Expressive

rs11079784 - KPNB1-DT

Magnitude 2.2 · 3 studies on file

Reported associations

  • A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility - Unknown journal (n.d.) · Unknown authors · PubMed 35545683

    ABSTRACT: Background Over 200 genetic loci have been associated with multiple sclerosis (MS) explaining ~ 50% of its heritability, suggesting that additional mechanisms may account for the "missing heritability" phenomenon. Objective To analyze a large cohort of Italian individuals to identify markers associated with MS with potential functional impact in the disease. Methods We studied 2571 MS and 3234 healthy controls (HC) of continental Italian origin. Discovery phase included a genome wide association study (1727 MS, 2258 HC), with SNPs selected according to their association in the Italian cohort only or in a meta-analysis of signals with a cohort of European ancestry (4088 MS, 7144 HC). Top associated loci were then tested in two Italian cohorts through array-based genotyping

  • Multiple Sclerosis Genomic Map implicates peripheral immune cells & microglia in susceptibility - Unknown journal (n.d.) · Unknown authors · PubMed 31604244

    ABSTRACT: We analyzed genetic data of 47,429 multiple sclerosis (MS) and 68,374 control subjects and establish a reference map of the genetic architecture of MS that includes 200 autosomal susceptibility variants outside the major histocompatibility complex (MHC), one chromosome X variant, and 32 within the extended MHC. We used an ensemble of methods to prioritize 551 putative susceptibility genes, that implicate multiple innate and adaptive pathways distributed across the cellular components of the immune system. Using expression profiles from purified human microglia, we observe enrichment for MS genes in these brain-resident immune cells, suggesting that these may have a role in targeting an autoimmune process to the central nervous system, although MS is most likely initially triggere

  • The phenotypic and genetic association between endometriosis and immunological diseases - Unknown journal (n.d.) · Unknown authors · PubMed 40262193

    ABSTRACT: Abstract STUDY QUESTION Is there an increased risk of immunological diseases among endometriosis patients, and does a shared genetic basis contribute to this risk? SUMMARY ANSWER Endometriosis patients show a significantly increased risk of autoimmune, autoinflammatory, and mixed-pattern diseases, including rheumatoid arthritis, multiple sclerosis, coeliac disease, osteoarthritis, and psoriasis, with genetic correlations between endometriosis and osteoarthritis, rheumatoid arthritis, and multiple sclerosis, and a potential causal link to rheumatoid arthritis. WHAT IS KNOWN ALREADY The epidemiological evidence for an increased risk of immunological diseases among women with endometriosis is limited in scope and has varied in robustness due to the opportunity for biases. The presen

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.