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rs2295490

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome20
Position388261
GeneTRIB3
is asnp
is mentioned by
dbSNPrs2295490
ebirs2295490
HLIrs2295490
Exacrs2295490
Varsomers2295490
Maprs2295490
PheGenIrs2295490
hapmaprs2295490
1000 genomesrs2295490
hgdprs2295490
ensemblrs2295490
gopubmedrs2295490
geneviewrs2295490
scholarrs2295490
googlers2295490
pharmgkbrs2295490
gwascentralrs2295490
openSNPrs2295490
23andMers2295490
23andMe allrs2295490
SNP Nexus

SNPshotrs2295490
SNPdbers2295490
MSV3drs2295490
GWAS Ctlgrs2295490
GMAF0.1552
Max Magnitude1.3
? (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 18984671OA-icon.png]

[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 20592469OA-icon.png] The pseudokinase tribbles homolog 3 interacts with ATF4 to negatively regulate insulin exocytosis in human and mouse beta cells


GET Evidence
TRIB3-Q84R
aa_change Gln84Arg
aa_change_short Q84R
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.156378
summary



[PMID 23633196] Joint effect of insulin signaling genes on insulin secretion and glucose homeostasis


[PMID 23107043OA-icon.png] 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 25463099OA-icon.png] Joint effect of insulin signaling genes on all-cause mortality