Publications by authors named "Johannes Mofors"

Objectives: To calculate a polygenic risk score (PRS) based on single nucleotide variants (SNVs) previously associated with primary Sjögren's disease (SjD) with genome-wide significance, and determine the genetic risk for SjD stratified by antibodies, sex and age at diagnosis.

Methods: Patients with SjD (n = 1065) were genotyped using Illumina OmniExpressExome chip. Control genotype data were available (n = 7742).

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Article Synopsis
  • Neonatal lupus erythematosus (NLE) is linked to maternal autoantibodies that can cause congenital heart block (CHB) with various cardiac issues; a low recurrence rate suggests other contributing factors may be involved.* -
  • Researchers conducted a genome-wide study to uncover fetal genetic variants that increase the risk of CHB, utilizing several advanced techniques to analyze gene and protein expression.* -
  • The study identified auxilin as a significant fetal susceptibility gene affecting cardiac function, indicating potential new directions for screening and treating CHB in affected infants.*
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Objectives: Infections have been proposed as an environmental risk factor for autoimmune disease. Responses to microbial antigens may be studied in vivo during vaccination. We therefore followed patients with SLE and controls during split-virion influenza vaccination to quantify antibody responses against viral antigens and associated cellular and proteome parameters.

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Background: Cigarette smoking is a well-established risk factor for several autoimmune diseases, but its role in primary Sjögren's syndrome (pSS) remains unclear. Here, we investigated the association between cigarette smoking and subsequent development of pSS.

Methods: Information on smoking habits was collected from lifestyle habit questionnaires of patients with pSS (n=815) and a matched control group (n=4425) for a case-control study.

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  • The study explores alternative methods to assess interferon (IFN) system activity in patients with primary Sjögren's syndrome (pSS) using plasma, serum, and DNA, instead of relying solely on RNA samples.
  • Various scoring systems were compared, including protein-based IFN scores (pIFN) derived from specific proteins and DNA methylation-based IFN scores (DNAm), which showed strong correlations with traditional mRNA-based IFN scores.
  • The findings suggest that these new methods could be beneficial in research settings where RNA is difficult to obtain, providing reliable classifications of IFN activity in systemic rheumatic diseases.
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Objective: Systemic lupus erythematosus (SLE) predominantly affects women, but previous studies suggest that men with SLE present a more severe disease phenotype. In this study, we investigated a large and well-characterized patient group with the aim of identifying sex differences in disease manifestations, with a special focus on renal involvement.

Methods: We studied a Swedish multi-center SLE cohort including 1226 patients (1060 women and 166 men) with a mean follow-up time of 15.

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Objectives: Infections have been suggested in the pathogenesis of primary SS (pSS). Systematic studies of immune responses to microbial antigens in vivo may be performed during vaccination. In the present study, we therefore longitudinally followed patients with pSS and controls during split-virion influenza vaccination to identify pSS-specific cellular, transcriptomic and serological responses.

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Objective: Congenital heart block (CHB) may develop in fetuses of Ro/SSA autoantibody-positive women. Given the rarity of CHB, information on comorbidity and complications later in life is difficult to systematically collect for large groups of patients. We therefore used nation-wide healthcare registers to investigate comorbidity and outcomes in patients with CHB and their siblings.

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Objectives: Vaccination of patients with rheumatic disease has been reported to result in lower antibody titres than in healthy individuals. However, studies primarily include patients on immunosuppressive therapy. Here, we investigated the immune response of treatment-naïve patients diagnosed with primary Sjögren's syndrome (pSS) to an H1N1 influenza vaccine.

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