SwePub
Tyck till om SwePub Sök här!
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Söderkvist Peter 1953 ) ;pers:(Lindblad Toh Kerstin);pers:(Bianchi Matteo)"

Sökning: WFRF:(Söderkvist Peter 1953 ) > Lindblad Toh Kerstin > Bianchi Matteo

  • Resultat 1-2 av 2
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Dahlqvist, Johanna, 1979-, et al. (författare)
  • Identification and functional characterization of a novel susceptibility locus for small vessel vasculitis with MPO-ANCA
  • 2022
  • Ingår i: Rheumatology. - Oxford, United Kingdom : Oxford University Press (OUP). - 1462-0324 .- 1462-0332. ; 61:8
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective To identify and characterize genetic loci associated with the risk of developing ANCA-associated vasculitides (AAV). Methods Genetic association analyses were performed after Illumina sequencing of 1853 genes and subsequent replication with genotyping of selected single nucleotide polymorphisms in a total cohort of 1110 Scandinavian cases with granulomatosis with polyangiitis or microscopic polyangiitis, and 1589 controls. A novel AAV-associated single nucleotide polymorphism was analysed for allele-specific effects on gene expression using luciferase reporter assay. Results PR3-ANCA(+) AAV was significantly associated with two independent loci in the HLA-DPB1/HLA-DPA1 region [rs1042335, P = 6.3 x 10(-61), odds ratio (OR) 0.10; rs9277341, P = 1.5 x 10(-44), OR 0.22] and with rs28929474 in the SERPINA1 gene (P = 2.7 x 10(-10), OR 2.9). MPO-ANCA(+) AAV was significantly associated with the HLA-DQB1/HLA-DQA2 locus (rs9274619, P = 5.4 x 10(-25), OR 3.7) and with a rare variant in the BACH2 gene (rs78275221, P = 7.9 x 10(-7), OR 3.0), the latter a novel susceptibility locus for MPO-ANCA(+) granulomatosis with polyangiitis/microscopic polyangiitis. The rs78275221-A risk allele reduced luciferase gene expression in endothelial cells, specifically, as compared with the non-risk allele. Conclusion We identified a novel susceptibility locus for MPO-ANCA(+) AAV and propose that the associated variant is of mechanistic importance, exerting a regulatory function on gene expression in specific cell types.
  •  
2.
  • Eriksson, Daniel, et al. (författare)
  • Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison’s disease in Sweden
  • 2018
  • Ingår i: Scientific Reports. - : Nature Publishing Group. - 2045-2322. ; 8:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Autoimmune Addison's disease (AAD) is the predominating cause of primary adrenal failure. Despite its high heritability, the rarity of disease has long made candidate-gene studies the only feasible methodology for genetic studies. Here we conducted a comprehensive reinvestigation of suggested AAD risk loci and more than 1800 candidate genes with associated regulatory elements in 479 patients with AAD and 2394 controls. Our analysis enabled us to replicate many risk variants, but several other previously suggested risk variants failed confirmation. By exploring the full set of 1800 candidate genes, we further identified common variation in the autoimmune regulator (AIRE) as a novel risk locus associated to sporadic AAD in our study. Our findings not only confirm that multiple loci are associated with disease risk, but also show to what extent the multiple risk loci jointly associate to AAD. In total, risk loci discovered to date only explain about 7% of variance in liability to AAD in our study population. 
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-2 av 2
Typ av publikation
tidskriftsartikel (2)
Typ av innehåll
refereegranskat (2)
Författare/redaktör
Lindblad-Toh, Ke... (2)Ta bort avgränsningen
Rönnblom, Lars (2)
Söderkvist, Peter, 1 ... (2)
Rantapää-Dahlqvist, ... (2)
Bianchi, Matteo (2)Ta bort avgränsningen
Meadows, Jennifer (2)
visa fler...
Hultin-Rosenberg, Li ... (2)
Nordin, Jessika (2)
Eriksson, Daniel (1)
Segelmark, Mårten (1)
Jonsson, R (1)
Kozyrev, Sergey V. (1)
Landegren, Nils, 198 ... (1)
Kämpe, Olle (1)
Dahlqvist, Johanna, ... (1)
Pielberg, Gerli (1)
Andersson, Göran (1)
Tandre, Karolina (1)
Eloranta, Maija-Leen ... (1)
Bruchfeld, Annette (1)
Omdal, R (1)
Hallgren, Åsa (1)
Bensing, Sophie (1)
Gunnarsson, I (1)
Ekman, Diana (1)
Sennblad, Bengt (1)
Dahlqvist, Per (1)
Baslund, B (1)
Ekwall, Olov, 1968 (1)
Herlitz, Hans, 1946 (1)
Pullerits, Rille, 19 ... (1)
Knight, Ann (1)
Eriksson, Per, 1958- (1)
Hulting, Anna-Lena (1)
Karlsson, Åsa (1)
Hellbacher, Erik (1)
Murén, Eva (1)
Wahlberg, Jeanette, ... (1)
Ohlsson, Sophie (1)
Mohammad, Aladdin J. (1)
Berglin, Ewa, MD, Ph ... (1)
Stegmayr, Bernd, 194 ... (1)
Palm, O (1)
Haukeland, H. (1)
Svärd, Anna (1)
Soderbergh, A. (1)
Pielberg Rosengren, ... (1)
Palm, Øyvind (1)
Dalin, Frida, 1984- (1)
Skov, Jakob (1)
visa färre...
Lärosäte
Göteborgs universitet (2)
Umeå universitet (2)
Uppsala universitet (2)
Linköpings universitet (2)
Karolinska Institutet (2)
Stockholms universitet (1)
visa fler...
Örebro universitet (1)
Lunds universitet (1)
Sveriges Lantbruksuniversitet (1)
visa färre...
Språk
Engelska (2)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (2)

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