rs1801282, PPARG

N. diseases: 131
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.100 GeneticVariation BEFREE When these 6 traits were included in a multivariate analysis, body mass index, systolic and diastolic blood pressures, triglyceride levels, and glucose concentration remained significantly associated with the P12A variant (P < 0.05), whereas the effect of P12A on liability for diabetes was not significant. 11158005 2001
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE Effect of the peroxisome proliferator-activated receptor-gamma 2 pro(12)ala variant on obesity, glucose homeostasis, and blood pressure in members of familial type 2 diabetic kindreds. 11158005 2001
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE Our findings suggest that P12A may be a genetic marker indicating risk for obesity persisting into adolescence. 11591408 2001
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.100 GeneticVariation BEFREE We confirm an association of the P12A variant in traits commonly ascribed to the insulin resistance syndrome, but not with direct measures of insulin sensitivity. 11158005 2001
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.100 GeneticVariation BEFREE The Pro12Ala polymorphism is not directly associated with obesity, hypertension or diabetes in this population. 11248748 2001
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
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
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
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
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.070 GeneticVariation BEFREE Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases. 11511919 2001
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.070 GeneticVariation BEFREE The Pro12Ala polymorphism is not directly associated with obesity, hypertension or diabetes in this population. 11248748 2001
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.070 GeneticVariation BEFREE Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases. 11511919 2001
Insulin resistance syndrome
CUI: C3714619
Disease: Insulin resistance syndrome
0.040 GeneticVariation BEFREE We confirm an association of the P12A variant in traits commonly ascribed to the insulin resistance syndrome, but not with direct measures of insulin sensitivity. 11158005 2001
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
0.010 GeneticVariation BEFREE Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases. 11511919 2001
obsolete Combined hyperlipidemia
CUI: C2712907
Disease: obsolete Combined hyperlipidemia
0.010 GeneticVariation BEFREE Obese carriers of the Pro12Ala polymorphism have a greater risk of developing combined hyperlipidaemia, possibly due to impaired activation of PPAR gamma target genes. 11248748 2001
Dyslipidemias
CUI: C0242339
Disease: Dyslipidemias
0.010 GeneticVariation BEFREE The Pro(12)Ala (P12A) variant of exon B of the peroxisome proliferator-activated receptor gamma(2) (PPAR gamma) been variably associated with obesity, insulin sensitivity, diabetes, and dyslipidemia, but its role in insulin resistance-associated traits remains uncertain. 11158005 2001
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 GeneticVariation BEFREE Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases. 11511919 2001
Diabetes Mellitus, Non-Insulin-Dependent
0.900 GeneticVariation BEFREE The Pro12Ala polymorphism may modulate receptor activity and is associated with protection from type 2 diabetes. 12429071 2002
Diabetes Mellitus, Non-Insulin-Dependent
0.900 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
Diabetes Mellitus, Non-Insulin-Dependent
0.900 GeneticVariation BEFREE Pro12Ala substitution in the peroxisome proliferator-activated receptor-gamma is associated with increased leptin levels in women with type-2 diabetes mellitus. 12218380 2002
Diabetes Mellitus, Non-Insulin-Dependent
0.900 GeneticVariation BEFREE We therefore assessed the associations between the most common variant of the PPAR-gamma, the Pro12Ala (P12A) substitution in the PPAR-gamma 2 gene, with BMI, blood pressure, fasting plasma glucose, HbA1c, total cholesterol, LDL and HDL cholesterol and plasma triglyceride in 183 treatment-naïve patients with type 2 diabetes (T2D). 12406034 2002
Diabetes Mellitus, Non-Insulin-Dependent
0.900 GeneticVariation BEFREE The Pro12Ala polymorphism of PPAR-gamma 2 has been shown to influence insulin sensitivity and the risk of type 2 diabetes in various ethnic populations. 12161548 2002
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.100 GeneticVariation BEFREE To investigate the role of the Pro12Ala peroxisome proliferator-activated receptor (PPAR) gamma-2 polymorphism in the susceptibility to the insulin resistance syndrome and its metabolic complications in a population-based nationwide multicenter study in Spain. 12370112 2002
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.100 GeneticVariation BEFREE To investigate in a population-based sample of Caucasians the relation of the Pro12Ala polymorphism with plasma concentrations of FFAs and other markers of lipid and glucose metabolism described as components of the insulin resistance syndrome. 12354130 2002
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.100 GeneticVariation BEFREE We conclude that Pro(12)Ala in PPARG is a modifier of insulin resistance in Caucasian women with PCOS. 11836319 2002
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.100 GeneticVariation BEFREE Both diabetes populations were typed for the PPARg Pro12Ala polymorphism, to replicate this well-supported association (Altshuler et al.2000). 12096349 2002
Diabetes
CUI: C0011847
Disease: Diabetes
0.100 GeneticVariation BEFREE Both diabetes populations were typed for the PPARg Pro12Ala polymorphism, to replicate this well-supported association (Altshuler et al.2000). 12096349 2002