SwePub
Sök i SwePub databas

  Utökad sökning

AND är defaultoperator och kan utelämnas

Träfflista för sökning "AMNE:(MEDICAL AND HEALTH SCIENCES Basic Medicine Microbiology in the medical area) ;pers:(Truedsson Lennart)"

Sökning: AMNE:(MEDICAL AND HEALTH SCIENCES Basic Medicine Microbiology in the medical area) > Truedsson Lennart

  • Resultat 1-10 av 23
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  •  
2.
  • Kozyrev, Sergey V, et al. (författare)
  • Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus
  • 2008
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 40:2, s. 211-216
  • Tidskriftsartikel (refereegranskat)abstract
    • Systemic lupus erythematosus (SLE) is a prototypical autoimmune disease characterized by production of autoantibodies and complex genetic inheritance(1-3). In a genome-wide scan using 85,042 SNPs, we identified an association between SLE and a nonsynonymous substitution (rs10516487, R61H) in the B-cell scaffold protein with ankyrin repeats gene, BANK1. We replicated the association in four independent case-control sets (combined P = 3.7 x 10(-10); OR = 1.38). We analyzed BANK1 cDNA and found two isoforms, one full-length and the other alternatively spliced and lacking exon 2 (Delta 2), encoding a protein without a putative IP3R-binding domain. The transcripts were differentially expressed depending on a branch point-site SNP, rs17266594, in strong linkage disequilibrium (LD) with rs10516487. A third associated variant was found in the ankyrin domain (rs3733197, A383T). Our findings implicate BANK1 as a susceptibility gene for SLE, with variants affecting regulatory sites and key functional domains. The disease-associated variants could contribute to sustained B cell-receptor signaling and B-cell hyperactivity characteristic of this disease.
  •  
3.
  • Linga-Reddy, M. V. Prasad, et al. (författare)
  • A polymorphic variant in the MHC2TA gene is not associated with systemic lupus erythematosus
  • 2007
  • Ingår i: Tissue Antigens. - : Wiley. - 0001-2815 .- 1399-0039. ; 70:5, s. 412-414
  • Tidskriftsartikel (refereegranskat)abstract
    • Single-nucleotide polymorphisms (SNPs) in the major histocompatibility complex class II transactivator (MHC2TA) gene encoding the class II transactivator have been associated with multiple sclerosis, rheumatoid arthritis, and myocardial infarction in the Swedish population. We used a case-control approach to investigate the prevalence of a relevant variant in Swedish systemic lupus erythematosus (SLE) cohorts to determine whether SLE shares the same MHC2TA susceptibility allele as the other diseases. No differences were observed between cases and control subjects at either the allele or genotype levels. Furthermore, no significant correlations were found when comparing different clinical and serological SLE phenotypes. This particular polymorphism rs3087456 of the MHC2TA gene does not appear to influence genetic susceptibility to SLE in the Swedish population. We conclude that our data support neither allelic nor genotype association between the MHC2TA SNP and SLE.
  •  
4.
  • Prokunina, Ludmila, et al. (författare)
  • A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans
  • 2002
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 32:4, s. 666-669
  • Recension (övrigt vetenskapligt/konstnärligt)abstract
    • Systemic lupus erythematosus (SLE, OMIM 152700) is a complex autoimmune disease that affects 0.05% of the Western population, predominantly women. A number of susceptibility loci for SLE have been suggested in different populations, but the nature of the susceptibility genes and mutations is yet to be identified. We previously reported a susceptibility locus (SLEB2) for Nordic multi-case families. Within this locus, the programmed cell death 1 gene (PDCD1, also called PD-1) was considered the strongest candidate for association with the disease. Here, we analyzed 2,510 individuals, including members of five independent sets of families as well as unrelated individuals affected with SLE, for single-nucleotide polymorphisms (SNPs) that we identified in PDCD1. We show that one intronic SNP in PDCD1 is associated with development of SLE in Europeans (found in 12% of affected individuals versus 5% of controls; P = 0.00001, r.r. (relative risk) = 2.6) and Mexicans (found in 7% of affected individuals versus 2% of controls; P = 0.0009, r.r. = 3.5). The associated allele of this SNP alters a binding site for the runt-related transcription factor 1 (RUNX1, also called AML1) located in an intronic enhancer, suggesting a mechanism through which it can contribute to the development of SLE in humans.
  •  
5.
  • Wang, Ning, et al. (författare)
  • Serological Assessment for Celiac Disease in IgA Deficient Adults
  • 2014
  • Ingår i: PLOS ONE. - : Public Library of Science. - 1932-6203. ; 9:4, s. 0093180-
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose: Selective immunoglobulin A deficiency is the most common primary immunodeficiency disorder that is strongly overrepresented among patients with celiac disease (CD). IgG antibodies against tissue transglutaminase (tTG) and deamidated gliadin peptides (DGP) serve as serological markers for CD in IgA deficient individuals, although the diagnostic value remains uncertain. The aim of this study was to investigate the prevalence of these markers in a large cohort of IgA deficient adults with confirmed or suspected CD and relate the findings to gluten free diet. Methods: Sera from 488,156 individuals were screened for CD in seven Swedish clinical immunology laboratories between 1998 and 2012. In total, 356 out of 1,414 identified IgA deficient adults agreed to participate in this study and were resampled. Forty-even IgA deficient blood donors served as controls. Analyses of IgG antibodies against tTG and DGP as well as HLA typing were performed and a questionnaire was used to investigate adherence to gluten free diet. Available biopsy results were collected. Results: Out of the 356 IgA deficient resampled adults, 67 (18.8%) were positive for IgG anti-tTG and 79 (22.2%) for IgG anti-DGP, 54 had biopsy confirmed CD. Among the 47 IgA deficient blood donors, 4 (9%) were positive for IgG anti-tTG and 8 (17%) for anti- DGP. Four were diagnosed with biopsy verified CD, however, 2 of the patients were negative for all markers. Sixty-eight of 69 individuals with positive IgG anti-tTG were HLA-DQ2/DQ8 positive whereas 7 (18.9%) of the 37 individuals positive for IgG anti-DGP alone were not. Conclusions: IgG anti- tTG seems to be a more reliable marker for CD in IgA deficient adults whereas the diagnostic specificity of anti-DGP appears to be lower. High levels of IgG antibodies against tTG and DGP were frequently found in IgA deficient adults despite adhering to gluten free diet.
  •  
6.
  •  
7.
  • Pesonen, Erkki, et al. (författare)
  • Mannose-binding lectin as a risk factor for acute coronary syndromes.
  • 2009
  • Ingår i: Annals of Medicine. - : Informa UK Limited. - 1365-2060 .- 0785-3890. ; 41, s. 591-598
  • Tidskriftsartikel (refereegranskat)abstract
    • Background. Mannose-binding lectin (MBL) is a multifunctional protein involved in innate immunity. We tested whether MBL and elevated viral and bacterial antibodies were risk factors for acute coronary events. Design. Controlled cohort study. Methods. A total of 354 patients with unstable angina pectoris (UA) or acute myocardial infarction (AMI) were compared with 334 paired controls. Results. Enterovirus titres were associated with increased risk of UA (odds ratio 10.04, P<0.001) and AMI (odds ratio 3.18, P=0.003), but titres did not correlate with either MBL concentration or genotype. Chlamydia pneumoniae heat shock protein 60 IgG concentrations were also associated with increased risk of UA (odds ratio 1.63, P=0.049). Compared to asymptomatic controls, patients had lower complement C3 serum concentrations (P<0.001), higher MBL serum concentration, and more frequently had MBL genotypes that determined high MBL levels (P<0.001). High MBL genotypes had odds ratios of 1.16 (P=0.010) for UA and 1.12 (P=0.007) for AMI. The elevation of MBL concentrations in the acute phase correlated with MBL concentrations after recovery (r=0.85, P<0.001). Conclusions. Elevated microbial titres, indicating an on-going inflammation, were associated with cardiovascular events. MBL might have a dual role both decreasing susceptibility to infections and increasing the risk of acute coronary syndromes.
  •  
8.
  •  
9.
  • Yuste, Jose, et al. (författare)
  • Impaired opsonization with C3b and phagocytosis of Streptococcus pneumoniae in sera from subjects with defects in the classical complement pathway
  • 2008
  • Ingår i: Infection and Immunity. - 1098-5522. ; 76:8, s. 3761-3770
  • Tidskriftsartikel (refereegranskat)abstract
    • Results from studies using mice deficient in specific complement factors and clinical data on patients with an inherited deficiency of the classical complement pathway component C2 suggest that the classical pathway is vital for immunity to Streptococcus pneumoniae. However, the consequences of defects in classical pathway activity for opsonization with C3b and the phagocytosis of different S. pneumoniae serotypes in human serum are not known, and there has not been a systematic analysis of the abilities of sera from subjects with a C2 deficiency to opsonize S. pneumoniae. Hence, to investigate the role of the classical pathway in immunity to S. pneumoniae in more detail, How cytometry assays of opsonization with C3b and the phagocytosis of three capsular serotypes of S. pneumoniae were performed using human sera depleted of the complement factor C1q or B or sera obtained from C2-deficient subjects. The results demonstrate that, in human serum, the classical pathway is vital for C3b-iC3b deposition onto cells of all three serotypes of S. pneumoniae and seems to be more important than the alternative pathway for phagocytosis. Compared to the results for sera from normal subjects, C3b-iC3b deposition and total anti-S. pneumoniae antibody activity levels in sera obtained from C2(-/-) subjects were reduced and the efficiency of phagocytosis of all three S. pneumoniae strains was impaired. Anticapsular antibody levels did not correlate with phagocytosis or C3b-iC3b deposition. These data confirm that the classical pathway is vital for complement-mediated phagocytosis of S. pneumoniae and demonstrate why subjects with a C2 deficiency have a marked increase in susceptibility to S. pneumoniae infections.
  •  
10.
  • Jönsen, Andreas, et al. (författare)
  • Gene-environment interactions in the aetiology of systemic lupus erythematosus
  • 2007
  • Ingår i: Autoimmunity. - : Informa UK Limited. - 0891-6934 .- 1607-842X. ; 40:8, s. 613-617
  • Tidskriftsartikel (refereegranskat)abstract
    • Systemic lupus erythematosus (SLE) is a disease that displays a multitude of symptoms and a vast array of autoantibodies. The disease course may vary substantially between patients. The current understanding of SLE aetiology includes environmental factors acting on a genetically prone individual during an undetermined time period resulting in autoimmunity and finally surpassing that individual's disease threshold. Genetic differences and environmental factors may interact specifically in the pathogenetic processes and may influence disease development and modify the disease course. Identification of these factors and their interactions in the pathogenesis of SLE is vital in understanding the disease and may contribute to identify new treatment targets and perhaps also aid in disease prevention. However, there are several problems that need to be overcome, such as the protracted time frame of environmental influence, time dependent epigenetic alterations and the possibility that different pathogenetic pathways may result in a similar disease phenotype. This is mirrored by the relatively few studies that suggest specific gene-environment interactions. These include an association between SLE diagnosis and glutathion S-transferase gene variants combined with occupational sun exposure as well as variants of the N-acetyl transferase gene in combination with either aromatic amine exposure or hydralazine. With increased knowledge on SLE pathogenesis, the role of environmental factors and their genetic interactions may be further elucidated.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-10 av 23
Typ av publikation
tidskriftsartikel (19)
bokkapitel (2)
konferensbidrag (1)
recension (1)
Typ av innehåll
refereegranskat (20)
populärvet., debatt m.m. (2)
övrigt vetenskapligt/konstnärligt (1)
Författare/redaktör
Sturfelt, Gunnar (9)
Jönsen, Andreas (4)
Alarcón-Riquelme, Ma ... (3)
Bengtsson, Anders (2)
Gunnarsson, Iva (2)
visa fler...
Svenungsson, Elisabe ... (2)
Jodal, Ulf, 1938 (2)
Svanborg, Catharina (2)
Bjermer, Leif (1)
Segelmark, Mårten (1)
Carlsson, Malin (1)
Gyllensten, Ulf B. (1)
Borrebaeck, Carl (1)
Hameed, S (1)
Lim, SS (1)
Berg, Louise (1)
Pettersson, Åsa (1)
Hellmark, Thomas (1)
Abelson, Anna-Karin (1)
Kozyrev, Sergey V. (1)
Kristjansdottir, Hel ... (1)
Steinsson, Kristjan (1)
Sánchez, Elena (1)
Wojcik, Jerome (1)
D'Alfonso, Sandra (1)
Witte, Torsten (1)
Abderrahim, Hadi (1)
Pons-Estel, Bernardo ... (1)
Gutiérrez, Carmen (1)
Suárez, Ana (1)
González-Escribano, ... (1)
Martin, Javier (1)
Persson, Ulf (1)
Hammarstrom, Lennart (1)
Pesonen, Erkki (1)
Nordmark, Gunnel (1)
Jonsson, T (1)
Isenberg, DA (1)
Weintraub, Andrej (1)
Erlinge, David (1)
Rönnblom, Lars (1)
Harley, John B. (1)
Alarcon, GS (1)
Ramsey-Goldman, R (1)
Kamen, DL (1)
Merrill, JT (1)
Nilsson-Ehle, Peter (1)
Öberg, Fredrik (1)
Werth, VP (1)
visa färre...
Lärosäte
Lunds universitet (21)
Karolinska Institutet (4)
Göteborgs universitet (2)
Uppsala universitet (2)
Linköpings universitet (2)
Örebro universitet (1)
Språk
Engelska (21)
Svenska (2)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (23)
Naturvetenskap (1)
Samhällsvetenskap (1)

År

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy