Rheumatology

Test tubes with lids in different colors in the foreground and a hand taking a blood sample on an arm in the background.

Rheumatic diseases are common and caused by an inability of the immune system to distinguish between self and non-self. This may lead to an immunological attack on various organs, such as joints, salivary glands, skin or kidneys. The overall aim for the Rheumatology research group is to understand the mechanisms behind the onset and development of different rheumatic diseases. In the long term, such knowledge may lead to better diagnostic procedures and treatments, and ultimately improve care and prognosis for these patient groups.

Description of our research

A female doctor examines the hand of a young female patient.

Rheumatic diseases are heterogenous, with considerable variation in disease manifestations even within the same diagnosis. Our research is focused on identifying risk factors for the different organ manifestations, and the mechanisms behind variation in disease severity between patients with the same rheumatic disease.

We are studying the impact of susceptibility genes, how these genes are regulated and expressed in different cells and tissues, and the importance of serum protein profiles for disease manifestations. Disease modifying mechanisms are studied experimentally.

Our main research areas are focused on Systemic lupus erythematosus (SLE), Sjögren´s disease, Systemic sclerosis and ANCA-associated vasculitis. The mechanisms behind the increased risk for malignant lymphoma in patients with some rheumatic diseases are investigated from several aspects. Clinical manifestations and new diagnostic methods in IgG4 related disease are being studied.

The Rheumatology research group is led by professor Gunnel Nordmark. Senior professor is Lars Rönnblom. Senior researchers are associate professors Dag Leonard, Maija-Leena Eloranta, Johanna Dahlqvist, Ann Knight and Eva Baecklund. Further, the group includes researchers, post-doctors, PhD students, students, a bioinformatician, research engineer and a research nurse.

Research projects

Arvidsson G, Czarnewski P, Johansson A, Raine A, Imgenberg-Kreuz J, Nordlund J, Nordmark G, Syvänen AC. Multimodal Single-Cell Sequencing of B Cells in Primary Sjögren's Syndrome. Arthritis Rheumatol. 2024 Feb;76(2):255-267. doi: 10.1002/art.42683. Epub 2023 Dec 18.PMID: 37610265

Hedenstedt A, Reid S, Sayadi A, Eloranta ML, Skoglund E, Bolin K, Frodlund M, Lerang K, Jönsen A, Rantapää-Dahlqvist S, Bengtsson AA, Rudin A, Molberg Ø, Sjöwall C, Sandling JK, Leonard D. B cell polygenic risk scores associate with anti-dsDNA antibodies and nephritis in systemic lupus erythematosus. Lupus Sci Med. 2023 Oct;10(2):e000926. doi: 10.1136/lupus-2023-000926.PMID: 37844960

Ekman D, Sennblad B, Knight A, Karlsson Å, Rantapää-Dahlqvist S, Berglin E, Stegmayr B, Baslund B, Palm Ø, Haukeland H, Gunnarsson I, Bruchfeld A, Segelmark M, Ohlsson S, Mohammad AJ, Svärd A, Pullerits R, Herlitz H, Söderbergh A, Omdal R, Jonsson R, Rönnblom L, Eriksson P, Lindblad-Toh K, Dahlqvist J. Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis. Rheumatology (Oxford). 2023 Sep 1;62(9):3213-3218. doi: 10.1093/rheumatology/kead152.PMID: 37004177

Dahlqvist J, Ekman D, Sennblad B, Kozyrev SV, Nordin J, Karlsson Å, Meadows JRS, Hellbacher E, Rantapää-Dahlqvist S, Berglin E, Stegmayr B, Baslund B, Palm Ø, Haukeland H, Gunnarsson I, Bruchfeld A, Segelmark M, Ohlsson S, Mohammad AJ, Svärd A, Pullerits R, Herlitz H, Söderbergh A, Rosengren Pielberg G, Hultin Rosenberg L, Bianchi M, Murén E, Omdal R, Jonsson R, Eloranta ML, Rönnblom L, Söderkvist P, Knight A, Eriksson P, Lindblad-Toh K. Identification and functional characterization of a novel susceptibility locus for small vessel vasculitis with MPO-ANCA. Rheumatology (Oxford). 2022 Aug 3;61(8):3461-3470. doi: 10.1093/rheumatology/keab912.PMID: 34888651

Thorlacius GE, Hultin-Rosenberg L, Sandling JK, Bianchi M, Imgenberg-Kreuz J, Pucholt P, Theander E, Kvarnström M, Forsblad-d'Elia H, Bucher SM, Norheim KB, Johnsen SJA, Hammenfors D, Skarstein K, Jonsson MV, Baecklund E, Aqrawi LA, Jensen JL, Palm Ø, Morris AP; DISSECT consortium; the ImmunoArray consortium; Meadows JRS, Rantapää-Dahlqvist S, Mandl T, Eriksson P, Lind L, Omdal R, Jonsson R, Lindblad-Toh K, Rönnblom L, Wahren-Herlenius M, Nordmark G. Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome. Rheumatology (Oxford). 2021 Feb 1;60(2):837-848. doi: 10.1093/rheumatology/keaa367.PMID: 32889544

Reid S, Hagberg N, Sandling JK, Alexsson A, Pucholt P, Sjöwall C, Lerang K, Jönsen A, Gunnarsson I, Syvänen AC, Troldborg AM, Voss A, Bengtsson AA, Molberg Ø, Jacobsen S, Svenungsson E, Rönnblom L, Leonard D. Interaction between the STAT4 rs11889341(T) risk allele and smoking confers increased risk of myocardial infarction and nephritis in patients with systemic lupus erythematosus. Ann Rheum Dis. 2021 Sep;80(9):1183-1189. doi: 10.1136/annrheumdis-2020-219727. Epub 2021 Mar 25.PMID: 3376689

Reid S, Alexsson A, Frodlund M, Morris D, Sandling JK, Bolin K, Svenungsson E, Jönsen A, Bengtsson C, Gunnarsson I, Illescas Rodriguez V, Bengtsson A, Arve S, Rantapää-Dahlqvist S, Eloranta ML, Syvänen AC, Sjöwall C, Vyse TJ, Rönnblom L, Leonard D. High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus. Ann Rheum Dis. 2020 Mar;79(3):363-369. doi: 10.1136/annrheumdis-2019-216227. Epub 2019 Dec 11.PMID: 31826855

Vasaitis L, Nordmark G, Theander E, Backlin C, Smedby KE, Askling J, Rönnblom L, Sundström C, Baecklund E. Population-based study of patients with primary Sjögren's syndrome and lymphoma: lymphoma subtypes, clinical characteristics, and gender differences. Scand J Rheumatol. 2020 May;49(3):225-232. doi: 10.1080/03009742.2019.1696403. Epub 2020 Mar 10.PMID: 32153241

Hellbacher E, Hjorton K, Backlin C, Enblad G, Sundström C, Baecklund E, Knight A. Malignant lymphoma in granulomatosis with polyangiitis: subtypes, clinical characteristics and prognosis. Acta Oncol. 2019 Nov;58(11):1655-1659. doi: 10.1080/0284186X.2019.1634833. Epub 2019 Aug 13.PMID: 31407922

Imgenberg-Kreuz J, Sandling JK, Almlöf JC, Nordlund J, Signér L, Norheim KB, Omdal R, Rönnblom L, Eloranta ML, Syvänen AC, Nordmark G. Genome-wide DNA methylation analysis in multiple tissues in primary Sjögren's syndrome reveals regulatory effects at interferon-induced genes. Ann Rheum Dis. 2016 Nov;75(11):2029-2036. doi: 10.1136/annrheumdis-2015-208659. Epub 2016 Feb 8.PMID: 26857698

FOLLOW UPPSALA UNIVERSITY ON

facebook
instagram
twitter
youtube
linkedin