|
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 |
GeneticVariation
|
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 |
|
Renal cysts and diabetes syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Hepatocyte nuclear factor 1β (HNF1B), located on chromosome 17q12, causes renal cysts and diabetes syndrome (RCAD).
|
31131422 |
2019 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a sporadic case of maturity-onset diabetes of the young type 5 (MODY5) with a whole-gene deletion of the hepatocyte nuclear factor-1beta (HNF1B) gene.
|
31391355 |
2019 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Renal Cysts and Diabetes Syndrome (RCAD) is an autosomal dominant disorder caused by mutations in the HNF1B gene encoding for the transcriptional factor hepatocyte nuclear factor-1B.
|
30778115 |
2019 |
|
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 |
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 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A complete deletion of HNF1B can be found in about 50% of patients with MODY5.
|
30032214 |
2018 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Primary male factor infertility due to asthenospermia in maturity-onset diabetes of the young type 5 (MODY 5): uncommon presentation of an uncommon disease.
|
29574432 |
2018 |
|
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 |
|
Renal cysts and diabetes syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
HNF1B was first identified as a disease gene for diabetes (MODY5) in 1997, and its involvement in renal disease was subsequently noted through clinical observations in pedigrees affected by MODY5.
|
26160100 |
2016 |
|
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 |
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 |
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 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous germline mutations of HNF1B are associated with the renal cysts and diabetes syndrome (RCAD).
|
25700310 |
2015 |
|
Renal cysts and diabetes syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Hepatocyte nuclear factor 1-β (HNF1B) defects cause renal cysts and diabetes syndrome (RCAD), or HNF1B-maturity-onset diabetes of the young.
|
25741167 |
2015 |
|
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 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
HNF1B-related disease is an emerging condition characterized by an autosomal-dominant inheritance, a 50% rate of de novo mutations, and a highly variable phenotype (renal involvement, maturity-onset diabetes of the young type 5, pancreatic hypoplasia, and urogenital tract and liver test abnormalities).
|
24897035 |
2014 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations.
|
24487052 |
2014 |
|
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 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although HNF1B mutations are a rare cause of diabetes in the absence of known renal disease, a genetic diagnosis of renal cysts and diabetes syndrome is important as it raises the possibility of subclinical renal disease and the 50% risk of renal cysts and diabetes syndrome in the patient's offspring.
|
22587559 |
2013 |
|
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 |
Our findings suggested that TCF2 variants may be involved in T2D risk in a Han population of northeastern China.
|
23300827 |
2012 |
|
Renal cysts and diabetes syndrome
|
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 |
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 |