|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program.
|
17259403 |
2007 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes.
|
26246406 |
2015 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
Biomarker
|
disease |
BEFREE |
A non-mutagenic SNP on nucleotide position 333 (Pro69Pro) added another exonic splicing enhancer sequence detected by ASF/SF2, reduced relative abundance of SUR1Δ2 and slightly protected from non-insulin dependent diabetes in homozygotic individuals.
|
21671119 |
2012 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Altered expression of Notch2 and ABCC8 genes may play a role in the pathogenesis of T2DM.
|
28794851 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the common variants E23K (KCNJ11) and S1369A (ABCC8) form a tightly heritable haplotype that is associated with an increased susceptibility to type 2 diabetes (T2D) risk.
|
22187380 |
2012 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
Biomarker
|
disease |
BEFREE |
Among these proteins involved in ion homeostasis, the ischemia-induced, nonselective cation conductance formed by the SUR1-TRPM4 protein complex appears to play a prominent role and is potently inhibited by glibenclamide, an FDA-approved drug commonly used in patients with Type 2 diabetes.
|
24380477 |
2014 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Association of sulfonylurea receptor 1 genotype with therapeutic response to gliclazide in type 2 diabetes.
|
17118480 |
2007 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Based on estimated haplotype frequencies in different Caucasian populations we conclude that multiple haplotypes on the SUR1 gene seem to confer a risk for developing Type II diabetes in Caucasians.
|
10333056 |
1999 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Common polymorphisms (KCNJ11 E23K and ABCC8 exon16-3t/c) in these genes have been reported to be associated with type 2 diabetes in various European-descent populations.
|
19498446 |
2009 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Comprehensive tagging studies have demonstrated that the KCNJ11 E23K variant (or ABCC8 A1369S in LD>0.9) is responsible for the known association between KCNJ11 and T2D.
|
17342155 |
2007 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
CYP2C9, KCNJ11 and ABCC8 polymorphisms and the response to sulphonylurea treatment in type 2 diabetes patients.
|
24442125 |
2014 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Each of the ABCC8 gene mutation carrier family members were diagnosed with diabetes as follows: the grandfather with type 2 diabetes at 35 years of age, the aunt with slowly-progressive insulin-dependent diabetes at 18 years of age, the mother with ketosis-onset insulin-dependent diabetes at 14 years of age, the sister with impaired glucose tolerance at 9 years of age, and the proband with transient neonatal diabetes at birth.
|
30068891 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Effect of genetic variants in KCNJ11, ABCC8, PPARG and HNF4A loci on the susceptibility of type 2 diabetes in Chinese Han population.
|
20079163 |
2009 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function ABCC8/sulfonylurea (SU) receptor 1 mutations cause neonatal diabetes mellitus (NDM) or late-onset diabetes in adult relatives.
|
22210575 |
2012 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
It has been hypothesized that the p.E23K (KCNJ11) mutation in the 11p15.1 region may play an important role in the development of T2DM.In 2009, Hamming et al. found that the p.1369A (ABCC8) variant may be a causal factor in the disease; therefore, in this study we performed a meta-analysis to evaluate the association between these single nucleotide polymorphisms (SNPs), including our original data on the Siberian population (1384 T2DM and 414 controls).
|
25955821 |
2015 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment.
|
28587604 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Like peroxisome proliferator-activated receptor gamma, the SUR1/Kir6.2 gene region both contributes to the inherited risk of type 2 diabetes and encodes proteins that are targets for hypoglycemic medications, providing an intriguing link between the underlying mechanism of disease and validated targets for pharmacological treatment.
|
15111507 |
2004 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
Biomarker
|
disease |
BEFREE |
Long used to target K<sub>ATP</sub> (Sur1-Kir6.2) channels for the treatment of diabetes mellitus type 2, glyburide was recently repurposed to target Sur1-transient receptor potential melastatin 4 (Trpm4) channels in acute central nervous system injury.
|
30147301 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Meta-analysis of all case-control data showed that the E23K allele was associated with type 2 diabetes (K allele OR 1.23 [1.12-1.36], P = 0.000015; KK genotype 1.65 [1.34-2.02], P = 0.000002); but the ABCC8 variants were not associated.
|
12540637 |
2003 |