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rs3789604

From SNPedia

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Stabilizedplus
Geno Mag Summary
(G;G) 1.7x increased RA risk
(G;T) 1.5x increased RA risk; 1.4x increased GD risk
(T;T) normal for RA; 1.4x increased GD risk
ReferenceGRCh38 38.1/141
Chromosome1
Position113812320
GeneRSBN1
is asnp
is mentioned by
dbSNPrs3789604
ebirs3789604
HLIrs3789604
Exacrs3789604
Varsomers3789604
Maprs3789604
PheGenIrs3789604
hapmaprs3789604
1000 genomesrs3789604
hgdprs3789604
ensemblrs3789604
gopubmedrs3789604
geneviewrs3789604
scholarrs3789604
googlers3789604
pharmgkbrs3789604
gwascentralrs3789604
openSNPrs3789604
23andMers3789604
23andMe allrs3789604
SNP Nexus

SNPshotrs3789604
SNPdbers3789604
MSV3drs3789604
GWAS Ctlgrs3789604
GMAF0.1593
Max Magnitude
? (G;G) (G;T) (T;T) 28
rs3789604 is associated with increased susceptibility to rheumatoid arthritis, based on a study of ~1,000 Caucasian individuals. The odds ratio is 1.55x for (G;T) heterozygotes and 1.73x for (G;G) homozygotes.[PMID 16175503OA-icon.png]

However, in a Japanese population, the other allele, rs3789604(T), is associated with increased risk (odds ratio 1.45, p=0.0085) for Graves' disease (GD).[PMID 18578611]


[PMID 18923449OA-icon.png] Further genetic evidence for three psoriasis-risk genes: ADAM33, CDKAL1, and PTPN22


[PMID 19438904] Clinical associations of the genetic variants of CTLA-4, Tg, TSHR, PTPN22, PTPN12 and FCRL3 in patients with Graves' disease


[PMID 20510318] Association of PTPN22 Haplotypes with Type 1 Diabetes in the Japanese Population

[PMID 20615141] Association of the Protein Tyrosine Phosphatase Nonreceptor 22 Haplotypes with Autoimmune Thyroid Disease in the Japanese Population

OMIM177900
Desc
Variant
Relatedalso


[PMID 17135225] The 620W allele is the PTPN22 genetic variant conferring susceptibility to RA in a Dutch population.


[PMID 18341666OA-icon.png] Polymorphisms in the PTPN22 region are associated with psoriasis of early onset.


[PMID 18466461OA-icon.png] Meta-genetic association of rheumatoid arthritis and PTPN22 using PedGenie 2.1.


[PMID 18466531OA-icon.png] Case-control association analysis of rheumatoid arthritis with candidate genes using related cases.


[PMID 18466575OA-icon.png] Comparison of the power of haplotype-based versus single- and multilocus association methods for gene x environment (gene x sex) interactions and application to gene x smoking and gene x sex interactions in rheumatoid arthritis.


[PMID 19180477OA-icon.png] Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations.


[PMID 19638187OA-icon.png] Genetic susceptibility to psoriasis: an emerging picture.


[PMID 22396730OA-icon.png] No association of PTPN22 polymorphisms with susceptibility to ocular Behcet's disease in two Chinese Han populations.


[PMID 25073032] Association Between a Gain-of-Function Variant of PTPN22 and Rejection in Liver Transplantation


[PMID 27888068] Associations of single nucleotide polymorphisms of PTPN22 and Ctla4 genes with the risk of allergic rhinitis in a Chinese Han population.