rs11728485 - ANK2, ANK2-AS1

Magnitude 2.0 · 1 study on file

Reported associations

• Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling - Unknown journal (n.d.) · Unknown authors · PubMed 33104735

  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 < 5.0E-8) pQTLs were identified. Two independent SNPs that tagged the multiple sclerosis (MS)-protective HLA class I alleles A02/A68 and B*44, respectively, were associated with increased levels of IFNAR2 in B and T cells, with the most prominent effect

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