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