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1. OP0113 GENOME-WIDE ASSOCIATION STUDY OF Ro/SSA+ AND Ro/SSA-SJÖGREN’S CASES IN THE SJÖGREN’S GENETIC NETWORK (SGENE) DEMONSTRATES DIVERGENT GENETIC ARCHITECTURE IN PATIENT SUBPHENOTYPES

Author

Rasmussen, A., primary, Radziszewski, M., additional, Khatri, B., additional, Tessneer, K. L., additional, Pontarini, E., additional, Bombardieri, M., additional, Rischmueller, M., additional, Wahren-Herlenius, M., additional, Kvarnström, M., additional, Witte, T., additional, Bootsma, H., additional, Verstappen, G. M., additional, Kroese, F. G. M., additional, Vissink, A., additional, Pringle, S., additional, Tzioufas, A., additional, Mavragani, C., additional, Baer, A., additional, Alarcon-Riquelme, M., additional, Martin, J., additional, Mariette, X., additional, Nocturne, G., additional, Pers, J. O., additional, Gottenberg, J. E., additional, Ng, W. F., additional, Shiboski, C., additional, Taylor, K. E., additional, Criswell, L., additional, Warner, B. M., additional, Farris, A. D., additional, James, J. A., additional, Scofield, R. H., additional, Guthridge, J. M., additional, Wallace, D. J., additional, Venuturupali, S., additional, Brennan, M. T., additional, Imgenberg-Kreuz, J., additional, Ronnblom, L., additional, Baecklund, E., additional, Eloranta, M. L., additional, Aqrawi, L. A., additional, Palm, Ø., additional, Brun, J. G., additional, Hammenfors, D., additional, Jonsson, M. V., additional, Appel, S., additional, Bucher, S. M., additional, Forsblad-D’elia, H., additional, Mandl, T., additional, Eriksson, P., additional, Nordmark, G., additional, and Lessard, C. J., additional

Published
2024
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2. POS1468 A HIGH GENETIC RISK OF SLE IS ASSOCIATED WITH AN INCREASED RISK OF MYOCARDIAL INFARCTION AND IMPAIRED KIDNEY FUNCTION; A COMBINED OBSERVATIONAL AND MENDELIAN RANDOMIZATION STUDY

Author

Reid, S., primary, Sandling, J., additional, Pucholt, P., additional, Sayadi, A., additional, Sjowall, C., additional, Frodlund, M., additional, Lerang, K., additional, Jonsen, A., additional, Bengtsson, A., additional, Molberg, Ø., additional, Rudin, A., additional, Rantapää Dahlqvist, S., additional, Ronnblom, L., additional, and Leonard, D., additional

Published
2023
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3. POS0096 SJÖGREN’S DISEASE AND SYSTEMIC LUPUS ERYTHEMATOSUS DDX6-CXCR5 RISK INTERVALS REVEAL COMMON SNPS WITH FUNCTIONAL SIGNIFICANCE IN IMMUNE AND SALIVARY GLAND CELLS

Author

Wiley, M. M., primary, Khatri, B., additional, Tessneer, K. L., additional, Joachims, M. L., additional, Stolarczyk, A. M., additional, Nagel, A., additional, Rasmussen, A., additional, Bowman, S. J., additional, Radfar, L., additional, Omdal, R., additional, Wahren-Herlenius, M., additional, Warner, B. M., additional, Witte, T., additional, Jonsson, R., additional, Rischmueller, M., additional, Gaffney, P. M., additional, James, J. A., additional, Ronnblom, L., additional, Scofield, R. H., additional, Mariette, X., additional, Ng, W. F., additional, Sivils, K., additional, Nordmark, G., additional, Tsao, B., additional, and Lessard, C., additional

Published
2022
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4. OP0111 INTEGRATION OF GWAS AND EPIGENETIC STUDIES IDENTIFIES NOVEL GENES THAT ALTER EXPRESSION IN THE MINOR SALIVARY GLAND IN SJÖGREN’S DISEASE

Author

Aghakhanian, F., primary, Wiley, M. M., additional, Khatri, B., additional, Tessneer, K. L., additional, Rasmussen, A., additional, Bowman, S. J., additional, Radfar, L., additional, Omdal, R., additional, Wahren-Herlenius, M., additional, Warner, B. M., additional, Witte, T., additional, Jonsson, R., additional, Rischmueller, M., additional, Gaffney, P. M., additional, James, J. A., additional, Ronnblom, L., additional, Scofield, R. H., additional, Mariette, X., additional, Alarcon-Riquelme, M., additional, Ng, W. F., additional, Sivils, K., additional, Nordmark, G., additional, Deshmukh, U., additional, Farris, A. D., additional, and Lessard, C., additional

Published
2022
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5. POS0370 TYPE I INTERFERON PATHWAY ASSAYS IN PATIENTS WITH RHEUMATIC AND MUSCULOSKELETAL DISEASES - SYSTEMATIC LITERATURE REVIEW (SLR) AND DEVELOPMENT OF CONSENSUS TERMINOLOGY FROM A EULAR TASKFORCE

Author

Burska, A., primary, Rodriguez Carrio, J., additional, Conaghan, P. G., additional, Dik, W. A., additional, Biesen, R., additional, Eloranta, M. L., additional, Cavalli, G., additional, Visser, M., additional, Boumpas, D., additional, Bertsias, G., additional, Wahren-Herlenius, M., additional, Rehwinkel, J., additional, Frémond, M. L., additional, Crow, M. K., additional, Ronnblom, L., additional, Vital, E., additional, and Versnel, M., additional

Published
2021
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6. OP0047 GENOME-WIDE ASSOCIATION STUDY OF SJÖGREN’S SYNDROME IDENTIFIES TEN NEW RISK LOCI

Author

Khatri, B., primary, Reksten, T. R., additional, Tessneer, K. L., additional, Rasmussen, A., additional, Scofield, R. H., additional, Bowman, S. J., additional, Guthridge, J., additional, James, J. A., additional, Ronnblom, L., additional, Warner, B. M., additional, Mariette, X., additional, Omdal, R., additional, Martin Ibanez, J., additional, Teruel, M., additional, Jensen, J. L., additional, Aqrawi, L. A., additional, Palm, Ø., additional, Wahren-Herlenius, M., additional, Witte, T., additional, Jonsson, R., additional, Rischmueller, M., additional, Farris, A. D., additional, Alarcon-Riquelme, M., additional, Ng, W. F., additional, Sivils, K. L., additional, Nordmark, G., additional, and Lessard, C., additional

Published
2020
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7. OP0139 FUNCTIONAL EVALUATION OF THE SJÖGREN’S SYNDROME AND SYSTEMIC LUPUS ERYTHEMATOSUS DDX6-CXCR5 RISK INTERVAL

Author

Wiley, M. M., primary, Khatri, B., additional, Tessneer, K. L., additional, Joachims, M. L., additional, Stolarczyk, A. M., additional, Rasmussen, A., additional, Bowman, S. J., additional, Radfar, L., additional, Omdal, R., additional, Wahren-Herlenius, M., additional, Warner, B. M., additional, Witte, T., additional, Jonsson, R., additional, Rischmueller, M., additional, Gaffney, P. M., additional, James, J. A., additional, Ronnblom, L., additional, Scofield, R. H., additional, Mariette, X., additional, Ng, W. F., additional, Sivils, K. L., additional, Nordmark, G., additional, Tsao, B., additional, and Lessard, C., additional

Published
2020
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8. Changes of cartilage and bone markers after intra-articular glucocorticoid treatment with and without postinjection rest in patients with rheumatoid arthritis

Author

Weitoft, T., Larsson, A., Saxne, T., and Ronnblom, L.

Subjects
Rheumatoid arthritis -- Care and treatment, Injections, Intra-articular -- Usage, Injections, Intra-articular -- Physiological aspects, Cartilage -- Physiological aspects, Synovitis -- Care and treatment, Knee joint -- Diseases, Knee -- Diseases, Corticosteroids -- Dosage and administration, Bones -- Growth, Bones -- Analysis, Health
Published
2005

11. Targeted next-generation sequencing suggests novel risk loci in juvenile onset systemic lupus erythematosus

Author

Sandling, J. K., Rosenberg, L. Hultin, Farias, F. H. G., Alexsson, A., Leonard, D., Kozyrev, S., Muren, E., Karlsson, A., Mathioudaki, A., Pucholt, P., Eriksson, D., Pielberg, G., Meadows, J., Nordin, J., Dahlqvist, J., Bianchi, M., Bengtsson, Christine, Jonsen, A., Padyukov, L., Eloranta, M. L., Sjowall, C., Gunnarsson, I., Svenungsson, E., Rantapää-Dahlqvist, Solbritt, Bengtsson, A. A., Syvanen, A. C., Lindblad-Toh, K., Ronnblom, L., Sandling, J. K., Rosenberg, L. Hultin, Farias, F. H. G., Alexsson, A., Leonard, D., Kozyrev, S., Muren, E., Karlsson, A., Mathioudaki, A., Pucholt, P., Eriksson, D., Pielberg, G., Meadows, J., Nordin, J., Dahlqvist, J., Bianchi, M., Bengtsson, Christine, Jonsen, A., Padyukov, L., Eloranta, M. L., Sjowall, C., Gunnarsson, I., Svenungsson, E., Rantapää-Dahlqvist, Solbritt, Bengtsson, A. A., Syvanen, A. C., Lindblad-Toh, K., and Ronnblom, L.

Published
2019

12. Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits

Author

Morin, A., Madore, Anne-Marie, Kwan, T., Ban, Maria, Partanen, J., Ronnblom, L., Stunnenberg, Hendrik, Pastinen, T., Laprise, C., Morin, A., Madore, Anne-Marie, Kwan, T., Ban, Maria, Partanen, J., Ronnblom, L., Stunnenberg, Hendrik, Pastinen, T., and Laprise, C.

Abstract

Contains fulltext : 199862.pdf (publisher's version ) (Open Access)

Published
2019

15. The risk allele A of rs200395694 associated with SLE in Swedish patients affects on MEF2D gene regulation and alternative splicing

Author

Abramov, Sergei, Kozyrev, Sergey V., Farias, Fabiana H. G., Dahlqvist, Johanna, Leonard, Dag, Wilbe, Maria, Alexsson, Andrei, Pielberg, Gerli, Hansson-Hamlin, H., Andersson, G., Tandre, Karolina, Eloranta, Maija-Leena, Ronnblom, L., Lindblad-Toh, Kerstin, Abramov, Sergei, Kozyrev, Sergey V., Farias, Fabiana H. G., Dahlqvist, Johanna, Leonard, Dag, Wilbe, Maria, Alexsson, Andrei, Pielberg, Gerli, Hansson-Hamlin, H., Andersson, G., Tandre, Karolina, Eloranta, Maija-Leena, Ronnblom, L., and Lindblad-Toh, Kerstin

Published
2018

16. Shared and unique patterns of DNA methylation in primary Sjogren's syndrome and systemic lupus erythematosus

Author

Imgenberg-Kreuz, J., Leonard, D., Almlof, J. Carlsson, Rantapää-Dahlqvist, Solbritt, Bengtsson, A., Jonsen, A., Padyukov, L., Gunnarsson, I., Svenungsson, E., Sjowall, C., Syvanen, A., Ronnblom, L., Nordmark, G., Sandling, J., Imgenberg-Kreuz, J., Leonard, D., Almlof, J. Carlsson, Rantapää-Dahlqvist, Solbritt, Bengtsson, A., Jonsen, A., Padyukov, L., Gunnarsson, I., Svenungsson, E., Sjowall, C., Syvanen, A., Ronnblom, L., Nordmark, G., and Sandling, J.

Abstract

Supplement: 129Meeting Abstract: OP04

Published
2018

17. Randomised controlled study of postinjection immobilisation after intra-articular glucocorticoid treatment for wrist synovitis

Author

Weitoft, T and Ronnblom, L

Subjects
Care and treatment, Evaluation, Adrenocortical hormones -- Evaluation, Glucocorticoids -- Evaluation, Wrist injuries -- Care and treatment, Arthritis -- Care and treatment, Synovitis -- Care and treatment, Corticosteroids -- Evaluation, Wrist -- Injuries
Abstract

Background: Intra-articular glucocorticoid treatment is frequently used in arthritic disorders. Postinjection rest has been shown to improve the outcome of knee injections. Objective: To investigate whether better treatment results might [...]

Published
2003

19. Epigenome data release: a participant-centered approach to privacy protection

Author

Dyke, S.O.M., Cheung, W.A., Joly, Y., Ammerpohl, O., Lutsik, P., Rothstein, M.A., Caron, M., Busche, S., Bourque, G., Ronnblom, L., Flicek, P., Beck, S., Hirst, M., Stunnenberg, H., Siebert, R., Walter, J., Pastinen, T., Dyke, S.O.M., Cheung, W.A., Joly, Y., Ammerpohl, O., Lutsik, P., Rothstein, M.A., Caron, M., Busche, S., Bourque, G., Ronnblom, L., Flicek, P., Beck, S., Hirst, M., Stunnenberg, H., Siebert, R., Walter, J., and Pastinen, T.

Abstract

Contains fulltext : 149175.pdf (publisher's version ) (Open Access)

Published
2015

21. Contribution of IKBKE and IFIH1 gene variants to SLE susceptibility

Author

Wang, C., Ahlford, A., Laxman, N., Nordmark, G., Eloranta, M-L, Gunnarsson, I., Svenungsson, E., Padyukov, L., Sturfelt, G., Jonsen, A., Bengtsson, A. A., Truedsson, L., Rantapää-Dahlqvist, Solbritt, Sjowall, C., Sandling, J. K., Ronnblom, L., Syvanen, A-C, Wang, C., Ahlford, A., Laxman, N., Nordmark, G., Eloranta, M-L, Gunnarsson, I., Svenungsson, E., Padyukov, L., Sturfelt, G., Jonsen, A., Bengtsson, A. A., Truedsson, L., Rantapää-Dahlqvist, Solbritt, Sjowall, C., Sandling, J. K., Ronnblom, L., and Syvanen, A-C

Abstract

The type I interferon system genes IKBKE and IFIH1 are associated with the risk of systemic lupus erythematosus (SLE). To identify the sequence variants that are able to account for the disease association, we resequenced the genes IKBKE and IFIH1. Eighty-six single-nucleotide variants (SNVs) with potentially functional effect or differences in allele frequencies between patients and controls determined by sequencing were further genotyped in 1140 SLE patients and 2060 controls. In addition, 108 imputed sequence variants in IKBKE and IFIH1 were included in the association analysis. Ten IKBKE SNVs and three IFIH1 SNVs were associated with SLE. The SNVs rs1539241 and rs12142086 tagged two independent association signals in IKBKE, and the haplotype carrying their risk alleles showed an odds ratio of 1.68 (P-value = 1.0 x 10(-5)). The risk allele of rs12142086 affects the binding of splicing factor 1 in vitro and could thus influence its transcriptional regulatory function. Two independent association signals were also detected in IFIH1, which were tagged by a low-frequency SNV rs78456138 and a missense SNV rs3747517. Their joint effect is protective against SLE (odds ratio = 0.56; P-value = 6.6 x 10(-3)). In conclusion, we have identified new SLE-associated sequence variants in IKBKE and IFIH1, and proposed functional hypotheses for the association signals.

Published
2013
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22. No association of primary Sjogrens syndrome with Fc gamma receptor gene variants

Author

Haldorsen, K., Appel, S., Le Hellard, S., Bruland, O., Brun, J. G., Omdal, R., Kristjansdottir, G., Theander, E., Fernandes, C. P. D., Kvarnstrom, M., Eriksson, Per, Ronnblom, L., Herlenius, M. W., Nordmark, G., Jonsson, R., Bolstad, A. I., Haldorsen, K., Appel, S., Le Hellard, S., Bruland, O., Brun, J. G., Omdal, R., Kristjansdottir, G., Theander, E., Fernandes, C. P. D., Kvarnstrom, M., Eriksson, Per, Ronnblom, L., Herlenius, M. W., Nordmark, G., Jonsson, R., and Bolstad, A. I.

Abstract

The genetic background of primary Sjogrens syndrome (pSS) is partly shared with systemic lupus erythematosus (SLE). Immunoglobulin G Fc receptors are important for clearance of immune complexes. Fcg receptor variants and gene deletion have been found to confer SLE risk. In this study, four Fc gamma receptor single-nucleotide polymorphisms (SNPs) and one copy number variation (CNV) were studied. Swedish and Norwegian pSS patients (N = 527) and controls (N = 528) were genotyped for the Fc gamma receptor gene variant FCGR2A H131R (rs1801274) by the Illumina GoldenGate assay. FCGR3A F158V (rs396991) was analysed in 488 patients and 485 controls, FCGR3B rs447536 was analysed in 471 patients and 467 controls, and FCGR3B rs448740 was analysed in 478 cases and 455 controls, using TaqMan SNP genotyping assays. FCGR3B CNV was analysed in 124 patients and 139 controls using a TaqMan copy number assay. None of the SNPs showed any association with pSS. Also, no FCGR3B CNV association was detected. The lack of association of pSS with Fc gamma receptor gene variants indicates that defective immune complex clearance may not be as important in pSS pathogenesis as in SLE, and may point to important differences between SLE and pSS.

Published
2013
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23. Fc gamma receptor IIA, IIIA and IIIB single nucleotide polymorphisms and Fc gamma receptor IIIB copy number variation: No association with primary Sjogrens syndrome in SCANDINAVIAN JOURNAL OF RHEUMATOLOGY, vol 39, issue , pp 36-36

Author

Haldorsen, K, Appel, S, Bruland, O, Le Hellard, S, Brun, J G, Omdal, R, Kristjansdottir, G, Theander, E, Nordmark, G, Kvamstrom, M, Eriksson, Per, Ronnblom, L, Wahren-Herlenius, M, Jonsson, R, I Bolstad, A, Haldorsen, K, Appel, S, Bruland, O, Le Hellard, S, Brun, J G, Omdal, R, Kristjansdottir, G, Theander, E, Nordmark, G, Kvamstrom, M, Eriksson, Per, Ronnblom, L, Wahren-Herlenius, M, Jonsson, R, and I Bolstad, A

Abstract

n/a

Published
2010

24. Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjogrens syndrome

Author

Nordmark, G, Kristjansdottir, G, Theander, E, Eriksson, Per, Brun, J G, Wang, C, Padyukov, L, Truedsson, L, Alm, G, Eloranta, M-L, Jonsson, R, Ronnblom, L, Syvanen, A-C, Nordmark, G, Kristjansdottir, G, Theander, E, Eriksson, Per, Brun, J G, Wang, C, Padyukov, L, Truedsson, L, Alm, G, Eloranta, M-L, Jonsson, R, Ronnblom, L, and Syvanen, A-C

Abstract

Primary Sjogrens syndrome (SS) shares many features with systemic lupus erythematosus (SLE). Here we investigated the association of the three major polymorphisms in IRF5 and STAT4 found to be associated with SLE, in patients from Sweden and Norway with primary SS. These polymorphisms are a 5-bp CGGGG indel in the promoter of IRF5, the single nucleotide polymorphism (SNP) rs10488631 downstream of IRF5 and the STAT4 SNP rs7582694, which tags the major risk haplotype of STAT4. We observed strong signals for association between all three polymorphisms and primary SS, with odds ratios (ORs) > 1.4 and P-values < 0.01. We also found a strong additive effect of the three risk alleles of IRF5 and STAT4 with an overall significance between the number of risk alleles and primary SS of P = 2.5 x 10(-9). The OR for primary SS increased in an additive manner, with an average increase in OR of 1.78. For carriers of two risk alleles, the OR for primary SS is 1.43, whereas carriers of five risk alleles have an OR of 6.78. IRF5 and STAT4 are components of the type I IFN system, and our findings emphasize the importance of this system in the etiopathogenesis of primary SS.

Published
2009
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25. Clinical manifestations and anti-phospholipid antibodies in 712 patients with systemic lupus erythematosus: evaluation of two diagnostic assays

Author

Vikerfors, A., primary, Johansson, A.-B., additional, Gustafsson, J. T., additional, Jonsen, A., additional, Leonard, D., additional, Zickert, A., additional, Nordmark, G., additional, Sturfelt, G., additional, Bengtsson, A., additional, Ronnblom, L., additional, Gunnarsson, I., additional, Elvin, K., additional, and Svenungsson, E., additional

Published
2012
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34. A STAT4 risk allele is associated with ischaemic cerebrovascular events and anti-phospholipid antibodies in systemic lupus erythematosus

Author

Svenungsson, E., primary, Gustafsson, J., additional, Leonard, D., additional, Sandling, J., additional, Gunnarsson, I., additional, Nordmark, G., additional, Jonsen, A., additional, Bengtsson, A. A., additional, Sturfelt, G., additional, Rantapaa-Dahlqvist, S., additional, Elvin, K., additional, Sundin, U., additional, Garnier, S., additional, Simard, J. F., additional, Sigurdsson, S., additional, Padyukov, L., additional, Syvanen, A.-C., additional, and Ronnblom, L., additional

Published
2009
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38. A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5

Author

Sigurdsson, S., primary, Nordmark, G., additional, Garnier, S., additional, Grundberg, E., additional, Kwan, T., additional, Nilsson, O., additional, Eloranta, M.-L., additional, Gunnarsson, I., additional, Svenungsson, E., additional, Sturfelt, G., additional, Bengtsson, A. A., additional, Jonsen, A., additional, Truedsson, L., additional, Rantapaa-Dahlqvist, S., additional, Eriksson, C., additional, Alm, G., additional, Goring, H. H.H., additional, Pastinen, T., additional, Syvanen, A.-C., additional, and Ronnblom, L., additional

Published
2008
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