HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE The four polymorphisms, rs4810424, rs1884613, rs1884614 and rs2144908, in the HNF‑4α gene were not the susceptible loci for type 2 diabetes in the Bai population of Dali city, however, the haplotype, CCTA, built from the four SNPs may increase the risk of type 2 diabetes in this population. 26781905 2016
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE All 13 known MODY genes, genes identified from a genome-wide linkage study or genome-wide association studies as increasing the risk of type 2 diabetes and genes causing diabetes in animal models, were included in the custom panel. 25048417 2015
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE MODY is genetically heterogeneous with five different genes identified to date: hepatocyte nuclear factor-4 alpha (HNF-4 alpha) [MODY1]; glucokinase [MODY2]; hepatocyte nuclear factor-1 alpha (HNF-1 alpha) [MODY3]; insulin promoter factor-1 (IPF-1) [MODY4]; and hepatocyte nuclear factor-1 beta (HNF-1 beta) [MODY5]. 11058894 2000
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 BEFREE The purpose of this study was to determine whether alterations in known MODY genes and two MODY candidate genes contribute to the development of early-onset type 2 diabetes in Pima Indians. 10868855 2000
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE The results of the present analysis revealed that the HNF4A gene might be a type 2 diabetes susceptibility gene common to different ethnic groups. 16644680 2006
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease LHGDN Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1. 15928245 2005
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE Concerning the Gly15Gly polymorphism, the TT genotype was found in 275 subjects (79.9%), the TG genotype in 67 subjects (19.5%) and the GG genotype in 2 subjects (0.6%): one with maturity onset diabetes of young age (MODY-diabetes) and one with Lipoatrophic Diabetes Syndrome (LPDS). 11029602 2000
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. 9032114 1997
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE The study included 72 patients with HNF1A-MODY, 72 with GCK-MODY, 53 with type 1 diabetes (T1DM), 70 with type 2 diabetes (T2DM), and 65 controls. 26347889 2015
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE Mutations in an unknown locus (MODY1) on chromosome 20 and the glucokinase gene (MODY2) on chromosome 7 can cause this form of non-insulin-dependent diabetes. 7589847 1995
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE A hepatocyte nuclear factor-4 alpha gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes: studies of HNF4A variants in the Norwegian MODY registry. 16731861 2006
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE HNF4A variants identified so far appear to modestly contribute to predisposition for type 2 diabetes. 17563455 2007
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE Seven mutations in the hepatocyte nuclear factor (HNF)-4alpha gene have been shown to correlate with type 1 maturity-onset diabetes of the young (MODY 1), a monogenic form of type 2 diabetes. 10331424 1999
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 GeneticVariation disease BEFREE Mutations in the hepatocyte nuclear factor (HNF)-1alpha and glucokinase (GCK) genes are the major causes of monogenic forms of Type II (non-insulin-dependent) diabetes mellitus (Maturity-Onset Diabetes of the Young subtypes, MODY). 11440371 2001
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE In this study, we evaluated 23 SNPs spanning 111 kb including the HNF4A gene for association with type 2 diabetes in a collection of Caucasian type 2 diabetic patients with end-stage renal disease (n = 300) and control subjects (n = 310). 15793260 2005
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 BEFREE Linkage studies have been done in MODY families reported to have no mutations in the five known MODY genes and in affected sibling pairs from families with late-onset Type II diabetes. 10230653 1999
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 BEFREE Controversy remains for the association between hepatocyte nuclear factor 4α (HNF-4α) P2 promoter polymorphism rs1884613 and type 2 diabetes (T2D). 25400315 2014
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE Rare loss-of-function mutations in HNF4A cause maturity-onset diabetes of the young and now common noncoding variants have been found to be associated with T2DM. 15794920 2005
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE Although our combined results fail to replicate the previously reported association of common variants in HNF4alpha with risk for type 2 diabetes, we cannot exclude an effect smaller than that originally proposed, heterogeneity among samples, variation in as-yet-unmeasured genotypic or environmental modifiers, or true association secondary to linkage disequilibrium (LD) with as-yet-undiscovered variant(s) in the region. 15734869 2005
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE These results support the possibility that a variant in the P2 promoter region of HNF4A, or variants in linkage disequilibrium within this region, contributes to susceptibility to type 2 diabetes in many ethnic populations including Mexican Americans. 17259399 2007
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE To assess the role of the P2 region we screened MODY, young-onset Type II diabetic subjects, and probands from Type II diabetes families linked to chromosome 20 for variants of the P2 promoter and associated exon of HNF-4 alpha. 12242469 2002