rs7708392

This is a intron variant variant in the TNIP1 gene.

▶

GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

systemic lupus erythematosus

Gateva V et al. “A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.” Nature Genetics 41(11):1228-33 (2009)

Allele C

OR 1.27

p 4.0e-13

N 9,169

Large GWAS

European

Alarcón-Riquelme ME et al. “Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture.” Arthritis & Rheumatology (hoboken, N.j.) 68(4):932-43 (2016)

Allele C

OR 1.76

p 2.0e-11

N 3,710

Large GWAS

Hispanic or Latin American, Native American

eosinophil count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.02

p 2.0e-11

N 485,659

Major Consortium StudyLarge GWAS

multi-ancestry

▶

Research that mentions this SNP (1)

▶

Replication of the association between the C8orf13–BLK region and systemic lupus erythematosus in a Japanese population

ReviewIkue Ito et al.(2009)· Arthritis & Rheumatism

This comprehensive review examines genetic associations in type I interferon-related signaling pathways across multiple autoimmune diseases. The authors review evidence linking dysregulated interferon alpha (IFNα) signaling to systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and other autoimmune conditions, identifying multiple susceptibility genes including IFIH1, IRF5, STAT4, TYK2, BLK, BANK1, FCGR2A, and TREX1 with well-replicated associations and functional relevance to IFN pathway dysfunction.

Traits studied:Autoimmune Thyroid DiseaseCrohn's DiseaseDermatomyositisGiant Cell ArteritisGraves' DiseaseInflammatory Bowel DiseaseJuvenile Idiopathic ArthritisLupus NephritisMicroscopic PolyangiitisMultiple SclerosisPrimary Anti-Phospholipid SyndromePrimary Sjögren's SyndromePsoriasisRheumatoid ArthritisSclerodermaSystemic Lupus ErythematosusType 1 DiabetesUlcerative ColitisWegener's Granulomatosis

PubMed DOI Metascience 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]