rs1057518775
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs193922479
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs587777732
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs886041065
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs268
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygosity for Asn291-->Ser mutation in the lipoprotein lipase gene in two Finnish pedigrees: effect of hyperinsulinemia on the expression of hypertriglyceridemia.
|
8732773 |
1996 |
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 |
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 |
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 |
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 |
rs1799883
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggest that the Ala54Thr substitution in the FABP2 gene is associated with increased fat oxidation and hyperinsulinemia in normal Korean men, but these effects are not mediated by an increase in the intestinal fatty acid absorption.
|
11288045 |
2001 |
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 |
rs1232898090
|
|
|
0.010 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs80356814
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, unlike the LMNA 1908C/T genetic variation, the MC3R 241G/A genetic variation was significantly associated with hyperleptinemia and huperinsulinemia in obese subjects, and there was evidence of interaction between this polymorphism and fat mass or BMI in predicting hyperinsulinemia.
|
15636422 |
2004 |
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 |
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 |
rs148969251
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A functional Tyr1306Cys variant in LARG is associated with increased insulin action in vivo.
|
16644711 |
2006 |