rs3789604
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 113812320 |
| Gene | AP4B1-AS1, RSBN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3789604 |
| dbSNP (classic) | rs3789604 |
| ClinGen | rs3789604 |
| ebi | rs3789604 |
| HLI | rs3789604 |
| Exac | rs3789604 |
| Gnomad | rs3789604 |
| Varsome | rs3789604 |
| LitVar | rs3789604 |
| Map | rs3789604 |
| PheGenI | rs3789604 |
| Biobank | rs3789604 |
| 1000 genomes | rs3789604 |
| hgdp | rs3789604 |
| ensembl | rs3789604 |
| geneview | rs3789604 |
| scholar | rs3789604 |
| rs3789604 | |
| pharmgkb | rs3789604 |
| gwascentral | rs3789604 |
| openSNP | rs3789604 |
| 23andMe | rs3789604 |
| SNPshot | rs3789604 |
| SNPdbe | rs3789604 |
| MSV3d | rs3789604 |
| GWAS Ctlg | rs3789604 |
| GMAF | 0.1593 |
| Max Magnitude | 0 |
| ? | (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 16175503
]
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 18923449] 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
[PMID 17135225] The 620W allele is the PTPN22 genetic variant conferring susceptibility to RA in a Dutch population.
[PMID 18341666] Polymorphisms in the PTPN22 region are associated with psoriasis of early onset.
[PMID 18466461] Meta-genetic association of rheumatoid arthritis and PTPN22 using PedGenie 2.1.
[PMID 18466531] Case-control association analysis of rheumatoid arthritis with candidate genes using related cases.
[PMID 18466575] 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 19180477] Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations.
[PMID 19638187] Genetic susceptibility to psoriasis: an emerging picture.
[PMID 22396730] 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.
