HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE The result of this study provides evidence that variants in the HNF1beta region contribute to susceptibility to type 2 diabetes in the Chinese population. 19168595 2009
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE Islet ATAC-seq peaks overlap with 13 SNPs associated with T2D (e.g. rs7903146, rs2237897, rs757209, rs11708067 and rs878521 near TCF7L2, KCNQ1, HNF1B, ADCY5 and GCK, respectively) and with additional 67 SNPs in LD with known T2D SNPs (e.g. 31123324 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.800 Biomarker disease BEFREE Polymorphisms in HNF-1beta (transcription factor 2 [TCF2]) did not significantly influence insulin or glucose values nor did they predict future type 2 diabetes. 18332101 2008
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE The results confirm that the genetic variations in the HNF-1 beta gene would be a very uncommon cause of progressive nephropathy in patients with type 2 diabetes mellitus. 12012276 2002
Diabetes Mellitus, Non-Insulin-Dependent
0.800 Biomarker disease BEFREE hs-CRP was lower in HNF1A-MODY (median [IQR] 0.3 [0.1-0.6] mg/L) than type 2 diabetes (1.40 [0.60-3.45] mg/L; P < 0.001) and type 1 diabetes (1.10 [0.50-1.85] mg/L; P < 0.001), HNF4A-MODY (1.45 [0.46-2.88] mg/L; P < 0.001), GCK-MODY (0.60 [0.30-1.80] mg/L; P < 0.001), and HNF1B-MODY (0.60 [0.10-2.8] mg/L; P = 0.07). hs-CRP discriminated HNF1A-MODY from type 2 diabetes with hs-CRP <0.75 mg/L showing 79% sensitivity and 70% specificity (receiver operating characteristic area under the curve = 0.84). 21700917 2011
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE We observed consistent and significant associations of IGF2BP2, WFS1, CDKAL1, SLC30A8, CDKN2A/B, HHEX, TCF7L2 and KCNQ1 (8.5×10(-18)<P<8.5×10(-3)), as well as nominal associations of NOTCH2, JAZF1, KCNJ11 and HNF1B (0.05<P<0.1) with T2D risk, which yielded odds ratios ranging from 1.07 to 2.09. 24376643 2013
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE Nominal interactions were observed for sleep duration and PPARG rs1801282, CRY2 rs7943320 and HNF1B rs4430796 in influencing risk of type 2 diabetes (p < 0.05). 24280871 2014
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE Common variants in the hepatocyte nuclear factor 1 homeobox B (HNF1B) gene are associated with the risk of Type II diabetes and multiple cancers. 25378557 2015
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE Mutations in hepatocyte nuclear factor-1β gene result in a multisystemic syndrome where a monogenic form of diabetes (maturity-onset diabetes of young type 5; MODY 5) and renal anomalies, usually bilateral multiple cysts are the most characteristic findings. 29574432 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE Not only did an association between WFS1-rs6446482 and early-onset T2D exist in the subgroup analysis, but TCF2-rs7501939 and WFS1-rs6446482 were also confirmed to confer risk for T2D in this meta-analysis. 20509872 2010
Diabetes Mellitus, Non-Insulin-Dependent
0.800 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
0.800 GeneticVariation disease BEFREE Studies of the variability of the hepatocyte nuclear factor-1beta (HNF-1beta / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and beta-cell function. 11668623 2001
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE Two studies have identified a version (allele) of a variant in the HNF1B (also known as TCF2) gene that predisposes to type 2 diabetes, and one of them showed that the same allele protects men from prostate cancer. 18696045 2008
Diabetes Mellitus, Non-Insulin-Dependent
0.800 Biomarker disease BEFREE Here, we outline the effects of genetic and environmental factors on the known phenotypes of MODY, focusing mainly on the examples of MODY 5 and 6, which have low penetrance, as suggestive models for elucidating the multifactorial origin of type 2 diabetes mellitus. 29406598 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE The results indicate that as in white patients, MODY resulting from mutations in the HNF-1 alpha, HNF-1 beta, and HNF-4 alpha genes in Japanese patients may be a severe disease similar to classic type 2 diabetes. 9839108 1998
Diabetes Mellitus, Non-Insulin-Dependent
0.800 Biomarker disease BEFREE After adjusting for multiple covariates, SNPs in or near CDKAL1, CDKN2BAS, KCNQ1, TCF7L2, CDC123/CAMK1D, HHEX, and TCF2 were associated with the risk for lean T2D, and SNPs in or near KCNQ1 and FTO were associated with the risk for obese T2D. 27281091 2016
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE Genetic studies revealed a heterozygous mutation (S148L) of the HNF1B gene, compatible with an HNF1B-MODY phenotype (MODY5). 21767339 2012
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12 (rs4430796, P = 7.1 × 10(-10)) that is also associated with risk of prostate cancer and is inversely associated with risk of type 2 diabetes. 21499250 2011
Diabetes Mellitus, Non-Insulin-Dependent
0.800 AlteredExpression disease BEFREE We have detected the interactions of hsa-miR-214-5p/hsa-miR-550a-5p and the 3'UTR SNP of the HNF1B gene by in vitro luciferase reporter assays, and propose that the binding of such miRNAs regulates the expression of the HNF1B gene and the susceptibility of T2DM. 26329304 2015
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE The subject with the R276X mutation had MODY5 misdiagnosed as common type 2 diabetes. 12161522 2002
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE Our findings suggested that TCF2 variants may be involved in T2D risk in a Han population of northeastern China. 23300827 2012
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE Genetic variants of WFS1, CDKAL1, CDKN2BAS, TCF7L2, HHEX, KCNQ1, TSPAN8/LGR5, FTO, and TCF2 were associated with the risk for T2D with MetS, as well as the risk for development of T2D with at least one of the MetS components (P < 0.05). 26599349 2015
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE It identified two high-ranking, biologically interesting interactions: (1) rs748120 of NR2C2 and subregions of 8q24 that contain independent susceptibility loci specific to PRCA and (2) rs4810671 of SULF2 and both JAZF1 and HNF1B that are associated with PRCA and type 2 diabetes. 22086326 2011
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE Where type 2 diabetes was the outcome, only one statistically significant interaction effect was observed, and this was for the HNF1B rs4430796 variant (P(interaction) = 0.0004). 19324937 2009
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. 17603485 2007