|
rs137853240
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The influence of exposure to diabetes in utero and the HNF-1α G319S polymorphism on the metabolic phenotype of youth with T2DM at diagnosis is unknown.
|
27087001 |
2016 |
|
rs137853240
|
|
|
0.090 |
GeneticVariation |
BEFREE |
All of the 7 offspring with diabetes have 1 or 2 copies of the G319S polymorphism.
|
21429061 |
2011 |
|
rs137853240
|
|
|
0.090 |
GeneticVariation |
BEFREE |
When participants were stratified by baseline smoking status, HNF1A G319S carriers who were active smokers had increased risk of developing diabetes (OR 6.91 [95% CI 3.38-14.12]), while the association was attenuated to non-significance among non-smokers (1.11 [0.40-3.08]).
|
21208426 |
2011 |
|
rs137853240
|
|
|
0.090 |
GeneticVariation |
BEFREE |
We aimed to investigate whether CRP was mediating the association between HNF1A G319S and type 2 diabetes in an Aboriginal Canadian population with a high prevalence of diabetes.
|
20716378 |
2010 |
|
rs137853240
|
|
|
0.090 |
GeneticVariation |
BEFREE |
A combination of abnormal splicing and reduced activity of the G319S protein may explain the diabetes susceptibility.
|
18586913 |
2008 |
|
rs137853240
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Sigmoidal modeling showed that each dose of the G319S allele accelerated the median age of diabetes onset by about 7 yr.
|
12726923 |
2003 |
|
rs137853240
|
|
|
0.090 |
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
|
|
|
0.090 |
GeneticVariation |
BEFREE |
This makes the HNF1A G319S genotype the most specific predictive genetic test for diabetes in any human population.
|
11286643 |
2001 |
|
rs137853240
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Despite the failure of linkage analysis to identify HNF1A as a determinant of type 2 diabetes, we feel justified in interpreting that G319S has a very important pathogenic role in Oji-Cree diabetes, based upon the highly suggestive association studies.
|
10807546 |
2000 |
|
rs1169288
|
|
|
0.050 |
GeneticVariation |
BEFREE |
HNF1A gene p.I27L</span> SNP might contribute to age at diabetes diagnosis and family inheritance.
|
31109344 |
2019 |
|
rs1169288
|
|
|
0.050 |
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 |
|
rs1169288
|
|
|
0.050 |
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 |
|
rs1169288
|
|
|
0.050 |
GeneticVariation |
BEFREE |
In contrast, 33.3% of patients with type 2 diabetes mellitus and I27L polymorphism in the HNF1alpha gene had no family history of diabetes (p < 0.05).
|
20172480 |
2010 |
|
rs1169288
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The aims of the study was to determine whether two single nucleotide polymorphisms (SNPs) ile27-to-leu and ala98-to-val in the HNF-1alpha gene associate with diabetes, insulin sensitivity as well as beta-cell function.
|
18777455 |
2008 |
|
rs1800574
|
|
|
0.020 |
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 |
|
rs2464196
|
|
|
0.020 |
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 |
|
rs2464196
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Despite its biological inactivity, S487N polymorphism led in combination with E41X to a significant earlier manifestation of diabetes, whereas I27L polymorphism or increased Body Mass Index (BMI) did not.
|
20690076 |
2011 |
|
rs1800574
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The aims of the study was to determine whether two single nucleotide polymorphisms (SNPs) ile27-to-leu and ala98-to-val in the HNF-1alpha gene associate with diabetes, insulin sensitivity as well as beta-cell function.
|
18777455 |
2008 |
|
rs1169305
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Prevalence of the missense mutation Gly574Ser in the hepatocyte nuclear factor-1alpha in Africans with diabetes.
|
11938027 |
2002 |
|
rs1169305
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A 5-nucleotide insertion in intron 1 was present in both diabetic members of a small family, but Gly52Ala, Gly574Ser, and the intron 10 mutation did not segregate with diabetes.
|
10690959 |
2000 |
|
rs483353044
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Following an oral glucose tolerance test in the presence of metformin, carriers of the p.E508K variant with diabetes had a lower maximum insulin peak and total and incremental insulin AUC value as compared with noncarriers with diabetes (<i>P</i> < 0.05).
|
29844095 |
2018 |
|
rs1228534100
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified one missense mutation (G32S) in the INS gene and two mutations (R131Q and R203S) in the HNF1α gene that could be associated with diabetes.
|
27398945 |
2016 |
|
rs753998395
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified one missense mutation (G32S) in the INS gene and two mutations (R131Q and R203S) in the HNF1α gene that could be associated with diabetes.
|
27398945 |
2016 |
|
rs1057520504
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also observed cosegregation with diabetes of the Arg263His coding region mutation in eight members of one MODY family, whereas it was absent in nondiabetic subjects of this family.
|
19336507 |
2009 |
|
rs137853247
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Of these, three variants (-8 G > A, -128 T > G and IVS2 + 21 G > A) were not observed in 80 healthy controls and one of them (-8 G > A) was not reported previously and the two promoter variants co-segregated with diabetes.
|
16834925 |
2006 |