|
rs1800574
|
|
|
0.850 |
GeneticVariation |
BEFREE |
We hypothesized that common variants at the <i>HNF1A</i> locus (rs1169288 [I27L], rs1800574 [A98V]), which are associated with type 2 diabetes susceptibility, may modify age at diabetes diagnosis in individuals with HNF1A-MODY.
|
29895593 |
2018 |
|
rs1800574
|
|
T |
0.850 |
GeneticVariation |
GWASCAT |
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
|
29632382 |
2018 |
|
rs1800574
|
|
|
0.850 |
GeneticVariation |
BEFREE |
The common variants p.I27L (rs1169288), p.A98V (rs1800574) and p.S487N (rs2464196) of the hepatocyte nuclear factor 1-α (HNF1A) gene have been inconsistently associated with impaired glucose tolerance and/or an increased risk of type 2 diabetes mellitus (T2DM).
|
24933231 |
2015 |
|
rs1800574
|
|
|
0.850 |
GeneticVariation |
GWASDB |
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.
|
22325160 |
2012 |
|
rs1800574
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Significant associations between the heterozygote A98V genotype and clinical parameters of insulin metabolism were reported but no relationship with type 2 diabetes was obtained.
|
18777455 |
2008 |
|
rs1800574
|
|
|
0.850 |
GeneticVariation |
BEFREE |
We studied the effect of four common polymorphisms (rs1920792, I27L, A98V and S487N) in and upstream of the HNF-1alpha gene on transcriptional activity in vitro, and their possible association with type 2 diabetes and insulin secretion in vivo.
|
17033837 |
2006 |
|
rs1800574
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Polymorphisms of these genes (Ala45Thr [NEUROD1], Ser199Phe [NEUROG3], and Ala98Val [TCF1]) have been postulated to influence the development of type 2 diabetes.
|
15277395 |
2004 |
|
rs12427353
|
|
|
0.800 |
GeneticVariation |
GWASDB |
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.
|
22885922 |
2012 |
|
rs12427353
|
|
G |
0.800 |
GeneticVariation |
GWASCAT |
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.
|
22885922 |
2012 |
|
rs137853240
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The HNF1A G319S variant is associated with incident type 2 diabetes in Aboriginal Canadians.
|
21208426 |
2011 |
|
rs137853240
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In an Aboriginal Canadian population, a private polymorphism, HNF1A G319S, was associated with increased prevalence of type 2 diabetes.
|
20716378 |
2010 |
|
rs137853240
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The G319S HNF1A variant is associated with an increased risk of type 2 diabetes in the Canadian Oji-Cree population.
|
18586913 |
2008 |
|
rs137853240
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Progress to date in the molecular genetics of T2DM in youth is limited to one population, the Oji-Cree Native Canadians, where the private variant - G319S - a variant of HNF1A strongly predisposes to diabetes in children as well as in adults.
|
17991132 |
2007 |
|
rs137853240
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The ORs for type 2 diabetes were similar ( approximately 5-fold) for subjects with either the presence of HTGW or the private HNF1A G319S mutation.
|
16276364 |
2006 |
|
rs137853240
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The risk of Type 2 diabetes was similar (approximately five-fold increased) for subjects with either the presence of the modified metabolic syndrome or the private HNF1A G319S mutation.
|
16241915 |
2005 |
|
rs137853240
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A common variant, G319S, private to the Oji-Cree population, predisposes to type 2 diabetes, but the role of common HNF1alpha variation in European populations has not been comprehensively assessed.
|
16046319 |
2005 |
|
rs137853240
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Furthermore, G319S had specificity and positive predictive value of 97% and 95%, respectively, for developing type 2 diabetes by age 50.
|
12726923 |
2003 |
|
rs137853240
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The demonstration of a functional consequence for HNF1A G319S provides a mechanistic basis for its strong association with Oji-Cree type 2 diabetes and its unparalleled specificity for diabetes prediction in these people, in whom diabetes presents a significant public health dilemma.
|
11904371 |
2002 |
|
rs137853240
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Because HNF-1alpha is involved in the transcription of several apolipoprotein genes, we tested for an association between the private HNF1A G319S variant and plasma lipoproteins in a sample of 55 unrelated Oji-Cree subjects with type 2 diabetes and 175 unrelated Oji-Cree subjects without type 2 diabetes.
|
10634821 |
2000 |
|
rs137853240
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Among the Oji-Cree of northern Ontario, we previously identified a novel variant in the HNF1A gene, namely G319S, that was strongly associated with type 2 diabetes.
|
10843190 |
2000 |
|
rs137853240
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Disparity between association and linkage analysis for HNF1A G319S in type 2 diabetes in Canadian Oji-Cree.
|
10807546 |
2000 |
|
rs137853240
|
|
A |
0.800 |
SusceptibilityMutation |
CLINVAR |
|
|
|
|
rs1169288
|
|
|
0.780 |
GeneticVariation |
BEFREE |
The Common <i>HNF1A</i> Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY.
|
29895593 |
2018 |
|
rs1169288
|
|
C |
0.780 |
GeneticVariation |
GWASCAT |
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
|
29632382 |
2018 |
|
rs1169288
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Mutation p.T130I was associated with both early-onset and late-onset diabetes and caused downregulated HNF4A expression, whereas HNF1A polymorphisms p.I27L and p.S487N were associated with the age of diagnosis of diabetes.
|
26981542 |
2016 |