rs10951042 - CARD11 - SDK1-AS1

Magnitude 2.2 · 1 study on file

Reported associations

  • 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


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • MS genetic risk and screening strategy Moderate

    Variant affects CARD11 and SDK1-AS1 immune signaling, strongly associated with MS (OR 1.102, p<1e-18)

Screening

  • baseline neurological assessment Moderate

    Variant affects immune genes implicated in MS, warranting baseline status for early detection if affected

    obtain baseline exam to establish neurological baseline