antineutrophil antibodies define clinical and genetic subgroups in primary sclerosing cholangitis. Liver international (Print). ISSN 1478-3223. 37(3), s. 458–465. doi: 10.1111/liv.13238.
• Carmona, David; Vaglio, Augusto; Mackie, Sarah L; Hernández-Rodríguez, José; Monarch, Paul A & Castaneda, Santos [Vis alle 46 forfattere av denne artikkelen] (2016). A genome-wide association study identifies risk alleles in plasminogen and P4HA2 associated with giant cell arteritis. American Journal of Human Genetics. ISSN 0002-9297. 100(1), s. 64–74. doi: 10.1016/j.ajhg.2016.11.013.
• Finkel, Terri H.; Li, Jin; Wei, Zhi; Wang, Wei; Zhang, Haitao & Behrens, Edward M. [Vis alle 33 forfattere av denne artikkelen] (2016). Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility. BMC Medical Genetics. ISSN 1471-2350. 17(1). doi: 10.1186/s12881-016-0285-3.
• Gustavsen, Marte Wendel; Celius, Elisabeth Gulowsen; Winsvold, Bendik K S; Moen, Stine Marit; Nygaard, Gro Owren & Berg-Hansen, Pål [Vis alle 9 forfattere av denne artikkelen] (2016). Migraine and frequent tension-type headache are not associated with multiple sclerosis in a Norwegian case-control study. Multiple Sclerosis Journal, Experimental, Translational and Clinical. ISSN 2055-2173. 2, s. 1–4. doi: 10.1177/2055217316682976. Fulltekst i vitenarkiv
• Gabrielsen, Ingvild; Viken, Marte K; Amundsen, Svanstrøm Silja; Helgeland, Hanna; Holm, Kristian & Flåm, Siri Tennebø [Vis alle 7 forfattere av denne artikkelen] (2016). Autoimmune risk variants in ERAP2 are associated with gene-expression levels in thymus. Genes and Immunity. ISSN 1466-4879. 17(7), s. 406–411. doi: 10.1038/gene.2016.39.
• Gabrielsen, Ingvild; Amundsen, Svanstrøm Silja; Helgeland, Hanna; Flåm, Siri Tennebø; Hatinoor, Nimo & Holm, Kristian [Vis alle 8 forfattere av denne artikkelen] (2016). Genetic risk variants for autoimmune diseases that influence gene expression in thymus. Human Molecular Genetics. ISSN 0964-6906. 25(14), s. 3117–3124. doi: 10.1093/hmg/ddw152. Vis sammendrag

  Genome-wide association studies (GWAS) have boosted our knowledge of genetic risk variants in autoimmune diseases (AIDs). Most risk variants are located within or near genes with immunological functions, and the majority is found to be non-coding, pointing towards a regulatory role. In this study, we performed a cis expression quantitative trait locus (eQTL) screen restricted to 353 AID associated risk variants selected from the GWAS catalog to investigate whether these single nucleotide polymorphisms (SNPs) influence gene expression in thymus. Genotypes were obtained by Immunochip (Ichip) and tested against expression of surrounding genes (±1 Mb) in human thymic tissue (n = 42). We identified eight significant eQTLs located within seven genetic regions (FCRL3, RNASET2, C2orf74, NPIPB8, SIRPG, SYS1 and AJ006998.2) where the expression was associated with AID risk SNPs at a study-wide level of significance (P < 2.7 × 10-5). In NPIPB8 and AJ006998.2, the eQTL signals appeared to be thymus-specific. Furthermore, many AID risk SNPs from GWAS have been subsequently fine-mapped in recent Ichip projects, and fine-mapped AID SNPs overlapped with the thymic eQTLs within RNASET2 and SIRPG Finally, in all the eQTL regions, except C2orf74, SNPs underlying the thymic eQTLs were predicted to interfere with transcription factors important in T cell development. Our study therefore reveals autoimmune risk variants that act as eQTLs in thymus, and suggest that thymic gene regulation may play a functional role at some AID risk loci.

• Dominguez Valentin, Mev; Gras Navarro, Andrea; Rahman, Mohummad Aminur; Kumar, Surendra; Retière, Christèle & Ulvestad, Elling [Vis alle 14 forfattere av denne artikkelen] (2016). Identification of a natural killer cell receptor allele that prolongs survival of cytomegalovirus-positive glioblastoma patients. Cancer Research. ISSN 0008-5472. 76(18), s. 5326–5336. doi: 10.1158/0008-5472.CAN-16-1162.
• Wang, Yunpeng; Bos, Steffan Daniel; Harbo, Hanne Flinstad; Thompson, Wesley K.; Schork, Andrew J. & Bettella, Francesco [Vis alle 14 forfattere av denne artikkelen] (2016). Genetic overlap between multiple sclerosis and several cardiovascular disease risk factors. Multiple Sclerosis. ISSN 1352-4585. 22(14), s. 1783–1793. doi: 10.1177/1352458516635873.
• Seldin, Michael F.; Alkhairy, Omar K; Lee, Annette T.; Lamb, Janine; Sussman, Jon & Pirskanen-Matell, Ritva [Vis alle 19 forfattere av denne artikkelen] (2015). Genome-wide association study of late-onset myasthenia gravis: Confirmation of TNFRSF11A and identification of ZBTB10 and three distinct HLA associations. Molecular medicine (Cambridge, Mass. Print). ISSN 1076-1551. 21, s. 769–781. doi: 10.2119/molmed.2015.00232. Vis sammendrag

  To investigate the genetics of late-onset myasthenia gravis (LOMG), we conducted a genome-wide association study imputation of >6 million single nucleotide polymorphisms (SNPs) in 532 LOMG cases (anti–acetylcholine receptor [AChR] antibody positive; onset age ≥50 years) and 2,128 controls matched for sex and population substructure. The data confirm reported TNFRSF11A associations (rs4574025, P = 3.9 × 10–7, odds ratio [OR] 1.42) and identify a novel candidate gene, ZBTB10, achieving genome-wide significance (rs6998967, P = 8.9 × 10–10, OR 0.53). Several other SNPs showed suggestive significance including rs2476601 (P = 6.5 × 10–6, OR 1.62) encoding the PTPN22 R620W variant noted in early-onset myasthenia gravis (EOMG) and other autoimmune diseases. In contrast, EOMG-associated SNPs in TNIP1 showed no association in LOMG, nor did other loci suggested for EOMG. Many SNPs within the major histocompatibility complex (MHC) region showed strong associations in LOMG, but with smaller effect sizes than in EOMG (highest OR ~2 versus ~6 in EOMG). Moreover, the strongest associations were in opposite directions from EOMG, including an OR of 0.54 for DQA1*05:01 in LOMG (P = 5.9 × 10–12) versus 2.82 in EOMG (P = 3.86 × 10–45). Association and conditioning studies for the MHC region showed three distinct and largely independent association peaks for LOMG corresponding to (a) MHC class II (highest attenuation when conditioning on DQA1), (b) HLA-A and (c) MHC class III SNPs. Conditioning studies of human leukocyte antigen (HLA) amino acid residues also suggest potential functional correlates. Together, these findings emphasize the value of subgrouping myasthenia gravis patients for clinical and basic investigations and imply distinct predisposing mechanisms in LOMG.

• Chiaroni-Clarke, Rachel C.; Li, Yun R.; Munro, Jane E.; Chavez, Raul A.; Scurrah, Katrina J. & Pezic, Angela [Vis alle 21 forfattere av denne artikkelen] (2015). The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females. Genes and Immunity. ISSN 1466-4879. 16(7), s. 495–498. doi: 10.1038/gene.2015.32.
• Li, Yun R.; Li, Jin; Zhao, Sihai D.; Bradfield, Jonathan P.; Mentch, Frank D. & Maggadóttir, Sólrún Melkorka [Vis alle 66 forfattere av denne artikkelen] (2015). Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. Nature Medicine. ISSN 1078-8956. 21(9), s. 1018–1027. doi: 10.1038/nm.3933.
• Li, Yun R.; Zhao, Sihai D.; Li, Jin; Bradfield, Jonathan P.; Mohebnasab, Maede & Steel, Laura [Vis alle 63 forfattere av denne artikkelen] (2015). Genetic sharing and heritability of paediatric age of onset autoimmune diseases. Nature Communications. ISSN 2041-1723. 6:8442. doi: 10.1038/ncomms9442.
• Flåm, Siri Tennebø; Gunnarsson, Ragnar; Garen, Torhild Oddveig; Lie, Benedicte Alexandra & Molberg, Øyvind (2015). The HLA profiles of mixed connective tissue disease differ distinctly from the profiles of clinically related connective tissue diseases. Rheumatology. ISSN 1462-0324. 54(3), s. 528–535. doi: 10.1093/rheumatology/keu310.
• Hov, Johannes Espolin Roksund; Zhong, Huanzi; Qin, Bincai; Anmarkrud, Jarl Andreas; Holm, Kristian & Franke, Andre [Vis alle 8 forfattere av denne artikkelen] (2015). The influence of the autoimmunity-associated ancestral HLA haplotype AH8.1 on the human gut microbiota: A cross-sectional study. PLOS ONE. ISSN 1932-6203. 10:e0133804(7). doi: 10.1371/journal.pone.0133804.
• Cortes, Adrian; Pulit, Sara L.; Leo, Paul J.; Pointon, Jenny J.; Robinson, Philip C. & Weisman, Michael H. [Vis alle 48 forfattere av denne artikkelen] (2015). Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1. Nature Communications. ISSN 2041-1723. 6. doi: 10.1038/ncomms8146.
• Bossini-Castillo, Lara; de Kovel, Carolien G.F.; Källberg, Henrik; van't Slot, Ruben; Italiaander, Annet & Coenen, Marieke J.H. [Vis alle 36 forfattere av denne artikkelen] (2015). A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides. Annals of the Rheumatic Diseases. ISSN 0003-4967. 74(e15). doi: 10.1136/annrheumdis-2013-204591.
• Omair, Ahmad; Mannion, Anne F.; Holden, Marit; Fairbank, Jeremy; Lie, Benedicte Alexandra & Hägg, Olle [Vis alle 8 forfattere av denne artikkelen] (2015). Catechol-O-methyltransferase (COMT) gene polymorphisms are associated with baseline disability but not long-term treatment outcome in patients with chronic low back pain. European spine journal. ISSN 0940-6719. 24(11), s. 2425–2431. doi: 10.1007/s00586-015-3866-5. Vis sammendrag

  Purpose: To examine the association between COMT and OPRM1 gene polymorphisms and pain and disability at baseline and long-term follow-up in patients treated for chronic low back pain (LBP). Methods: 371 of 767 unrelated European patients recruited from four randomised trials underwent genetic analyses at mean 11.4 years follow-up. 274 patients had fusion and 97 had non-operative treatment. Association analyses included disability, pain, five single nucleotide polymorphisms (SNPs) in the COMT gene, and one SNP in the OPRM1 gene. Analyses were adjusted for age, gender, smoking, analgesics and treatment. Results: Disability at baseline was significantly associated with COMT SNPs rs4818 (p = 0.02), rs6269 (p = 0.007), rs4633 (p = 0.04) rs2075507 (p = 0.009), two haplotypes (p < 0.002), age, gender and smoking (p ≤ 0.002). No significant associations with clinical variables were observed for OPRM1, or for COMT at long-term follow-up. Conclusions: Results suggest that genetic factors are partly responsible for the variation in disability levels in patients presenting with chronic LBP being considered for surgery; in contrast, genetics has no influence on the long-term outcome of treatment.

• Andreassen, Ole Andreas; Desikan, Rahul S.; Wang, Yunpeng; Thompson, Wesley K.; Schork, Andrew J. & Zuber, Verena [Vis alle 18 forfattere av denne artikkelen] (2015). Abundant genetic overlap between blood lipids and immune-mediated diseases indicates shared molecular genetic mechanisms. PLOS ONE. ISSN 1932-6203. 10:e 0123057(4). doi: 10.1371/journal.pone.0123057. Fulltekst i vitenarkiv
• Ellis, Justine A.; Scurrah, Katrina J.; Li, Yun R.; Ponsonby, Anne-Louise; Chavez, Raul A. & Pezic, Angela [Vis alle 19 forfattere av denne artikkelen] (2015). Epistasis amongst PTPN2 and genes of the vitamin D pathway contributes to risk of juvenile idiopathic arthritis. Journal of Steroid Biochemistry and Molecular Biology. ISSN 0960-0760. 145, s. 113–120. doi: 10.1016/j.jsbmb.2014.10.012.
• Andreassen, Ole Andreas; Harbo, Hanne Flinstad; Wang, Yunpeng; Thompson, WK; Schork, AJ & Mattingsdal, Morten [Vis alle 18 forfattere av denne artikkelen] (2015). Genetic pleiotropy between multiple sclerosis and schizophrenia but not bipolar disorder: differential involvement of immune-related gene loci. Molecular Psychiatry. ISSN 1359-4184. 20(2), s. 207–214. doi: 10.1038/mp.2013.195. Fulltekst i vitenarkiv
• Mæhlen, Marthe Thoresen; Olsen, Inge Christoffer; Kulle Andreassen, Bettina; Viken, Marte K; Jiang, Xia & Alfredsson, Lars [Vis alle 22 forfattere av denne artikkelen] (2015). Genetic risk scores and number of autoantibodies in patients with rheumatoid arthritis. Annals of the Rheumatic Diseases. ISSN 0003-4967. 74(4), s. 762–768. doi: 10.1136/annrheumdis-2013-204173.
• Avidan, Nili; Panse, Rozen Le; Harbo, Hanne Flinstad; Bernasconi, Pia; Poulas, Konstantinos & Ginzburg, Elizabeta [Vis alle 28 forfattere av denne artikkelen] (2014). VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis. Annals of clinical and translational neurology. ISSN 2328-9503. 1(5), s. 329–339. doi: 10.1002/acn3.51.
• Amundsen, Svanstrøm Silja; Viken, Marte K; Sollid, Ludvig Magne & Lie, Benedicte Alexandra (2014). Coeliac disease-associated polymorphisms influence thymic gene expression. Genes and Immunity. ISSN 1466-4879. 15(6), s. 355–360. doi: 10.1038/gene.2014.26.
• Tinholt, Mari; Viken, Marte K; Dahm, Anders Erik A; Vollan, Hans Kristian Moen; Sahlberg, Kristine Kleivi & Garred, Øystein [Vis alle 16 forfattere av denne artikkelen] (2014). Increased coagulation activity and genetic polymorphisms in the F5, F10 and EPCR genes are associated with breast cancer: a case-control study. BMC Cancer. ISSN 1471-2407. 14. doi: 10.1186/1471-2407-14-845.
• Næss, Sigrid; Lie, Benedicte Alexandra; Melum, Espen; Olsson, Marita; Hov, Johannes Espolin Roksund & Croucher, PJP [Vis alle 15 forfattere av denne artikkelen] (2014). Refinement of the MHC risk map in a Scandinavian primary sclerosing cholangitis population. PLOS ONE. ISSN 1932-6203. 9:e0114486(12). doi: 10.1371/journal.pone.0114486.
• Moreno-Mayar, J. Victor; Rasmussen, Simon; Seguin-Orlando, Andaine; Rasmussen, Morten; Liang, Mason & Flåm, Siri Tennebø [Vis alle 12 forfattere av denne artikkelen] (2014). Genome-wide ancestry patterns in rapanui suggest pre-european admixture with native americans. Current Biology. ISSN 0960-9822. 24(21), s. 2518–2525. doi: 10.1016/j.cub.2014.09.057.
• Gustavsen, Marte Wendel; Page, Christian; Moen, Stine Marit; Bjølgerud, Anja; Berg-Hansen, Pål & Nygaard, Gro Owren [Vis alle 10 forfattere av denne artikkelen] (2014). Environmental exposures and the risk of multiple sclerosis investigated in a Norwegian case-control study. BMC Neurology. ISSN 1471-2377. 14(1). doi: 10.1186/s12883-014-0196-x. Fulltekst i vitenarkiv
• Gustavsen, Marte Wendel; Viken, Marte K; Celius, Elisabeth Gulowsen; Berge, Tone; Mero, Inger-Lise & Berg-Hansen, Pål [Vis alle 17 forfattere av denne artikkelen] (2014). Oligoclonal band phenotypes in MS differ in their HLA class II association, while specific KIR ligands at HLA class I show association to MS in general. Journal of Neuroimmunology. ISSN 0165-5728. 274(1-2), s. 174–179. doi: 10.1016/j.jneuroim.2014.06.024.
• Næss, Sigrid; Björnsson, Einar; Anmarkrud, Jarl Andreas; Al Mamari, Said; Juran, Brian D. & Lazaridis, Konstantinos N. [Vis alle 15 forfattere av denne artikkelen] (2014). Small duct primary sclerosing cholangitis without inflammatory bowel disease is genetically different from large duct disease. Liver international (Print). ISSN 1478-3223. 34(10), s. 1488–1495. doi: 10.1111/liv.12492.
• Andersen, Ina Marie Riise; Tengesdal, Guro; Lie, Benedicte Alexandra; Boberg, Kirsten Muri; Karlsen, Tom Hemming & Hov, Johannes Espolin Roksund (2014). Effects of Coffee Consumption, Smoking, and Hormones on Risk for Primary Sclerosing Cholangitis. Clinical Gastroenterology and Hepatology. ISSN 1542-3565. 12(6), s. 1019–1028. doi: 10.1016/j.cgh.2013.09.024.
• Elbarbary, Nancy S.; Tjora, Erling; Molnes, Janne; Lie, Benedicte Alexandra; Habib, Mohammad A. & Salem, Mona A. [Vis alle 7 forfattere av denne artikkelen] (2013). An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis. Pediatric Diabetes. ISSN 1399-543X. 14(6), s. 466–472. doi: 10.1111/j.1399-5448.2012.00925.x.
• Leikfoss, Ingvild Sørum; Mero, Inger-Lise; Dahle, Maria Krudtaa; Lie, Benedicte Alexandra; Harbo, Hanne Flinstad & Spurkland, Anne [Vis alle 7 forfattere av denne artikkelen] (2013). Multiple sclerosis-associated single-nucleotide polymorphisms in CLEC16A correlate with reduced SOCS1 and DEXI expression in the thymus. Genes and Immunity. ISSN 1466-4879. 14(1), s. 62–66. doi: 10.1038/gene.2012.52.
• Teruel, Maria; McKinney, Cushla; Balsa, Alejandro; Pascual-Salcedo, Dora; Rodríguez-Rodríguez, Luis & Ortiz, Ana M. [Vis alle 13 forfattere av denne artikkelen] (2013). Association of CD247 polymorphisms with rheumatoid athritis: a replication study and a meta-analysis. PLOS ONE. ISSN 1932-6203. 8(7:e68295). doi: 10.1371/journal.pone.0068295.
• Serrano, A.; Márquez, Arturo; Mackie, SL; Carmona, Francisco David; Solans, R. & Miranda-Filloy, JA [Vis alle 31 forfattere av denne artikkelen] (2013). Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis. Annals of the Rheumatic Diseases. ISSN 0003-4967. 72(11), s. 1882–1886. doi: 10.1136/annrheumdis-2013-203641.
• Namløs Nordang, Gry Beate; Flåm, Siri Tennebø; Mæhlen, Marthe Thoresen; Kvien, Tore Kristian; Viken, Marte K & Lie, Benedicte Alexandra (2013). HLA-C alleles confer risk for anti-citrullinated peptide antibody-positive rheumatoid arthritis independent of HLA-DRB1 alleles. Rheumatology. ISSN 1462-0324. 52(11), s. 1973–1982. doi: 10.1093/rheumatology/ket252.
• Beecham, Ashley H.; Patsopoulos, NA; Xifara, DK; Davis, MF; Kemppinen, A & Cotsapas, C [Vis alle 193 forfattere av denne artikkelen] (2013). Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nature Genetics. ISSN 1061-4036. 45(11), s. 1353–1360. doi: 10.1038/ng.2770.
• Cortes, Adrian; Hadler, Johanna; Pointon, JP; Robinson, Philip; Karaderi, Kudce & Leo, Paul [Vis alle 66 forfattere av denne artikkelen] (2013). Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. Nature Genetics. ISSN 1061-4036. 45(7), s. 730–738. doi: 10.1038/ng.2667.
• Mæhlen, Marthe Thoresen; Provan, Sella Aarrestad; de Rooy, Diederik P.C.; van der Helm-van Mil, Annette H.M.; Krabben, Annemarie & Saxne, Tore [Vis alle 14 forfattere av denne artikkelen] (2013). Associations between APOE Genotypes and Disease Susceptibility, Joint Damage and Lipid Levels in Patients with Rheumatoid Arthritis. PLOS ONE. ISSN 1932-6203. 8(4). doi: 10.1371/journal.pone.0060970.
• Omair, Ahmad; Holden, Marit; Lie, Benedicte Alexandra; Reikerås, Olav & Brox, Jens Ivar (2013). Treatment outcome of chronic low back pain and radiographic lumbar disc degeneration are associated with inflammatory and matrix degrading gene variants: a prospective genetic association study. BMC Musculoskeletal Disorders. ISSN 1471-2474. 14(105). doi: 10.1186/1471-2474-14-105. Vis sammendrag

  Background: Inflammatory and matrix degrading gene variants have been reported to be associated with disc degeneration. Some of these variants also modulate peripheral pain. This study examines the association of these genetic variants with radiographic lumbar disc degeneration and changes in pain and disability at long-term after surgical and cognitive behavioural management. Methods: 93 unrelated patients with chronic low back pain (CLBP) for duration of >1 year and lumbar disc degeneration were treated with lumbar fusion or cognitive intervention and exercises. Standardised questionnaires included the Oswestry Disability Index (ODI) and Visual Analog Score (VAS) for CLBP, were filled in by patients both at baseline and at 9 years follow-up. Degenerative changes at baseline Magnetic Resonance Imaging and Computed Tomography scans, were graded as moderate and severe (N=79). Yield and quality of blood and saliva DNA was assessed by nano drop spectrophotometry. Eight SNPs in 5 inflammatory and matrix degrading genes were successfully genotyped. Single marker and haplotype association with severity of degeneration, number of discs involved, changes in ODI and VAS CLBP, was done using Haploview, linear regression and R-package Haplostats. Results: Association analysis of individual SNPs revealed association of IL18RAP polymorphism rs1420100 with severe degeneration (p = 0.05) and more than one degenerated disc (p = 0.02). From the same gene two SNPs, rs917997 and rs1420106, were found to be in strong linkage disequilibrium (LD) and were associated with post treatment improvement in disability (p = 0.02). Haplotype association analysis of 5 SNPs spanning across IL18RAP, IL18R1 and IL1A genes revealed significant associations with improvement in disability (p=0.02) and reduction in pain (p=0.04). An association was found between MMP3 polymorphism rs72520913 and improvement in pain (p = 0.03) and with severe degeneration (p = 0.006). Conclusions: The findings of the current study suggest a role of variation at inflammatory and matrix degrading genes with severity of lumbar disc degeneration, pain and disability.

• Vang, Torkel; Landskron, Johannes; Viken, Marte K; Oberprieler, Nikolaus; Torgersen, Knut Martin & Mustelin, Tomas [Vis alle 10 forfattere av denne artikkelen] (2013). The autoimmune-predisposing variant of lymphoid tyrosine phosphatase favors T helper 1 responses. Human Immunology. ISSN 0198-8859. 74(5), s. 574–585. doi: 10.1016/j.humimm.2012.12.017.
• Mero, Inger-Lise; Gustavsen, Marte Wendel; Sæther, Hanne Skarpodde; Flåm, Siri Tennebø; Berg-Hansen, Pål & Søndergaard, Helle Bach [Vis alle 22 forfattere av denne artikkelen] (2013). Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles. PLOS ONE. ISSN 1932-6203. 8(3). doi: 10.1371/journal.pone.0058352.
• Gregersen, Peter K.; Kosoy, Roman; Lee, Annette T.; Lamb, Janine; Sussman, Jon & McKee, David [Vis alle 29 forfattere av denne artikkelen] (2012). Risk for Myasthenia Gravis Maps to a 151Pro!Ala Change in TNIP1 and to Human Leukocyte Antigen-B*08. Annals of Neurology. ISSN 0364-5134. 72(6), s. 927–935. doi: 10.1002/ana.23691.
• Omair, Ahmad; Lie, Benedicte Alexandra; Reikerås, Olav; Holden, Marit & Brox, Jens Ivar (2012). Genetic contribution of catechol-O-methyltransferase variants in treatment outcome of low back pain: a prospective genetic association study. BMC Musculoskeletal Disorders. ISSN 1471-2474. 13. doi: 10.1186/1471-2474-13-76. Vis sammendrag

  Background Treatment outcome of low back pain (LBP) is associated with inter-individual variations in pain relief and functional disability. Genetic variants of catechol-O-methyltransferase (COMT) gene have previously been shown to be associated with pain sensitivity and pain medication. This study examines the association between COMT polymorphisms and 7–11 year change in Oswestry Disability Index (ODI) and Visual Analog Score (VAS) for LBP as clinical outcome variables in patients treated with surgical instrumented lumbar fusion or cognitive intervention and exercise. Methods 93 unrelated patients with chronic LBP for duration of >1 year and lumbar disc degeneration (LDD) were treated with lumbar fusion (N = 60) or cognitive therapy and exercises (N = 33). Standardised questionnaires assessing the ODI, VAS LBP, psychological factors and use of analgesics, were answered by patients both at baseline and at 7–11 years follow-up. Four SNPs in the COMT gene were successfully genotyped. Single marker as well as haplotype association with change in ODI and VAS LBP, were analyzed using Haploview, linear regression and R-package Haplostats. P-values were not formally corrected for multiple testing as this was an explorative study. Results Association analysis of individual SNPs adjusted for covariates revealed association of rs4633 and rs4680 with post treatment improvement in VAS LBP (p = 0.02, mean difference (β) = 13.5 and p = 0.02, β = 14.2 respectively). SNPs, rs4633 and rs4680 were found to be genotypically similar and in strong linkage disequilibrium (LD). A significant association was found with covariates, analgesics (p = 0.001, β = 18.6); anxiety and depression (p = 0.008, β = 15.4) and age (p = 0.03, mean difference per year (β) = 0.7) at follow-up. There was a tendency for better improvement among heterozygous patients compared to the homozygous. No association was observed for the analysis of the common haplotypes, these SNPs were situated on. Conclusions Results suggest an influence of genetic variants of COMT gene in describing the variation in pain after treatment for low back pain. Replication in large samples with testing for other pain related genes is warranted.

• Namløs, Gry Beate; Carpenter, Daniela; Viken, Marte K; Kvien, Tore Kristian; Armour, John & Lie, Benedicte Alexandra (2012). Association analysis of the CCL3L1 copy number locus by paralogue ratio test in Norwegian rheumatoid arthritis patients and healthy controls. Genes and Immunity. ISSN 1466-4879. 13(7), s. 579–582. doi: 10.1038/gene.2012.30.
• Link, Jenny; Kockum, Ingrid; Lorentzen, Åslaug Rudjord; Lie, Benedicte Alexandra; Celius, Elisabeth Gulowsen & Westerlind, Helga [Vis alle 12 forfattere av denne artikkelen] (2012). Importance of human leukocyte antigen (HLA) class I and II alleles on the risk of multiple sclerosis. PLOS ONE. ISSN 1932-6203. 7(5:e36779). doi: 10.1371/journal.pone.0036779.
• Maniaol, Angelina; Elsais, Ahmed; Lorentzen, Åslaug Rudjord; Owe, Jone Furulund; Viken, Marte K & Sæther, Hanne Skarpodde [Vis alle 17 forfattere av denne artikkelen] (2012). Late onset myasthenia gravis is associated with HLA DRB1*15:01 in the Norwegian population. PLOS ONE. ISSN 1932-6203. 7(5). doi: 10.1371/journal.pone.0036603. Fulltekst i vitenarkiv
• Mero, Inger-Lise; SMESTAD, CATHRINE; Lie, Benedicte Alexandra; Lorentzen, Åslaug Rudjord; Sandvik, Leiv & Landrø, Nils Inge [Vis alle 10 forfattere av denne artikkelen] (2012). Polymorphisms of the BDNF gene show neither association with multiple sclerosis susceptibility nor clinical course. Journal of Neuroimmunology. ISSN 0165-5728. 244(1-2), s. 107–110. doi: 10.1016/j.jneuroim.2012.01.011.
• Eike, Morten Christoph; Skinningsrud, Beate; Ronninger, Marcus; Stormyr, Alice; Kvien, Tore Kristian & Joner, Geir [Vis alle 13 forfattere av denne artikkelen] (2012). CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations. Genes and Immunity. ISSN 1466-4879. 13(5), s. 431–436. doi: 10.1038/gene.2012.11. Vis sammendrag

  Expression of the major autoimmune risk loci DRB1 and DQB1 is regulated by the class II MHC (major histocompatibility complex) transactivator (CIITA), making the CIITA gene a strong autoimmune risk locus candidate. A CIITA promoter single-nucleotide polymorphism (SNP), rs3087456 (-168 A/G), has indeed been associated with several autoimmune diseases, including rheumatoid arthritis (RA). Recently, an intronic SNP rs8048002 has been suggested as a better susceptibility marker in Addison's disease. Therefore, we tested both SNPs in a panel of autoimmune diseases, consisting of Norwegian patients with RA (n=819), juvenile idiopathic arthritis (JIA; n=524), or type 1 diabetes (T1D; n=1211), and 2149 controls. We also included an independent Swedish RA cohort (n=2503) and controls (n=1416). Both rs3087456 and rs8048002 were significantly associated with RA (combined Norwegian and Swedish patients P(corrected)=0.012 and P(corrected)=0.0016, respectively), but not with JIA or T1D. Meta-analysis of 16 RA cohorts confirmed rs3087456 with only marginal significance (P=0.016). However, results were stronger in the Scandinavian subgroup (4 cohorts, P=3.8 × 10(-4)), indicating a population-dependent effect. A similar pattern was observed in a meta-analysis of rs8048002. Our results support involvement of CIITA in RA, but imply that this is population dependent and that the aetiological variant is yet to be discovered.

• Ronninger, Marcus; Seddighzadeh, Maria; Eike, Morten Christoph; Plant, Darren; Daha, Nina A. & Skinningsrud, Beate [Vis alle 12 forfattere av denne artikkelen] (2012). Interaction Analysis between HLA-DRB1 Shared Epitope Alleles and MHC Class II Transactivator CIITA Gene with Regard to Risk of Rheumatoid Arthritis. PLOS ONE. ISSN 1932-6203. 7(3). doi: 10.1371/journal.pone.0032861. Vis sammendrag

  HLA-DRB1 shared epitope (SE) alleles are the strongest genetic determinants for autoantibody positive rheumatoid arthritis (RA). One of the key regulators in expression of HLA class II receptors is MHC class II transactivator (CIITA). A variant of the CIITA gene has been found to associate with inflammatory diseases. We wanted to explore whether the risk variant rs3087456 in the CIITA gene interacts with the HLA-DRB1 SE alleles regarding the risk of developing RA. We tested this hypothesis in a case-control study with 11767 individuals from four European Caucasian populations (6649 RA cases and 5118 controls). We found no significant additive interaction for risk alleles among Swedish Caucasians with RA (n = 3869, attributable proportion due to interaction (AP) = 0.2, 95%CI: −0.2–0.5) or when stratifying for anti-citrullinated protein antibodies (ACPA) presence (ACPA positive disease: n = 2945, AP = 0.3, 95%CI: −0.05–0.6, ACPA negative: n = 2268, AP = −0.2, 95%CI: −1.0–0.6). We further found no significant interaction between the main subgroups of SE alleles (DRB1*01, DRB1*04 or DRB1*10) and CIITA. Similar analysis of three independent RA cohorts from British, Dutch and Norwegian populations also indicated an absence of significant interaction between genetic variants in CIITA and SE alleles with regard to RA risk. Our data suggest that risk from the CIITA locus is independent of the major risk for RA from HLA-DRB1 SE alleles, given that no significant interaction between rs3087456 and SE alleles was observed. Since a biological link between products of these genes is evident, the genetic contribution from CIITA and class II antigens in the autoimmune process may involve additional unidentified factors.

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• Robinson, Philip C.; Costello, Mary-Ellen; Leo, Paul; Bradbury, Linda A.; Hollis, Kelly & Cortes, Adrian [Vis alle 52 forfattere av denne artikkelen] (2015). ERAP2 is associated with ankylosing spondylitis in HLA-B27-positive and HLA-B27-negative patients. Annals of the Rheumatic Diseases. ISSN 0003-4967. 74(8), s. 1627–1629. doi: 10.1136/annrheumdis-2015-207416.
• Gustavsen, Marte Wendel; Celius, Elisabeth Gulowsen; Moen, Stine Marit; Bjølgerud, Anja; Berg-Hansen, Pål & Nygaard, Gro Owren [Vis alle 9 forfattere av denne artikkelen] (2015). No association between multiple sclerosis and periodontitis after adjusting for smoking habits. European Journal of Neurology. ISSN 1351-5101. 22(3), s. 588–590. doi: 10.1111/ene.12520.
• Sanchez-Mazas, Alicia; Buhler, Stéphane; Bekmane, Uma; Buus, Søren; Claas, Frans H.J. & Dormoy, Anne [Vis alle 39 forfattere av denne artikkelen] (2013). HLA-NET: A REAL EXAMPLE OF 'NETWORKING IN IMMUNOGENETICS'. Tissue Antigens. ISSN 0001-2815. 81(5), s. 300–301.
• Tinholt, Mari; Viken, MK; Borresen-Dale, AL; Kristensen, V; Karesen, R & Schlichting, E [Vis alle 12 forfattere av denne artikkelen] (2013). The link between the hemostatic system and cancer: A genotype-phenotype study in breast cancer patients. Thrombosis Research. ISSN 0049-3848. 131, s. S75–S76.
• Zaiss, Dietmar; Bekker, Cornelis; Grne, Andrea; Lie, Benedicte Alexandra & Sijts, Alice (2012). Proteasome immunosubunits protect against the development of CD8 T-cell-mediated autoimmune diseases. Molecular Immunology. ISSN 0161-5890. 51(1), s. 30–31. doi: 10.1016/j.molimm.2012.02.084.
• Viken, Marte K; Flåm, Siri Tennebø; Sollid, Ludvig Magne; Skrivarhaug, Torild; Dahl-Jørgensen, Knut & Lie, Benedicte Alexandra (2012). STUDY OF THE HLA-DRB1 AND-DQB1 GENES IN PATIENTS WITH COEXISTING TYPE 1 DIABETES AND CELIAC DISEASE. Tissue Antigens. ISSN 0001-2815. 79(6), s. 584–584.
• Merriman, Tony R.; Dalbeth, Nicola; Harrison, Andrew; Highton, John; Stamp, Lisa K. & Smith, Malcolm D. [Vis alle 20 forfattere av denne artikkelen] (2012). The Sex-Determining Region Y Box 6 Locus: Shared Genetic Susceptibility Between Rheumatoid Arthritis and Psychotic Disorder. Arthritis and Rheumatism. ISSN 0004-3591. 64(10), s. S505–S506.
• Leikfoss, Ingvild S; Mero, Inger-Lise; Dahle, Maria Krudtaa; Lie, Benedicte Alexandra; Harbo, Hanne Flinstad & Spurkland, Anne [Vis alle 7 forfattere av denne artikkelen] (2012). Multiple Sclerosis Associated Single Nucleotide Polymorphisms in CLEC16A Correlate with Reduced SOCS1 and DEXI Expression in Thymic Samples. Scandinavian Journal of Immunology. ISSN 0300-9475. 76(2), s. 196–196.

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