{{Rsnum
|rsid=8192678
|Gene=PPARGC1A
|Chromosome=4
|position=23814039
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.2911
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PPARGC1A
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 15.0 | 39.8 | 45.1
| HCB | 18.4 | 47.1 | 34.6
| JPT | 27.4 | 51.3 | 21.2
| YRI | 0.7 | 8.9 | 90.4
| ASW | 0.0 | 14.0 | 86.0
| CHB | 18.4 | 47.1 | 34.6
| CHD | 13.9 | 52.8 | 33.3
| GIH | 10.9 | 36.6 | 52.5
| LWK | 0.0 | 4.5 | 95.5
| MEX | 6.9 | 25.9 | 67.2
| MKK | 0.0 | 17.3 | 82.7
| TSI | 17.6 | 48.0 | 34.3
| HapMapRevision=28
}}[[rs8192678]] encodes a SNP also known as Gly482Ser; the (A) allele encodes the Ser. Some reports have linked this SNP to risk for [[hypertension]] and systolic blood pressure (SBP). 

However, a meta-analysis of 13,000+ individuals did not find any such association. However, gene-age interaction was apparent. For diastolic blood pressure (DBP), p(interaction)<0.0001; for systolic BP, p(interaction)=0.026. In younger individuals (<50yrs; n=2511) the [[rs8192678]](A) allele was associated with higher DBP (p=4.2 x 10<sup>-12</sup>) and SBP (p=7.2 x 10<sup>-12</sup>), but no association was evident for individuals over 50yrs (n=5088).{{PMID|18467552|OA=1
}}

{{PMID Auto
|PMID=19265027
|Title=Short-term exercise training does not stimulate skeletal muscle ATP synthesis in relatives of humans with type 2 diabetes
|OA=1
}}

{{PMID Auto
|PMID=18996470
|Title=Rapid and cost effective genotyping method for polymorphisms in PPARG, PPARGC1 and TCF7L2 genes
}}

{{PMID Auto
|PMID=19183932
|Title=PPARGC1A sequence variation and cardiovascular risk-factor levels: a study of the main genetic effects and gene x environment interactions in children from the European Youth Heart Study
}}
{{PMID Auto
|PMID=19828207
|Title=Evaluation of the association between the PPARGC1A genetic polymorphisms and type 2 diabetes in Han Chinese population
}}

{{PMID Auto
|PMID=20125101
|Title=Glucose levels and genetic variants across transcriptional pathways: interaction effects with BMI
}}

{{PMID Auto
|PMID=21595954
|Title=Association of PGC-1alpha polymorphisms with age of onset and risk of Parkinson's disease
|OA=1
}}

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

{{PMID|17216277|OA=1
}} PPARGC1A coding variation may initiate impaired NEFA clearance during glucose challenge.

{{PMID|17355643|OA=1
}} Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population.

{{PMID|17357083|OA=1
}} Medical sequencing at the extremes of human body mass.

{{PMID|17579564}} Polymorphisms of the peroxisome proliferator-activated receptor-gamma coactivator-1alpha gene are associated with hypertrophic cardiomyopathy and not with hypertension hypertrophy.

{{PMID|18162502|OA=1
}} PPARGC1A variation associated with DNA damage, diabetes, and cardiovascular diseases: the Boston Puerto Rican Health Study.

{{PMID|18331997}} [Association study between PPARGC1A Thr394Thr/ Gly482Ser polymorphisms and type 2 diabetes].

{{PMID|18599530|OA=1
}} Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients.

{{PMID|18603647|OA=1
}} Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

{{PMID|19070258}} Peroxisome proliferator-activated receptor gamma/Pro12Ala polymorphism and peroxisome proliferator-activated receptor gamma coactivator-1 alpha/Gly482Ser polymorphism in patients with sarcoidosis.

{{PMID|19133136|OA=1
}} The gene coding for PGC-1alpha modifies age at onset in Huntington's Disease.

{{PMID|19200361|OA=1
}} PGC-1alpha as modifier of onset age in Huntington disease.

{{PMID|19237423|OA=1
}} Is there an optimum endurance polygenic profile?

{{PMID|19360113|OA=1
}} The Role of the PGC1alpha Gly482Ser Polymorphism in Weight Gain due to Intensive Diabetes Therapy.

{{PMID|19422653}} Do PPARGC1A and PPARalpha polymorphisms influence sprint or endurance phenotypes?

{{PMID|19666693}} Is there an interaction between PPARD T294C and PPARGC1A Gly482Ser polymorphisms and human endurance performance?

{{PMID|21211002|OA=1
}} Localization of sequence variations in PGC-1alpha influence their modifying effect in Huntington disease.

{{PMID|22391941}} Meta-analysis of association studies between five candidate genes and type 2 diabetes in Chinese Han population.

{{GET Evidence
|gene=PPARGC1A
|aa_change=Gly482Ser
|aa_change_short=G482S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs8192678
|overall_frequency_n=2825
|overall_frequency_d=10758
|overall_frequency=0.262595
|n_genomes=29
|n_genomes_annotated=0
|n_haplomes=38
|n_articles=0
|n_articles_annotated=0
|nblosum100=2
|autoscore=0
|webscore=N
}}

{{PMID Auto
|PMID=23269818
|Title=A common variant in the peroxisome proliferator-activated receptor-γ coactivator-1α gene is associated with nonalcoholic fatty liver disease in obese children
}}

{{PMID Auto
|PMID=23354620
|Title=Association of genes involved in bile acid synthesis with the progression of primary biliary cirrhosis in Japanese patients
}}

{{PMID Auto
|PMID=23449621
|Title=Relationship of PGC-1α Gene Polymorphism With Insulin Resistance Syndrome in Korean Children
}}

{{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=24317794
|Title=Common variation at PPARGC1A/B and change in body composition and metabolic traits following preventive interventions: the Diabetes Prevention Program
}}

{{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=23186209
|Title=Mitochondriogenesis genes and extreme longevity.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}