|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Rare mutations in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4α (HNF-4A), account for ~5% of cases of MODY and more frequent variants in this gene may be involved in multifactorial forms of diabetes.
|
20878384 |
2011 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genotypes for four haplotype tag SNPs were analysed for association with diabetes in a case-control study of 744 unrelated type 2 diabetic patients and 686 normoglycaemic subjects, and for linkage in 148 diabetic families in whom significant linkage to the HNF4alpha region had been shown.
|
15735892 |
2005 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Network-based metaanalysis of four independent microarray studies identified the hepatocyte nuclear factor 4 alpha (HNF4A), a transcription factor associated with gluconeogenesis and diabetes, as a central regulatory hub gene up-regulated in blood of PD patients.
|
25646437 |
2015 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In summary, we have identified a MODY locus on 8p23 that accounts for diabetes in a substantial proportion of MODY cases unlinked to known MODY genes.
|
15111509 |
2004 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report two sisters with childhood onset diabetes who are both heterozygous for the most common mutation in each of two transcription factors, HNF1A, and HNF4A.
|
23551881 |
2013 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in 13 known MODY genes were not present in the 14 Chinese families and they were classified as MODYX.
|
25588466 |
2015 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In contrast to the glucokinase and HNF-1alpha genes, mutations in the HNF-4alpha gene are a relatively uncommon cause of MODY, and our understanding of the MODY1 form of diabetes is based on studies of only a single family, the R-W pedigree.
|
9294105 |
1997 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Association of MODY genetic variants with diabetes incidence at a median of 3 years and measures of 1-year β-cell function, insulinogenic index, and oral disposition index.
|
28453780 |
2017 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Given the key role of the transcription factor HNF1alpha in pancreatic beta-cell function, it can be inferred that impairment of HNF4alpha function by these mutations affects metabolic pathways in pancreatic beta-cells and contributes to development of diabetes.
|
12110948 |
2002 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We also identify specific loci that are targeted for dysregulation of DNA methylation, in particular the hepatocyte nuclear factor 4alpha (HNF4A) gene, a well-known diabetes candidate gene not previously associated with growth restriction in utero, and other loci encoding HNF4A-interacting proteins.
|
20126273 |
2010 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs1884614) and coding region (rs2144908, rs6031551, rs6031552, rs1885088, rs1028583 and rs3818247) were genotyped in 160 subjects without diabetes or metabolic syndrome.
|
21633728 |
2011 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation, Ser159Pro in the NeuroD1/BETA2 gene contributes to the development of diabetes in a Chinese potential MODY family.
|
17440689 |
2007 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Co-segregation with diabetes was noted with the -1009 G/C and -129 T/C in one MODY family.
|
21062274 |
2011 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
For example, the HNF4A c.340C>T (p.Arg114Trp) (GenBank: NM_175914.4) variant associated with diabetes is <10% penetrant by the time an individual is 40 years old.
|
30665703 |
2019 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
HbA1c-based diabetes diagnosis among patients with glucokinase mutation (GCK-MODY) is affected by a genetic variant of glucose-6-phosphatase (G6PC2).
|
22486180 |
2012 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This is the first major study of HNF1B-MODY from India and shows that about 10% of young diabetic subjects with renal abnormalities seen at a tertiary diabetes centre harbor HNF1B gene mutations.
|
25441779 |
2015 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Carrying the minor alleles of the three HNF4A polymorphisms was associated with significantly greater diabetes risk in women carrying the KCNJ11 allele 23K, but not in those who did not carry this allele.
|
17894829 |
2007 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our results and the independent observation of association of SNPs near the P2 promoter with diabetes in a separate study population of Ashkenazi Jewish origin suggests that variant(s) located near or within HNF4A increases susceptibility to type 2 diabetes.
|
15047633 |
2004 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The -79 C/T substitution was present in a MODY family but did not perfectly cosegregate with diabetes.
|
12242469 |
2002 |
|
Diabetes
|
0.100 |
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
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In univariate logistic regression analysis in the HNF1A-MODY group, significant results were found for diabetes duration, fasting glycemia, HbA1c, arterial hypertension, age at the examination, and eGFR.
|
26240958 |
2015 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in HNF4α cause Mature-Onset Diabetes of the Young I (MODYI), a subset of diabetes characterized by diminished GSIS.
|
26792861 |
2016 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, there are minimal data available on MODY gene variants in pregnant women with diabetes from India.
|
28095440 |
2017 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To study the relationship between the GLP-1 receptor gene and NIDDM, linkage of a microsatellite polymorphism flanking the GLP-1 receptor gene with diabetes was investigated in three Caucasian families with MODY and in the nuclear families of 12 NIDDM probands.
|
7958545 |
1994 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this review, we present genes known to cause rare monogenic forms of diabetes with predominant insulin deficiency (MODY - maturity-onset diabetes of the young, MIDD - maternally inherited diabetes with deafness) and uncommon syndromes of severe insulin resistance.
|
16415484 |
2005 |