rs2233290

This variant is located in the TNIP1 gene.

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ClinVar annotation

Benign★☆☆☆
1 submitter
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Research that mentions this SNP (1)

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Risk for myasthenia gravis maps to a 151 Pro→Ala change in TNIP1 and to human leukocyte antigen‐B*08
AssociationN=3,245Peter K. Gregersen et al.(2012)· Annals of Neurology

A two-stage genome-wide association study of 649 early-onset myasthenia gravis patients identified HLA-B*08 as the major genetic risk factor (OR=6.41, p=2.87×10⁻¹¹³) and TNIP1 Pro151Ala (rs2233290, OR=1.92, p=3.4×10⁻⁹) as a novel non-HLA locus. Together with PTPN22 (rs2476601, OR=1.71, p=8.2×10⁻¹⁰), these loci account for 62.9% of population attributable risk, implicating dysregulation of NF-κB signaling pathways in myasthenia gravis pathogenesis.

Traits studied:Autoimmune thyroid diseaseEarly-onset myasthenia gravis (EOMG)PsoriasisRheumatoid arthritisSystemic lupus erythematosusSystemic sclerosisType 1 diabetes
PubMedDOIMetascience Observatory

About TNIP1

This gene encodes an A20-binding protein which plays a role in autoimmunity and tissue homeostasis through the regulation of nuclear factor kappa-B activation. Mutations in this gene have been associated with psoriatic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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