Gene: PPARG
Alternate names for this Gene: CIMT1|GLM1|NR1C3|PPARG1|PPARG2|PPARG5|PPARgamma
Gene Summary: This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described.
Gene is located in Chromosome: 3
Location in Chromosome : 3p25.2
Description of this Gene: peroxisome proliferator activated receptor gamma
Type of Gene: protein-coding
rs10510419 in
PPARG gene and
Body mass index
PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
PMID 25673413 2015 Genetic studies of body mass index yield new insights for obesity biology.
PMID 27416945 2016 Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci.
PMID 29273807 2018 Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.
PMID 22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.
rs1801282 in
PPARG gene and
Body mass index procedure
PMID 22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
rs17036170 in
PPARG gene and
Chemical and Drug Induced Liver Injury
PMID 22968431 2012 Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs.
rs11709077 in
PPARG gene and
Diabetes Mellitus, Non-Insulin-Dependent
PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 28869590 2017 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.
PMID 24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
PMID 29632382 2018 Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.
PMID 30718926 2019 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.
PMID 31118516 2019 Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
PMID 29358691 2018 Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.
rs17036170 in
PPARG gene and
Drug-Induced Liver Disease
PMID 22968431 2012 Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs.
rs2960422 in
PPARG gene and
Endometrial Carcinoma
PMID 30093612 2018 Identification of nine new susceptibility loci for endometrial cancer.
rs2960422 in
PPARG gene and
Eosinophil count procedure
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs121909244 in
PPARG gene and
Familial Partial Lipodystrophy, Type 3
PMID 10622252 2000 Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension.
PMID 25157153 2014 Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.
PMID 15254591 2004 Hypertension and abnormal fat distribution but not insulin resistance in mice with P465L PPARgamma.
PMID 22461176 2012 Peroxisome proliferator-activated receptor-γ protects against vascular aging.
PMID 12453919 2002 PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy.
PMID 11788685 2002 A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy.
rs1801282 in
PPARG gene and
Finding of body mass index
PMID 22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
rs6442310 in
PPARG gene and
Hematocrit procedure
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs4073770 in
PPARG gene and
Hemoglobin measurement
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs117350179 in
PPARG gene and
High density lipoprotein measurement
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
rs17036328 in
PPARG gene and
Insulin Sensitivity Measurement
PMID 27416945 2016 Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci.
rs10510418 in
PPARG gene and
Leukemia, Myelocytic, Acute
PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
rs17036321 in
PPARG gene and
Low density lipoprotein cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
rs12629751 in
PPARG gene and
Potassium measurement
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
rs13064760 in
PPARG gene and
RDW - Red blood cell distribution width result
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs35240997 in
PPARG gene and
Red Blood Cell Count measurement
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs13064760 in
PPARG gene and
Red cell distribution width determination
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs13306745 in
PPARG gene and
Serum HDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs17036321 in
PPARG gene and
Serum LDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs1699337 in
PPARG gene and
Serum total cholesterol measurement
PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
rs7649970 in
PPARG gene and
Waist Circumference
PMID 31453325 2019 Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK Biobank.
rs11712037 in
PPARG gene and
body fat percentage (physical finding)
PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.