rs9303277

This is a intron variant variant in the IKZF3 gene.

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GWAS Catalog Trait Associations (2)

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

primary biliary cirrhosis

Cordell HJ et al. “International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.” Nature Communications 6:8019 (2015)
Allele T
OR 1.23
p 3.0e-11
N 13,239
Meta-analysisLarge GWAS
European
Kawashima M et al. “Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.” Human Molecular Genetics 26(3):650-659 (2017)
Allele T
OR 1.43
p 8.0e-11
N 2,886
Large GWAS
East Asian

biliary liver cirrhosis

Liu X et al. “Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.” Nature Genetics 42(8):658-60 (2010)
Allele T
OR 1.38
p 2.0e-9
N 1,398
Large GWAS
European
Nakamura M et al. “Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.” American Journal of Human Genetics 91(4):721-8 (2012)
Allele T
OR 1.44
p 4.0e-9
N 963
Small GWAS
East Asian
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Research that mentions this SNP (2)

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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
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Allergy and glioma risk: Test of association by genotype
AssociationN=5,548Sara E. Dobbins et al.(2011)· International Journal of Cancer

Case-control genome-wide association study of 1,878 glioma cases and 3,670 controls examining associations between asthma/allergy susceptibility variants and glioma risk. SNP rs7216389 at 17q21 (ORMDL3) was significantly associated with increased glioma risk (OR=1.10, 95% CI: 1.01-1.19, P=0.022), providing genetic evidence for a positive association between asthma susceptibility and glioma risk, contrary to epidemiological studies reporting inverse associations.

Traits studied:AsthmaAtopic dermatitisAtopy/AllergyEczemaEosinophil countGliomaIgE levels
PubMedDOIMetascience Observatory

About IKZF3

This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]

View all IKZF3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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