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Sökning: WFRF:(Frostegard J) > Linköpings universitet

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1.
  • Langefeld, Carl D., et al. (författare)
  • Transancestral mapping and genetic load in systemic lupus erythematosus
  • 2017
  • Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 8
  • Tidskriftsartikel (refereegranskat)abstract
    • Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (similar to 50% of these regions have multiple independent associations); these include 24 novel SLE regions (P < 5 x 10(-8)), refined association signals in established regions, extended associations to additional ancestries, and a disentangled complex HLA multigenic effect. The risk allele count (genetic load) exhibits an accelerating pattern of SLE risk, leading us to posit a cumulative hit hypothesis for autoimmune disease. Comparing results across the three ancestries identifies both ancestry-dependent and ancestry-independent contributions to SLE risk. Our results are consistent with the unique and complex histories of the populations sampled, and collectively help clarify the genetic architecture and ethnic disparities in SLE.
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2.
  • Waldheim, E., et al. (författare)
  • Variation in pain related to systemic lupus erythematosus (SLE): a 7-year follow-up study
  • 2018
  • Ingår i: Clinical Rheumatology. - : Springer Science and Business Media LLC. - 0770-3198 .- 1434-9949. ; 37:7, s. 1825-1834
  • Tidskriftsartikel (refereegranskat)abstract
    • We have previously shown that most patients with systemic lupus erythematosus (SLE) reported low degree of SLE-related pain. However, 24% of the patients reported high degree of SLE-related pain, more fatigue, anxiety and depression, and worse health-related quality of life (HRQoL). To explore SLE-related pain, the presence of long-standing widespread pain, and patient-reported outcomes (PROs) after 7 years. Sixty-four out of 84 patients participated in a 7-year follow-up of the original survey and completed the same questionnaires answered at inclusion: pain (VAS 100 mm), fatigue (MAF), HRQoL (SF-36), anxiety and depression (HADS), and, if appropriate, a pain-drawing. Differences between inclusion and follow-up (change) were calculated. The patients with a low degree of SLE-related pain at inclusion reported no changes at follow-up in pain and PROs except for worsening in physical function in SF-36, median change (IQR) 0 (- 10 to 5), p = 0.024. Half of the patients with high degree of pain at inclusion reported decreased pain at follow-up, median change (IQR) 45 (35 to 65), p = 0.021; fatigue, 8 (8 to 17), p = 0.018; anxiety, 4 (1 to 4), p = 0.035; and depression, 4 (2 to 5), p = 0.018 and improvements in most dimensions of SF-36. The remaining half of the patients reported no changes regarding pain and PROs except for a worsening in vitality in SF-36, 20 (15 to 35), p = 0.0018. All patients with remaining high level of pain indicated long-standing widespread pain. After 7 years, a subgroup of patients with SLE reported remaining high level of SLE-related pain and a high symptom burden, including long-standing widespread pain. Such patients require more observant attention to receive appropriate treatment.
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