{{Rsnum
|rsid=1801282
|Gene=PPARG
|Chromosome=3
|position=12351626
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.06612
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Summary=Associated with T2D and fat metabolism.
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=PPARG
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 82.3 | 15.9 | 1.8
| HCB | 89.1 | 10.2 | 0.7
| JPT | 94.7 | 5.3 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 94.7 | 5.3 | 0.0
| CHB | 89.1 | 10.2 | 0.7
| CHD | 93.6 | 5.5 | 0.9
| GIH | 83.2 | 14.9 | 2.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 79.3 | 19.0 | 1.7
| MKK | 96.8 | 3.2 | 0.0
| TSI | 86.3 | 13.7 | 0.0
| HapMapRevision=28
}}[[rs1801282]], also known as Pro12Ala, is a common SNP in the peroxisome proliferator-activated receptor [[PPARG]] gene. The more common (C) allele (in dbSNP orientation) encodes the 'Pro' amino acid at this SNP position.

[[rs1801282]] has been reported to be associated with metabolic syndrome, but other studies have not been able to replicate any strong or significant effect. {{PMID|18959602}}

{{PMID|17554300|OA=1
}} The association between [[type-1 diabetes]] and SNP [[rs1801282]] is mentioned as being replicated in 

{{PMID|18280041}} [[rs1801282]] and risk of cognitive decline in elders? Maybe with diabetes.

{{PMID|19228871|OA=1
}} A ten-year study of 679 male patients with symptomatic coronary artery disease found that [[rs1801282]](G) carriers had a much lower (10 year) cardiovascular risk, with the hazard ratio estimated to be 0.10 (CI: 0.01-0.70, p = 0.02) for ischemic [[heart disease]] and 0.24 for vascular death (CI: 0.08-0.74, p = 0.013) per copy of the allele.

[http://blog.23andme.com/2009/01/06/mouse-research-indicates-effect-of-a-snp-in-humans-might-depend-on-diet/ 23andMe blog] carriers could be informed that they really need to watch out for high fat in their diets

{{Venter SNP
|rsid=1801282
|allele=G
|frequency=0.075
|uid=1103656026969
|type=heterozygous_SNP
|hugo=PPARG
|ensembl gene=ENSG00000132170
|ensembl transcript=ENST00000287820
|sift=
|disease=Variation in PPARG is associated with carotid intimal medial thickness 1 (CIMT1) (MIM:609338). CIMT is a measure of atherosclerosis that is independently associated with traditional atherosclerotic cardiovascular disease risk factors and coronary atherosclerotic burden. 35 to 45% of the variability in multivariable-adjusted CIMT is explained by genetic factors.
}}

{{ neighbor
| rsid = 17241090
| distance = 1
}}

{{PMID Auto GWAS
|PMID=17463246
|Trait=Type 2 diabetes
|Title=Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
|RiskAllele=C
|Pval=0.0000019999999999999999
|OR=1.14
|ORtxt=[1.08-1.20]
}}
{{PMID Auto GWAS
|PMID=17463248
|Trait=Type 2 diabetes
|Title=A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
|RiskAllele=C
|Pval=0.0000019999999999999999
|OR=1.14
|ORtxt=[1.08-1.20]
|OA=1
}}
{{PMID Auto GWAS
|PMID=17463249
|Trait=Type 2 diabetes
|Title=Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
|RiskAllele=C
|Pval=0.0000019999999999999999
|OR=1.14
|ORtxt=[1.08-1.20]
|OA=1
}}
{{PMID Auto
|PMID=18972257
|Title=Comparison of genetic risk in three candidate genes (TCF7L2, PPARG, KCNJ11) with traditional risk factors for type 2 diabetes in a population-based study--the HUNT study
}}
{{PMID Auto
|PMID=18996470
|Title=Rapid and cost effective genotyping method for polymorphisms in PPARG, PPARGC1 and TCF7L2 genes
}}

{{PMID Auto
|PMID=19543210
|Title=PPARG Genotype Accounts for Part of Individual Variation in Body Weight Reduction in Response to Calorie Restriction
}}

{{omim
|id=601487
|desc=PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG
|rsnum=1801282
}}
{{PMID Auto
|PMID=19644638
|Title=No association between polymorphisms of proliferator-activated receptor-gamma gene and peak bone mineral density variation in Chinese nuclear families
}}
{{PMID Auto
|PMID=19720797
|Title=Impact of The PPAR-{gamma}2 Pro12Ala polymorphism and ACE inhibitor therapy on new-onset microalbuminuria in type 2 Diabetes: evidence from Benedict
|OA=1
}}
{{PMID Auto
|PMID=19733160
|Title=Gender specific effect of Pro12Ala polymorphism in Peroxisome Proliferator-Activated Receptorgamma-2 gene on obesity risk and leptin levels in a Tunisian population
}}
{{PMID Auto
|PMID=19745552
|Title=Pro12Ala Polymorphism of the Peroxisome ProliferatorActivated Receptor-gamma Gene is Associated With Metabolic Syndrome and Surrogate Measures of Insulin Resistance in Healthy Men
}}

{{PharmGKB
|RSID=rs1801282
|Name_s=PPARG: Pro12Ala
|Gene_s=PPARG
|Feature=Exon/NonSyn
|Evidence=PubMed ID:16783862
|Annotation=Risk or phenotype-associated allele: G. Phenotype: For the Pro12Ala (rs1801282) SNP in the PPARG gene, an association was noted for the minor allele between psoriatic arthritis cases and controls (9.0% vs 13.8%, respectively; p = 0.017, OR 0.62, 95% CI 0.45-0.93). Study size: X. Study population/ethnicity: Caucasian
|Drugs=
|Drug Classes=
|Diseases=Arthritis, Psoriatic
|Curation Level=Curated
|PharmGKB Accession ID=PA165111428
}}
{{PMID Auto
|PMID=20043145
|Title=Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study
|OA=1
}}

{{PMID Auto
|PMID=20179158
|Title=The Association Between the Peroxisome Proliferator-Activated Receptor-{gamma}2 (PPARG2) Pro12Ala Gene Variant and Type 2 Diabetes Mellitus: A HuGE Review and Meta-Analysis
|OA=1
}}

{{PMID Auto
|PMID=20596649
|Title=PPARgamma polymorphisms and cancer risk: A meta-analysis involving 32,138 subjects
}}

{{PharmGKB
|RSID=rs1801282
|Name_s=
|Gene_s=PPARG
|Feature=Exon/NonSyn
|Evidence=PubMed ID:17463248
|Annotation=In a large Finnish case-control GWAS, rs1801282 was found to be associated with susceptibility to Type 2 Diabetes.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus, Type 2
|Curation Level=Curated
|PharmGKB Accession ID=PA162191393
}}
{{PMID Auto
|PMID=21178094
|Title=A Two-Step Association Study Identifies CAV2 rs2270188 Single Nucleotide Polymorphism Interaction with Fat Intake in Type 2 Diabetes Risk
}}

{{PMID Auto
|PMID=21263402
|Title=Association of PPARG and LPIN1 gene polymorphisms with metabolic syndrome and type 2 diabetes
}}

{{omim
|id=601487
|rsnum=1801282
|variant=0002
}}

{{PMID Auto
|PMID=21968139
|Title=Polymorphism of peroxisome proliferator-activated receptor ? (PPAR?) Pro12Ala in the Iranian population: Relation with insulin resistance and response to treatment with pioglitazone in type 2 diabetes
}}

{{PMID Auto
|PMID=22091247
|Title=Genotyping of peroxisome proliferator-activated receptor gamma (PPAR-?) polymorphism (Pro12Ala) in Iranian population
|OA=1
}}

{{PMID Auto
|PMID=22419714
|Title=Effect of Type 2 Diabetes Predisposing Genetic Variants on Colorectal Cancer Risk
}}

{{PMID Auto
|PMID=22509538
|Title=[Meta-analysis of the association of Pro12Ala polymorphism of peroxisome proliferator activated receptor gamma gene with type 2 diabetes in Chinese Han population]
}}

{{PMID Auto
|PMID=22515931
|Title=Association of the PPARG Pro12Ala polymorphism with type 2 diabetes and incident coronary heart disease in a Hong Kong Chinese population
}}

{{PMID Auto
|PMID=22569928
|Title=Analysis of common type 2 diabetes mellitus genetic risk factors in new-onset diabetes after transplantation in kidney transplant patients medicated with tacrolimus
|OA=1
}}

{{ClinVar
|rsid=1801282
|Reversed=0
|FwdREF=C
|FwdALT=G
|REF=C
|ALT=G
|RSPOS=12393125
|CHROM=3
|GMAF=0.0659
|dbSNPBuildID=89
|SSR=0
|SAO=0
|VP=0x050178000000150517130100
|GENEINFO=PPARG:5468
|GENE_NAME=PPARG
|GENE_ID=5468
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.12393125C>G
|CLNSIG=5
|Tags=PM;TPA;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.9339; 0.06612
|COMMON=1
|CLNACC=RCV000008604.1; RCV000008605.1; RCV000008606.2; RCV000008607.1
|CLNDBN=Diabetes mellitus, noninsulin-dependent, modifier of; Obesity, modifier of; Body mass index, modifier of; Intimal medial thickness of internal carotid artery, modifier of
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=601487.0002
|Disease=Diabetes mellitus; Obesity; Body mass index; Intimal medial thickness of internal carotid artery
}}

{{PMID Auto
|PMID=16713673
|Title=Variations in the peroxisome proliferator-activated receptor-gamma gene and melanoma risk.
}}

{{PMID Auto
|PMID=17094261
|Title=Effect of the peroxisome proliferators-activated receptor (PPAR) gamma 3 gene on BMI in 1,210 school students from Morelos, Mexico.
}}

{{PMID Auto
|PMID=17187763
|Title=Analysis of PGC-1alpha variants Gly482Ser and Thr612Met concerning their PPARgamma2-coactivation function.
}}

{{PMID Auto
|PMID=17213274
|Title=Effects of the type 2 diabetes-associated PPARG P12A polymorphism on progression to diabetes and response to troglitazone.
|OA=1
}}

{{PMID Auto
|PMID=17348446
|Title=Nested case-control study of energy regulation candidate gene single nucleotide polymorphisms and breast cancer.
}}

{{PMID Auto
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|Title=Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population.
|OA=1
}}

{{PMID Auto
|PMID=17570749
|Title=Genetic prediction of future type 2 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=17786212
|Title=Heterogeneity in meta-analyses of genome-wide association investigations.
|OA=1
}}

{{PMID Auto
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|Title=Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography.
|OA=1
}}

{{PMID Auto
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|Title=The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports.
|OA=1
}}

{{PMID Auto
|PMID=17903298
|Title=Genome-wide association with diabetes-related traits in the Framingham Heart Study.
|OA=1
}}

{{PMID Auto
|PMID=17903300
|Title=Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.
|OA=1
}}

{{PMID Auto
|PMID=18091023
|Title=SNPs in PPARG associate with type 2 diabetes and interact with physical activity.
}}

{{PMID Auto
|PMID=18160840
|Title=The association of Pro12Ala polymorphism of peroxisome proliferator-activated receptor-gamma gene with serum osteoprotegerin levels in healthy Korean women.
}}

{{PMID Auto
|PMID=18162508
|Title=Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population.
}}

{{PMID Auto
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|Title=Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
|OA=1
}}

{{PMID Auto
|PMID=18282109
|Title=Adaptations to climate in candidate genes for common metabolic disorders.
|OA=1
}}

{{PMID Auto
|PMID=18288282
|Title=Genetic polymorphisms of peroxisome proliferator-activated receptors and the risk of cardiovascular morbidity and mortality in a community-based cohort in washington county, Maryland.
|OA=1
}}

{{PMID Auto
|PMID=18304332
|Title=No evidence for association between BMI and 10 candidate genes at ages 4, 7 and 10 in a large UK sample of twins.
|OA=1
}}

{{PMID Auto
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|Title=Using the optimal receiver operating characteristic curve to design a predictive genetic test, exemplified with type 2 diabetes.
|OA=1
}}

{{PMID Auto
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|Title=Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia.
|OA=1
}}

{{PMID Auto
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|Title=Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
|OA=1
}}

{{PMID Auto
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|Title=PPAR Genomics and Pharmacogenomics: Implications for Cardiovascular Disease.
|OA=1
}}

{{PMID Auto
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|Title=Association analysis of type 2 diabetes Loci in type 1 diabetes.
|OA=1
}}

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|Title=Association of FTO with obesity-related traits in the Cebu Longitudinal Health and Nutrition Survey (CLHNS) Cohort.
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}}

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}}

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}}

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}}

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|Title=Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.
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}}

{{PMID Auto
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|Title=Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk.
|OA=1
}}

{{PMID Auto
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}}

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|Title=Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes.
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}}

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}}

{{PMID Auto
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|Title=Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.
|OA=1
}}

{{PMID Auto
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|Title=PPARG by dietary fat interaction influences bone mass in mice and humans.
|OA=1
}}

{{PMID Auto
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|OA=1
}}

{{PMID Auto
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{{PMID Auto
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}}

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{{PMID Auto
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{{PMID Auto
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|OA=1
}}

{{PMID Auto
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|Title=Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.
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{{PMID Auto
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}}

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}}

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}}

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}}

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}}

{{PMID Auto
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}}

{{PMID Auto
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|Title=PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.
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{{PMID Auto
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{{PMID Auto
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}}

{{PMID Auto
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|OA=1
}}

{{PMID Auto
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}}

{{PMID Auto
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}}

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}}

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}}

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}}

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}}

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}}

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}}

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}}

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}}

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}}

{{PMID Auto
|PMID=22410809
|Title=Association of PPAR-gamma gene polymorphisms with obesity and obesity-associated phenotypes in north indian population.
}}

{{PMID Auto
|PMID=22528626
|Title=Lifestyle factors modify obesity risk linked to PPARG2 and FTO variants in an elderly population: a cross-sectional analysis in the SUN Project.
|OA=1
}}

{{PMID Auto GWAS
|PMID=22581228
|Trait=None
|Title=A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
|RiskAllele=
|Pval=2E-7
|OR=None
|ORtxt=None
|OA=1
}}

{{PMID Auto
|PMID=23036708
|Title=Association of MTHFR and PPARγ2 genes polymorphism in relation to type 2 diabetes mellitus cases among north Indian population
}}

{{GET Evidence
|gene=PPARG
|aa_change=Pro12Ala
|aa_change_short=P12A
|impact=not reviewed
|qualified_impact=Moderate clinical importance, Uncertain not reviewed
|inheritance=undefined
|quality_scores=Array
|dbsnp_id=rs1801282
|overall_frequency_n=954
|overall_frequency_d=10758
|overall_frequency=0.0886782
|n_genomes=6
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualityscore_case_control=2
|qualityscore_familial=1
|qualityscore_severity=3
|qualitycomment_severity=Y
|qualityscore_treatability=2
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_gwas=Y
|in_pharmgkb=Y
|pph2_score=0.979
|genetests_testable=Y
|nblosum100=2
|max_or_disease_name=Diabetes Mellitus with Acanthosis Nigricans and Hypertension
|max_or_case_pos=0
|max_or_case_neg=0
|max_or_control_pos=0
|max_or_control_neg=0
|autoscore=4
|webscore=N
|n_web_uneval=10
}}

[[Response to Diet and Exercise]]

{{PMID Auto
|PMID=23386649
|Title=Common Genetic Variants in Peroxisome Proliferator-Activated Receptor-γ (PPARG) and Type 2 Diabetes Risk Among Women's Health Initiative Postmenopausal Women
|OA=1
}}

{{PMID Auto
|PMID=23448101
|Title=Does PPARγ2 Gene Pro12Ala Polymorphism Affect Nonalcoholic Fatty Liver Disease Risk? Evidence from a Meta-Analysis
}}

{{PMID Auto
|PMID=23559865
|Title=Association of Pro12Ala polymorphism in peroxisome proliferator activated receptor gamma with proliferative diabetic retinopathy
|OA=1
}}

{{PMID Auto
|PMID=23633103
|Title=Association of Pro12Ala (rs1801282) variant of PPAR gamma with Rheumatoid Arthritis in a Pakistani population
}}

{{PMID Auto
|PMID=22749234
|Title=Contribution of common variants of ENPP1, IGF2BP2, KCNJ11, MLXIPL, PPARγ, SLC30A8 and TCF7L2 to the risk of type 2 diabetes in Lebanese and Tunisian Arabs
}}

{{PMID Auto
|PMID=23741228
|Title=Lack of Genetic Associations of PPAR-γ and PGC-1α with Alzheimer's Disease and Parkinson's Disease with Dementia
|OA=1
}}

{{PMID Auto
|PMID=23874114
|Title=Association of FTO and PPARG polymorphisms with obesity in Portuguese women
|OA=1
}}

{{PMID Auto
|PMID=23907334
|Title=Genetic Variants of Peroxisome Proliferator-Activated Receptor δ Are Associated with Gastric Cancer
}}

{{PMID Auto
|PMID=24371822
|Title=IRS1, TCF7L2, ADRB1, PPARG, and HHEX Polymorphisms Associated with Atherogenic Risk in Mexican Population
|OA=1
}}

{{PMID Auto
|PMID=24552298
|Title=Association Between Six Genetic Polymorphisms and Colorectal Cancer: A Meta-Analysis
}}

{{PMID Auto
|PMID=24612564
|Title=Association of IRS-1, CAPN10 and PPARG gene polymorphisms with T2DM in the high risk population of Hyderabad, India
}}

{{PMID Auto
|PMID=22038464
|Title=Moderate effects of apple juice consumption on obesity-related markers in obese men: impact of diet-gene interaction on body fat content.
}}

{{PMID Auto
|PMID=22537818
|Title=Polymorphisms in adiposity-related genes are associated with age at menarche and menopause in breast cancer patients and healthy women.
}}

{{PMID Auto
|PMID=22561695
|Title=Quantitative evaluation of common polymorphism (rs1801282) in the PPARgamma2 gene and hypertension susceptibility.
}}

{{PMID Auto
|PMID=22987045
|Title=The meta-analysis of the association of PPARG P12A, C161T polymorphism and coronary heart disease.
}}

{{PMID Auto
|PMID=23054024
|Title=Quantitative assessment of the influence of PPARG P12A polymorphism on gestational diabetes mellitus risk.
}}

{{PMID Auto
|PMID=23147557
|Title=PPAR-gamma2 and PTPRD gene polymorphisms influence type 2 diabetes patients' response to pioglitazone in China.
}}

{{PMID Auto
|PMID=23161442
|Title=PPARG2 Pro12Ala and ADAMTS9 rs4607103 as "insulin resistance loci" and "insulin secretion loci" in Italian individuals. The GENFIEV study and the Verona Newly Diagnosed Type 2 Diabetes Study (VNDS) 4.
}}

{{PMID Auto
|PMID=23334806
|Title=Systematic identification of interaction effects between genome- and environment-wide associations in type 2 diabetes mellitus.
|OA=1
}}

{{PMID Auto
|PMID=23462794
|Title=Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets.
|OA=1
}}

{{PMID Auto
|PMID=24971461
|Title=Polymorphisms in the Inflammatory Pathway Genes TLR2, TLR4, TLR9, LY96, NFKBIA, NFKB1, TNFA, TNFRSF1A, IL6R, IL10, IL23R, PTPN22, and PPARG Are Associated with Susceptibility of Inflammatory Bowel Disease in a Danish Cohort
}}

{{PMID Auto
|PMID=25182148
|Title=The Pro12Ala polymorphism in the peroxisome proliferator-activated receptor gamma (PPARG) gene in relation to obesity and metabolic phenotypes in a Taiwanese population
}}

{{PMID Auto
|PMID=25274455
|Title=The gene polymorphisms of UCP1 but not PPAR γ and TCF7L2 are associated with diabetic retinopathy in Chinese type 2 diabetes mellitus cases
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}