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From SNPedia

Geno Mag Summary
(A;A) higher blood pressure if <50
(A;G) higher blood pressure if <50
(G;G) 0 normal
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs8192678
23andMe allrs8192678
SNP Nexus

GWAS Ctlgrs8192678
Max Magnitude0
? (A;A) (A;G) (G;G) 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 10-12) and SBP (p=7.2 x 10-12), but no association was evident for individuals over 50yrs (n=5088).[PMID 18467552OA-icon.png]

[PMID 19265027OA-icon.png] Short-term exercise training does not stimulate skeletal muscle ATP synthesis in relatives of humans with type 2 diabetes

[PMID 18996470] Rapid and cost effective genotyping method for polymorphisms in PPARG, PPARGC1 and TCF7L2 genes

[PMID 19183932] 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 19828207] Evaluation of the association between the PPARGC1A genetic polymorphisms and type 2 diabetes in Han Chinese population

[PMID 20125101] Glucose levels and genetic variants across transcriptional pathways: interaction effects with BMI

[PMID 21595954OA-icon.png] Association of PGC-1alpha polymorphisms with age of onset and risk of Parkinson's disease

[PMID 17187763] Analysis of PGC-1alpha variants Gly482Ser and Thr612Met concerning their PPARgamma2-coactivation function.

[PMID 17216277OA-icon.png] PPARGC1A coding variation may initiate impaired NEFA clearance during glucose challenge.

[PMID 17355643OA-icon.png] Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population.

[PMID 17357083OA-icon.png] 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 18162502OA-icon.png] 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 18599530OA-icon.png] Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients.

[PMID 18603647OA-icon.png] 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 19133136OA-icon.png] The gene coding for PGC-1alpha modifies age at onset in Huntington's Disease.

[PMID 19200361OA-icon.png] PGC-1alpha as modifier of onset age in Huntington disease.

[PMID 19237423OA-icon.png] Is there an optimum endurance polygenic profile?

[PMID 19360113OA-icon.png] 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 21211002OA-icon.png] 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
aa_change Gly482Ser
aa_change_short G482S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.262595

[PMID 23269818] A common variant in the peroxisome proliferator-activated receptor-γ coactivator-1α gene is associated with nonalcoholic fatty liver disease in obese children

[PMID 23354620] Association of genes involved in bile acid synthesis with the progression of primary biliary cirrhosis in Japanese patients

[PMID 23449621] Relationship of PGC-1α Gene Polymorphism With Insulin Resistance Syndrome in Korean Children

[PMID 23741228OA-icon.png] Lack of Genetic Associations of PPAR-γ and PGC-1α with Alzheimer's Disease and Parkinson's Disease with Dementia

[PMID 24317794OA-icon.png] Common variation at PPARGC1A/B and change in body composition and metabolic traits following preventive interventions: the Diabetes Prevention Program

[PMID 22038464] Moderate effects of apple juice consumption on obesity-related markers in obese men: impact of diet-gene interaction on body fat content.

[PMID 23186209] Mitochondriogenesis genes and extreme longevity.

[PMID 25923461OA-icon.png] IGF2, LEPR, POMC, PPARG, and PPARGC1 gene variants are associated with obesity-related risk phenotypes in Brazilian children and adolescents

[PMID 26579581] Genetic and environmental predictors of chronic kidney disease in patients with type 2 diabetes and diabetic foot ulcer: a pilot study