rs17728338

This is a downstream gene variant variant.

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GWAS Catalog Trait Associations (2)

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

psoriasis

Nair RP et al. “Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.” Nature Genetics 41(2):199-204 (2009)
Allele A
OR 1.59
p 1.0e-20
N 2,759
Large GWAS
European
Yin X et al. “Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.” Nature Communications 6:6916 (2015)
Allele A
OR 1.60
p 6.0e-20
N 13,816
Meta-analysisLarge GWAS
multi-ancestry

cutaneous psoriasis measurement, psoriasis

Stuart PE et al. “Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture.” American Journal of Human Genetics 97(6):816-36 (2015)
Allele A
OR 1.56
p 2.0e-14
N 6,297
Large GWAS
European
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Research that mentions this SNP (1)

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Replication of the association between the C8orf13–BLK region and systemic lupus erythematosus in a Japanese population
ReviewIkue Ito et al.(2009)· Arthritis &amp; 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
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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