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rs2230926

Chromosome : 6 , Position: 137874929

Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.

Reference Allele: T

Alternative Alleles: G, C

Associated Genes

TNFAIP3

HEBP2

IFNGR1

PERP

ARFGEF3

PBOV1

OLIG3

Traits

Trait	Variant	PMID	Author (year)
Systemic lupus erythematosus	G	Am J Hum Genet	Yang W (2012)
Systemic lupus erythematosus [Chinese]	G	Nat Genet	Morris DL (2016)
Systemic lupus erythematosus [EA]	G	Nat Genet	Morris DL (2016)

Summary

rs2230926, also known as c.380T>G, p.Phe127Cys and F127C, is a SNP in the TNFAIP3 gene on chromosome 6. The tumor necrosis factor alpha-induced protein 3 (TNFAIP3) gene encodes the A20 protein, a key molecule in numerous immunologic and other processes due to it’s role in controlling rheumatoid arthritis for rs2230926(G;G) [SLE) and rs2230926.[SLE) among individuals of European ancestry.[Sj√∂gren’s syndrome patients, the rs2230926(G) allele more than doubles the risk of primary Sjogren’s Syndrome-associated Non-Hodgkin Lymphoma, according to a study which replicated the initial report in both UK and French patient cohorts of ~500 patients. The meta-analysis of the UK and French cohorts confirmed the initial finding, with odds ratios of 2.48 (CI: 1.87 – 3.28, p=0.0037) and 2.60, (CI: 1.91 – 3.53, p=0.0031), respectively.[PMID 26338037]

[PMID 19774492] A single-nucleotide polymorphism of the TNFAIP3 gene is associated with systemic lupus erythematosus in Chinese Han population

[PMID 20112363] The association of a nonsynonymous single-nucleotide polymorphism in TNFAIP3 with systemic lupus erythematosus and rheumatoid arthritis in the Japanese population

[PMID 20617138] Association of TNFAIP3 Polymorphism with Susceptibility to Systemic Lupus Erythematosus in a Japanese Population

[PMID 21208380] The association between BANK1 and TNFAIP3 gene polymorphisms and systemic lupus erythematosus: a meta-analysis

[PMID 19165918] Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.

[PMID 19169254] Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.

[PMID 19387456] Meta-analysis and imputation identifies a 109 kb risk haplotype spanning TNFAIP3 associated with lupus nephritis and hematologic manifestations.

[PMID 19417005] Combined effects of three independent SNPs greatly increase the risk estimate for RA at 6q23.

[PMID 19439038] Complex genetic association of 6q23 with autoimmune rheumatic conditions.

[PMID 20169177] Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus.

[PMID 21326317] Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases.

[PMID 22113471] TNFAIP3 gene polymorphisms are associated with response to TNF blockade in psoriasis.

[PMID 22402800] Associations between TNFAIP3 gene polymorphisms and rheumatoid arthritis: a meta-analysis.

[PMID 24023622] Analysis of Gender Differences in Genetic Risk: Association of TNFAIP3 Polymorphism with Male Childhood-Onset Systemic Lupus Erythematosus in the Japanese Population

[PMID 24159176] Germline and somatic genetic variations of TNFAIP3 in lymphoma complicating primary Sjogren’s syndrome

[PMID 23582631] Pathway analysis of genome-wide association studies on rheumatoid arthritis

[PMID 22488580] Brief report: candidate gene study in systemic sclerosis identifies a rare and functional variant of the TNFAIP3 locus as a risk factor for polyautoimmunity.

[PMID 22924496] Associations between TNFAIP3 gene polymorphisms and systemic lupus erythematosus: a meta-analysis.

[PMID 25674272] TNFAIP3 rs2230926 polymorphisms in rheumatoid arthritis of southern Chinese Han population: a case-control study

[PMID 25806576] The polymorphisms of tumor necrosis factor-induced protein 3 gene may contribute to the susceptibility of chronic primary immune thrombocytopenia in Chinese population

[PMID 25337792] Genetic association study of TNFAIP3, IFIH1, IRF5 polymorphisms with polymyositis/dermatomyositis in Chinese Han population

[PMID 26338037] Germline variation of TNFAIP3 in primary Sj√∂gren’s syndrome-associated lymphoma

[PMID 26846592] Single nucleotide polymorphisms of TNFAIP3 are associated with systemic lupus erythematosus in Han Chinese population.

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