Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease GWASCAT Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926 2019
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE This study was aimed to assess the association of the two single nucleotide polymorphisms (SNPs) near P2 promoter (rs1884614 and rs2144908) of hepatocyte nuclear factor-4alpha (HNF4A) with insulin secretion index and type 2 diabetes in Thais. 17805472 2007
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
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
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE Considering a strong association between human HNF4A polymorphisms and increased risk of type 2 diabetes our current findings suggest that downregulation of AGXT2 and subsequent impairment in metabolism of dimethylarginines and BAIB caused by HNF4α deficiency might contribute to development of cardiovascular complications in diabetic patients. 27752141 2016
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE Prolonged episodes of hypoglycaemia in HNF4A-MODY mutation carriers with IGT. Evidence of persistent hyperinsulinism into early adulthood. 27552834 2016
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE We review recent studies that suggest that common MODY gene variation contributes modestly to the heritability of type 2 diabetes. 17425917 2007
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE In conclusion, a rare, novel mutation that disrupts a protein binding site in the pancreatic HNF4A promoter associates with late-onset diabetes. 16731855 2006
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE In conclusion, subjects with HNF4 alpha P2 variants and haplotypes have been shown to have a higher insulin resistance and are therefore at a higher risk for developing type 2 diabetes mellitus. 21633728 2011
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
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
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE Several studies have identified evidence for linkage between type 2 diabetes and the regions on chromosomes 12 and 20 containing the maturity-onset diabetes of the young (MODY) genes, hepatocyte nuclear factor-1alpha (HNF-1alpha) and HNF-4alpha. 10690901 2000
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE Our aim was to determine the prevalence of the most common MODY genes in Italian families with early-onset Type II (non-insulin-dependent) diabetes mellitus. 11692182 2001
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE The maturity-onset diabetes of the young (MODY), an autosomal dominant form of non-insulin dependent diabetes mellitus (NIDDM), is caused by mutations in the glucokinase (GK, MODY 2) and in the hepatocyte nuclear factor 1a (MODY 3) and 4a (MODY 1) genes. 10694920 1998
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE Our data suggest that common variants in several MODY genes play a modest role in type 2 diabetes susceptibility. 16936201 2006
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE Effect of common polymorphisms in the HNF4alpha promoter on susceptibility to type 2 diabetes in the French Caucasian population. 15735892 2005
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE The results of this study provide evidence that variants in both the P1 and P2 promoters of HNF4A increase risk for typical type 2 diabetes. 15561969 2004
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE Finally, the example of single gene diabetes, particularly HNF1A MODY and permanent neonatal diabetes associated with the KCNJ11 and ABCC8 genes, all efficiently controlled on sulfonylurea, inspires us to continue the efforts to tailor individual treatment for T2DM patients. 22996131 2012
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 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
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE The study included 220 affected subjects from 29 families in which early-onset type 2 diabetes occurred in multiple generations and was not linked to known MODY genes (MODY gene-negative families). 10333942 1999
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE We combined these results with our previous studies on HNF4alpha and TCF1 and explicitly tested for gene-gene interactions among these variants and with several known type 2 diabetes susceptibility loci, and we found no genetic interactions between these six genes. 17327436 2007
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE During the course of our search for susceptibility genes contributing to the more common late-onset NIDDM forms, we observed nominal evidence for linkage between NIDDM and markers in the region of the HNF-4alpha/MODY1 locus in a subset of French families with NIDDM diagnosed before 45 yr of age. 9449683 1998
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE We recommend inclusion of exon 1E and nearby DNA sequences in screening for HNF4alpha mutations and polymorphisms in genetic analyses of MODY1 and T2DM. 19353766 2009
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
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
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE Genetic analysis revealed a novel variant (p.Pro190Leu) in HNF4A, which is located in the ligand binding domain of the transcription factor, and the p.Glu23Lys variant in KCNJ11, which is associated with type 2 diabetes. 26315042 2015
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE Neither PPARG2 Pro12Ala nor any of the nine HNF4A SNPs were independently associated with type 2 diabetes-related quantitative traits. 18162503 2008
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE Two low-frequency, non-synonymous variants in HNF4A (V255M, minor allele frequency [MAF] ~0.1%; T130I, MAF ~3.0%)-known to influence downstream HNF-4A target gene expression-are of interest, but previous type 2 diabetes association reports were inconclusive. 20878384 2011