|
rs1801282
|
|
|
0.090 |
GeneticVariation |
BEFREE |
We studied the effect of the Pro12Ala polymorphism on the rates of whole-body, skeletal muscle, and subcutaneous adipose tissue glucose uptake (GU) in T2DM subjects, and the rates of hepatic GU in nondiabetic and T2DM subjects during hyperinsulinemia.
|
19303976 |
2009 |
|
rs1801282
|
|
|
0.090 |
GeneticVariation |
BEFREE |
A common polymorphism (Pro12Ala) of the adipose tissue-specific gamma 2 isoform is associated with increased insulin sensitivity and decreased risk of developing type 2 diabetes.
|
12643137 |
2002 |
|
rs1801282
|
|
|
0.090 |
GeneticVariation |
BEFREE |
We investigated individual and combined associations of Pro12Ala and His447His polymorphisms of PPARγ with PCOS susceptibility and its related traits (hyperinsulinemia, hyperandrogenemia and lipid parameters) in Indian women.
|
23748472 |
2013 |
|
rs1801282
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The PPARgamma2 amino acid polymorphism Pro 12 Ala is prevalent in offspring of Type II diabetic patients and is associated to increased insulin sensitivity in a subgroup of obese subjects.
|
10382597 |
1999 |
|
rs1801282
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Pro12Ala, a missense mutation in exon 2 of PPARG, reduces transcriptional activity of PPARgamma2 and is shown to be associated with increased insulin sensitivity and protection from T2D.
|
20368233 |
2010 |
|
rs1801282
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Among the genetic factors, a polymorphism (Pro12Ala) in the peroxisome proliferator-activated receptor (PPAR) gamma is associated with a reduced risk of type 2 diabetes mellitus and increased insulin sensitivity, primarily that of lipolysis.
|
11684868 |
2001 |
|
rs1801282
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The Pro12Ala polymorphism of the PPARgamma gene is associated with increased insulin sensitivity and lower hirsutism scores in PCOS women.
|
15853827 |
2005 |
|
rs1801282
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Our results suggest that the Pro12Ala polymorphism of the PPARgamma-2 gene promotes peripheral deposition of adipose tissue and increased insulin sensitivity for a given BMI.
|
12370112 |
2002 |
|
rs1801282
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The Pro12Ala polymorphism in the PPAR-gamma2 gene has been associated with reduced transcriptional activity in vitro and increased insulin sensitivity in vivo.
|
11334419 |
2001 |
|
rs1805192
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The Pro12Ala polymorphism in the PPAR-gamma2 gene has been associated with reduced transcriptional activity in vitro and increased insulin sensitivity in vivo.
|
11334419 |
2001 |
|
rs1805192
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The Pro12Ala polymorphism of the PPARgamma gene is associated with increased insulin sensitivity and lower hirsutism scores in PCOS women.
|
15853827 |
2005 |
|
rs1805192
|
|
|
0.090 |
GeneticVariation |
BEFREE |
We studied the effect of the Pro12Ala polymorphism on the rates of whole-body, skeletal muscle, and subcutaneous adipose tissue glucose uptake (GU) in T2DM subjects, and the rates of hepatic GU in nondiabetic and T2DM subjects during hyperinsulinemia.
|
19303976 |
2009 |
|
rs1805192
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Pro12Ala, a missense mutation in exon 2 of PPARG, reduces transcriptional activity of PPARgamma2 and is shown to be associated with increased insulin sensitivity and protection from T2D.
|
20368233 |
2010 |
|
rs1805192
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Among the genetic factors, a polymorphism (Pro12Ala) in the peroxisome proliferator-activated receptor (PPAR) gamma is associated with a reduced risk of type 2 diabetes mellitus and increased insulin sensitivity, primarily that of lipolysis.
|
11684868 |
2001 |
|
rs1805192
|
|
|
0.090 |
GeneticVariation |
BEFREE |
A common polymorphism (Pro12Ala) of the adipose tissue-specific gamma 2 isoform is associated with increased insulin sensitivity and decreased risk of developing type 2 diabetes.
|
12643137 |
2002 |
|
rs1805192
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The PPARgamma2 amino acid polymorphism Pro 12 Ala is prevalent in offspring of Type II diabetic patients and is associated to increased insulin sensitivity in a subgroup of obese subjects.
|
10382597 |
1999 |
|
rs1805192
|
|
|
0.090 |
GeneticVariation |
BEFREE |
We investigated individual and combined associations of Pro12Ala and His447His polymorphisms of PPARγ with PCOS susceptibility and its related traits (hyperinsulinemia, hyperandrogenemia and lipid parameters) in Indian women.
|
23748472 |
2013 |
|
rs1805192
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Our results suggest that the Pro12Ala polymorphism of the PPARgamma-2 gene promotes peripheral deposition of adipose tissue and increased insulin sensitivity for a given BMI.
|
12370112 |
2002 |
|
rs11575937
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Through the use of focused DNA sequencing of positional candidate genes on chromosome 1q21, we discovered that FPLD results from mutations in LMNA (R482Q; OMIM 150330.0010), which is the gene that encodes nuclear lamins A and C. By stratifying members of extended FPLD pedigrees according to LMNA genotype, we found that hyperinsulinemia is present early in the course of the disease and that dyslipidemia (characterized by high triglycerides and depressed HDL cholesterol) precedes the development of glucose abnormalities.
|
11136544 |
2000 |
|
rs11575937
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes.
|
10810087 |
2000 |
|
rs11575937
|
|
|
0.030 |
GeneticVariation |
BEFREE |
FPLD was recently discovered to result from mutated LMNA (R482Q; OMIM #150330.0010), which is the gene encoding nuclear lamins A and C. Results from extended pedigrees indicate that dyslipidemia precedes the plasma glucose abnormalities in FPLD subjects with mutant LMNA, and that the hyperinsulinemia is present early in the course of the disease.
|
11122771 |
2000 |
|
rs137852671
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We have described a dominant heterozygous mutation--E1506K--in the sulfonylurea receptor 1 (SUR1) gene (ABCC8) in a Finnish family, which leads to congenital hyperinsulinaemia due to reduction of K(ATP)-channel activity.
|
12559865 |
2003 |
|
rs137852671
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Conversely, no E1506K currents were recorded at rest or after metabolic inhibition, as expected for a mutation causing hyperinsulinemia.
|
21617188 |
2011 |
|
rs587777260
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A female presenting at age 11 years with acanthosis nigricans and extreme postprandial hyperinsulinemia was heterozygous for a premature stop mutation (R363X) in TBC1D4.
|
19470471 |
2009 |
|
rs587777260
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In humans, a truncation mutation (R363X) in one allele of AS160 decreased the expression of the protein and caused severe postprandial hyperinsulinaemia during puberty.
|
23078342 |
2013 |