rs1057515572
|
|
ACT |
0.700 |
GeneticVariation |
CLINVAR |
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
|
17557300 |
2007 |
rs1057518775
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs193922479
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs587777732
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs886041065
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 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 |
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 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 |
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 |