|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
SusceptibilityMutation
|
disease |
CLINVAR |
|
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
Biomarker
|
disease |
HPO |
|
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
Biomarker
|
disease |
BEFREE |
MODY is both clinically and genetically heterogeneous, with six different genes identified to date; glucokinase (GCK), hepatocyte nuclear factor-1 alpha (HNF1A, or TCF1), hepatocyte nuclear factor-4 alpha (HNF4A), insulin promoter factor-1 (IPF1 or PDX1), hepatocyte nuclear factor-1 beta (HNF1B or TCF2), and neurogenic differentiation 1 (NEUROD1).
|
16917892 |
2006 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Type 2 diabetes mellitus (T2DM) is a genetically heterogeneous disease, hepatocyte nuclear factor-1 homeobox A (HNF1A) single-nucleotide polymorphisms (SNPs) playing a minor role in its pathogenesis.
|
19490620 |
2009 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
MODY was confirmed in 1,177 (35%) patients, with HNF1A (52%) and GCK mutations (32%) being most frequent in probands confirmed with MODY.
|
20499044 |
2010 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
MODY is genetically heterogeneous with three different genes identified to date; hepatocyte nuclear factor 4 alpha (HNF-4 alpha) [MODY1], glucokinase [MODY2] and hepatocyte nuclear factor 1 alpha (HNF-1 alpha) [MODY3].
|
9243109 |
1997 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
Biomarker
|
disease |
BEFREE |
HNF1-beta and JAZF1 genes are associated with T2D and prostate cancer.
|
19558691 |
2009 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
HNF1 alpha gene coding regions mutations screening, in a Caucasian population clinically characterized as MODY from Argentina.
|
21168233 |
2011 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
Biomarker
|
disease |
BEFREE |
MODY3 experienced a larger decrease in the ratio of NEFA to insulin (NEFA 30-0 / insulin 30-0: -39 [-78; -30] x104) in the early post-prandial period (0-30 minutes) compared to controls and to T2D (-2.0 [-0.6; -6.4] x104; P<0.05).
|
28493909 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
Biomarker
|
disease |
BEFREE |
MODY3 and NIDDM subjects had significantly higher fasting glucose levels than subjects in the other groups.
|
8875082 |
1996 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation of R272H (replacement of Arg by His in codon 272) in the DNA binding domain of HNF-1 alpha was found in a subject who developed IDDM 1 year after diagnosis of NIDDM at 8 years of age.
|
9313763 |
1997 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the hepatocyte nuclear factor-1alpha/MODY3 gene in Chinese subjects with early-onset Type 2 diabetes mellitus in Taiwan.
|
10872540 |
2000 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
A prevalent amino acid polymorphism at codon 98 (Ala98Val) of the hepatocyte nuclear factor-1alpha is associated with maturity-onset diabetes of the young and younger age at onset of type 2 diabetes in Asian Indians.
|
16186275 |
2005 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A single rare missense variant (c.1522G>A [p.E508K]) was associated with type 2 diabetes prevalence (odds ratio [OR], 5.48; 95% CI, 2.83-10.61; P = 4.4 × 10(-7)) in hepatocyte nuclear factor 1-α (HNF1A), the gene responsible for maturity onset diabetes of the young type 3 (MODY3).
|
24915262 |
2014 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
After adjusting for multiple covariates, SNPs in ABCA1, GCKR, BAZ1B, TOMM40, and HNF1A were identified as significantly associated with triglyceride levels in T2D patients (P < 0.05).
|
26252223 |
2015 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
Biomarker
|
disease |
BEFREE |
Apolipoprotein M can discriminate HNF1A-MODY from Type 1 diabetes.
|
23157689 |
2013 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.
|
28170077 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs2237895 (P=0.002), ALX4 rs729287 (Pc=7.5 × 10(-5)), and HNF1 rs4430796 (P=0.003) were significantly associated with T2DM, with similar effect sizes to those of Europeans.
|
24145053 |
2013 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Common variants in HNF-1 alpha and risk of type 2 diabetes.
|
17033837 |
2006 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
Biomarker
|
disease |
BEFREE |
Concentration of hsCRP was lowest in HNF1A MODY (0.51 mg/l) and highest in type 2 diabetes (1.33 mg/l).
|
30778899 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
Biomarker
|
disease |
BEFREE |
Coronary heart disease was more common in MODY3 than in IDDM (16 vs 4.5%; p < 0.02) but less common than in the older NIDDM patients (33.3%; p < 0.02).
|
9562352 |
1998 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Cystatin C levels were lower (p < 0.001) in the control (0.70 ± 0.13 mg/L), HNF1A (0.75 ± 0.21), and GCK (0.72 ± 0.16 mg/L) groups in comparison to those with either T1DM (0.87 ± 0.15 mg/L) or T2DM (0.9 ± 0.23 mg/L).
|
26347889 |
2015 |