rs2295490
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1 | normal |
| (A;G) | 1.3 | 1.32x increased risk of early-onset type-2 diabetes |
| (G;G) | 1.3 | 1.32x increased risk of early-onset type-2 diabetes |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 388261 |
| Gene | TRIB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2295490 |
| dbSNP (classic) | rs2295490 |
| ClinGen | rs2295490 |
| ebi | rs2295490 |
| HLI | rs2295490 |
| Exac | rs2295490 |
| Gnomad | rs2295490 |
| Varsome | rs2295490 |
| LitVar | rs2295490 |
| Map | rs2295490 |
| PheGenI | rs2295490 |
| Biobank | rs2295490 |
| 1000 genomes | rs2295490 |
| hgdp | rs2295490 |
| ensembl | rs2295490 |
| geneview | rs2295490 |
| scholar | rs2295490 |
| rs2295490 | |
| pharmgkb | rs2295490 |
| gwascentral | rs2295490 |
| openSNP | rs2295490 |
| 23andMe | rs2295490 |
| SNPshot | rs2295490 |
| SNPdbe | rs2295490 |
| MSV3d | rs2295490 |
| GWAS Ctlg | rs2295490 |
| GMAF | 0.1552 |
| Max Magnitude | 1.3 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs2295490 is a SNP in the tribbles homolog 3 TRIB3 gene, also known as Q84R. The (A) allele encodes the Gln (Q), while the (G) allele encodes the Arg (R).
A study involving four different case-control samples comprising a total of 5469 Caucasisans determined that rs2295490(G) was nominally associated with type-2 diabetes (odds ratio 1.17, CI: 1.00-1.36, p = 0.04). When stratified by age of diabetes onset, these carriers had an increased risk of early-onset T2D (OR 1.32, CI: 1.10-1.58, p = 0.002).[PMID 18984671
]
[PMID 19139803] this gain of function mutation may affect insulin signaling and increase the risk of insulin resistance
[PMID 20393693] TRIB3 R84 variant affects glucose homeostasis by altering the interplay between insulin sensitivity and secretion
[PMID 20592469] The pseudokinase tribbles homolog 3 interacts with ATF4 to negatively regulate insulin exocytosis in human and mouse beta cells
[PMID 23633196] Joint effect of insulin signaling genes on insulin secretion and glucose homeostasis
[PMID 23107043] Joint effect of insulin signaling genes on cardiovascular events and on whole body and endothelial insulin resistance.
[PMID 26253791] Infrequent TRIB3 coding variants and coronary artery disease in type 2 diabetes
[PMID 25463099] Joint effect of insulin signaling genes on all-cause mortality
