|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
GWASCAT |
Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.
|
30718926 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
HNF1A is a gene coding for the transcription factor HNF1-α, mutated in some forms of MODY and type 2 diabetes mellitus characterized by a strong genetic component.
|
30963309 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HNF4A gene cause MODY1 and are associated with an increased risk of Type 2 diabetes mellitus.
|
30862908 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A genome-wide association study reported FITM2-R3H domain containing like-HNF4A locus to be associated with type 2 diabetes (T2DM) in East Asian populations.
|
30020828 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
Biomarker
|
disease |
BEFREE |
However, positivity for ZnTA can be used as a negative MODY pre-diagnostic criterion even in the region of Central and East Europe, where other islet cell autoantibodies are common in MODY patients.
|
30377089 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
Biomarker
|
disease |
BEFREE |
Considering a strong association between HNF4A deregulation and increased risk of T2DM, our findings suggest that HNF4α may act as a critical converging point linking hyperprocoagulant condition to VEGF resistance in diabetic ECs, and repression of FLK1 expression by thrombin-induced HNF4α mediates, at least partially, the vascular dysfunction caused by T2DM.
|
30873661 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mean C-peptide at diagnosis was higher for HNF4A-MODY than for T1D (1.8 vs 0.9 ng/mL; P < 0.01); 36.4% of patients with HNF4A-MODY and 65.7% of patients with HNF1B-MODY were treated with insulin, whereas 20.5% and 8.6% received oral antidiabetics only (P < 0.05 and P < 0.01 vs T2D).
|
30535056 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
GWASCAT |
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
|
31118516 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Meta-analysis showed only rs266729 and rs17300539 of ADIPOQ, and rs1884613, rs2144908, and rs4810424 of HNF4A were significantly associated with T2D risk.
|
30860284 |
2019 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
HNF4α is a culprit gene product for a monogenic and dominantly-inherited form of diabetes, referred to as MODY1 (Maturity Onset Diabetes of the Young type 1).
|
30648609 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This mutation was also identified in another proband from the autosomal dominant T2D family without mutation in known MODY genes and was segregated with diabetes.
|
29767246 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.
|
30054458 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
GWASCAT |
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
|
29632382 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Most (6/7) patients with HNF4A variants rapidly failed TODAY treatment across study arms (hazard ratio = 5.03, P = 0.0002), while none with GCK variants failed treatment.ConclusionThe finding of 4.5% of patients with monogenic diabetes in an overweight/obese cohort of children and adolescents with T2D suggests that monogenic diabetes diagnosis should be considered in children and adolescents without diabetes-associated autoantibodies and maintained C-peptide, regardless of BMI, as it may direct appropriate clinical management.
|
29758564 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.
|
28242437 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report that the HMG20A (rs7178572) and HNF4A (rs4812829) variants that have previously shown a strong association with T2DM in Asian Indians also contributes significant risk to GDM in this population.
|
28190082 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
GWASCAT |
Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.
|
28869590 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The T2DM association in FITM2-R3HDML-HNF4A (rs3212183; P = .0002; OR = 1.19 [1.09-1.30]) was independent from the East Asian lead SNP (rs6017317), which did not associate with T2DM in American Indians.
|
27862917 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
Biomarker
|
disease |
BEFREE |
The results confirm that MODY is under-diagnosed, particularly in individuals presenting with early onset diabetes and clinically labeled as type 2 diabetes; thus, sequencing of all monogenic diabetes genes should be routinely considered in such individuals.
|
29207974 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus, the aim of the present study was to evaluate the frequency and relationship of the T130I variant in the HNF4A gene with risk factors for developing T2D in eleven indigenous groups from Mexico.
|
28688048 |
2017 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hepatocyte nuclear factor 4α (HNF4α) has an important role in pancreatic β-cells, and mutations of the human <i>HNF4A</i> gene cause a type of maturity-onset diabetes of the young (MODY1).
|
28364040 |
2017 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene.
|
28458902 |
2017 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Fainting Fanconi syndrome clarified by proxy: a case report.
|
28693455 |
2017 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.
|
28242437 |
2017 |