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        <r:String xml:lang="en">Genotype data from: "Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling."</r:String>
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      <r:Creator>
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          <r:String xml:lang="sv">Uppsala universitet</r:String>
          <r:String xml:lang="en">Uppsala University</r:String>
        </r:PublisherName>
      </r:Publisher>
      <r:Publisher>
        <r:PublisherName>
          <r:String xml:lang="sv">Uppsala universitet</r:String>
          <r:String xml:lang="en">Uppsala University</r:String>
        </r:PublisherName>
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      <r:PublicationDate>
        <r:SimpleDate>2020-11-16</r:SimpleDate>
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      <r:InternationalIdentifier>
        <r:IdentifierContent>10.17044/SCILIFELAB.12901388</r:IdentifierContent>
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      <r:Content xml:lang="en">This data contains genotype data from the GlobalScreeningArray and imputed genotypes from 303 healthy blood donors, generated within a project to investigate pQTLs regulating interferon receptor responses.
Results are published in Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling (https://doi.org/10.1371/journal.pgen.1009199)

Abstract:Interferons (IFNs) are cytokines that are central to the host defence 
against viruses and other microorganisms. If not properly regulated, 
IFNs may contribute to the pathogenesis of inflammatory autoimmune, or 
infectious diseases. To identify genetic polymorphisms regulating the 
IFN system we performed an unbiased genome-wide protein-quantitative 
trait loci (pQTL) mapping of cell-type specific type I and type II IFN 
receptor levels and their responses in immune cells from 303 healthy 
individuals. Seven genome-wide significant (p &lt; 5.0E-8) pQTLs were 
identified. Two independent SNPs that tagged the multiple sclerosis 
(MS)-protective HLA class I alleles A*02/A*68 and B*44, respectively, 
were associated with increased levels of IFNAR2 in B and T cells, with 
the most prominent effect in IgD–CD27⁺ memory B 
cells. The increased IFNAR2 levels in B cells were replicated in cells 
from an independent set of healthy individuals and in MS patients. 
Despite increased IFNAR2 levels, B and T cells carrying the 
MS-protective alleles displayed a reduced response to type I IFN 
stimulation. Expression and methylation-QTL analysis demonstrated 
increased mRNA expression of the pseudogene HLA-J in B cells 
carrying the MS-protective class I alleles, possibly driven via 
methylation-dependent transcriptional regulation. Together these data 
suggest that the MS-protective effects of HLA class I alleles are 
unrelated to their antigen-presenting function, and propose a previously
 unappreciated function of type I IFN signalling in B and T cells in MS 
immune-pathogenesis.</r:Content>
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        <r:Subject xml:lang="sv" controlledVocabularyID="3" controlledVocabularyName="Standard för svensk indelning av forskningsämnen 2025">Medicin och hälsovetenskap</r:Subject>
        <r:Subject xml:lang="en" controlledVocabularyID="10605" controlledVocabularyName="Standard för svensk indelning av forskningsämnen 2025">Immunology</r:Subject>
        <r:Subject xml:lang="sv" controlledVocabularyID="10605" controlledVocabularyName="Standard för svensk indelning av forskningsämnen 2025">Immunologi</r:Subject>
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