|
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 |
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 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 |
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 |
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 |
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 |
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 |
Disparity between association and linkage analysis for HNF1A G319S in type 2 diabetes in Canadian Oji-Cree.
|
10807546 |
2000 |
|
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 |
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 |
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 |
In an Aboriginal Canadian population, a private polymorphism, HNF1A G319S, was associated with increased prevalence of type 2 diabetes.
|
20716378 |
2010 |
|
rs2464196
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The rs2259820_T (1.14 (1.03-1.26); P = 0.011) and rs2464196_C (1.12 (1.02-1.24); P = 0.024) were associated with type 2 diabetes mellitus (T2DM), while the rs2393791_T (1.14 (1.01-1.28); P = 0.032), rs7310409_G (1.16 (1.03-1.30); P = 0.013), and rs2464196_AG+GG (1.25 (1.05-1.49); P = 0.012) were implicated in hypertension.
|
25057215 |
2014 |
|
rs2464196
|
|
|
0.050 |
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 |
|
rs2464196
|
|
|
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 |
|
rs2464196
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Direct sequencing of the ten exons and flanking introns of the gene in these subjects identified eight nucleotide substitutions including two amino acid changes, Ile-27-Leu and Ser-487-Asn, the frequencies of which were not significantly different in subjects with early-onset NIDDM and nondiabetic subjects.
|
9621514 |
1998 |
|
rs2464196
|
|
|
0.050 |
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 |
|
rs1057520504
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of PTPN22 polymorphisms in the MODY patients was similar to those in geographically matched healthy populations, with the exception of c.788G>A, the minor allele frequency of which was significantly elevated in the Czech hepatocyte nuclear factor 1-α (HNF1A) MODY patients [odds ratio (OR) 4.8, 95% confidence interval (CI) 2.2-10.7] and the Brazilian MODY patients (OR 8.4, 95% CI 1.8-39.1).
|
25896041 |
2015 |
|
rs1060499866
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The HNF1A variant p.Ala180Val does not seem to cause MODY3, although it may confer risk for type 2 diabetes mellitus.
|
28934671 |
2017 |
|
rs1183910
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We confirm previous GWAS findings, namely that the minor rs1183910 A allele is associated with an increased risk of developing type 2 diabetes (p(trend) = 0.003), decreased levels of C-reactive protein (CRP; p(trend) = 6 × 10(-76)) and γ-glutamyltransferase (p(trend) = 4 × 10(-48)), and increased levels of total cholesterol (p(trend) = 3 × 10(-10)) and LDL-cholesterol (p(trend) = 3 × 10(-11)).
|
24442509 |
2014 |
|
rs137853238
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A missense mutation of R272H (replacement of Arg by His in codon 272) in the DNA binding domain of HNF-1 alpha was found in a subject who developed IDDM 1 year after diagnosis of NIDDM at 8 years of age.
|
9313763 |
1997 |
|
rs137853243
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MODY associated with two novel hepatocyte nuclear factor-1alpha loss-of-function mutations (P112L and Q466X).
|
11162430 |
2000 |
|
rs2259820
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs2259820_T (1.14 (1.03-1.26); P = 0.011) and rs2464196_C (1.12 (1.02-1.24); P = 0.024) were associated with type 2 diabetes mellitus (T2DM), while the rs2393791_T (1.14 (1.01-1.28); P = 0.032), rs7310409_G (1.16 (1.03-1.30); P = 0.013), and rs2464196_AG+GG (1.25 (1.05-1.49); P = 0.012) were implicated in hypertension.
|
25057215 |
2014 |
|
rs2393791
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs2259820_T (1.14 (1.03-1.26); P = 0.011) and rs2464196_C (1.12 (1.02-1.24); P = 0.024) were associated with type 2 diabetes mellitus (T2DM), while the rs2393791_T (1.14 (1.01-1.28); P = 0.032), rs7310409_G (1.16 (1.03-1.30); P = 0.013), and rs2464196_AG+GG (1.25 (1.05-1.49); P = 0.012) were implicated in hypertension.
|
25057215 |
2014 |
|
rs372624970
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also identified 2 novel missense mutations that segregated with type 2 diabetes in 1 family each: lysine for glutamic acid substitution at codon 619 in exon 10 (E619K), and an arginine for threonine substitution at codon 537 in exon 8 (R537T) in a second family.
|
9626139 |
1998 |