rs33980500
This is a variant in the TRAF3IP2 gene that changes a aspartate to an asparagine.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
psoriasis
psoriatic arthritis
psoriasis vulgaris
▶ClinVar annotation
Candidiasis, familial, 8 (CANDF8); Psoriasis 13, susceptibility to; not specified
View on ClinVar →▶Research that mentions this SNP (3)
▶Common variants of ZNF750, RPTOR and TRAF3IP2 genes and psoriasis riskAssociationN=1,034Dębniak T. et al.(2014)· Archives of Dermatological Research
A Polish case-control study (n=1,034) found that TRAF3IP2 variant rs33980500 (T allele) is significantly associated with increased psoriasis risk (OR=2.5, p=0.0179), with two risk haplotypes carrying this allele showing ORs of 2.7 and 1.8. The T allele of rs33980500 was also associated with pustular psoriasis (OR=1.2, p=0.0109), and rs13190932 was associated with severe psoriasis (OR=2.7, p=0.01266). No significant associations were found for ZNF750 or RPTOR variants with psoriasis.
▶TRAF3IP2 gene and systemic lupus erythematosus: association with disease susceptibility and pericarditis developmentAssociationN=517Carlo Perricone et al.(2013)· Immunogenetics
A case-control association study of 239 Italian SLE patients and 278 controls identified associations between TRAF3IP2 gene polymorphisms (rs33980500, rs13193677) and systemic lupus erythematosus susceptibility (OR=1.71, P=0.021 and OR=1.73, P=0.046 respectively). All three TRAF3IP2 SNPs studied were significantly associated with pericarditis development in SLE patients, with rs33980500 showing the strongest association (OR=2.59, P=0.002).
▶A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiencyFunctionalN=41Hong-Ying Wang et al.(2010)· Human Mutation
This paper describes the development of a custom 148-gene resequencing microarray chip (Hyper-IgM/CVID chip) for mutation screening in patients with antibody deficiency disorders. The authors identified disease-causing mutations in known genes (CD40LG, AICDA, IKBKG, TNFRSF13B) and discovered rare disease-associated variants in TRAF3IP2 (rs33980500:G>A with OR>2 and rs13190932:C>T with OR>2) in 41% of screened patients with Hyper-IgM or CVID.
About TRAF3IP2
This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009]
View all TRAF3IP2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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