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rs8192678

From SNPedia

Orientationminus
Stabilizedminus
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
Chromosome4
Position23814039
GenePPARGC1A
is asnp
is mentioned by
dbSNPrs8192678
ebirs8192678
HLIrs8192678
Exacrs8192678
Varsomers8192678
Maprs8192678
PheGenIrs8192678
hapmaprs8192678
1000 genomesrs8192678
hgdprs8192678
ensemblrs8192678
gopubmedrs8192678
geneviewrs8192678
scholarrs8192678
googlers8192678
pharmgkbrs8192678
gwascentralrs8192678
openSNPrs8192678
23andMers8192678
23andMe allrs8192678
SNP Nexus

SNPshotrs8192678
SNPdbers8192678
MSV3drs8192678
GWAS Ctlgrs8192678
GMAF0.2911
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
PPARGC1A-G482S
aa_change Gly482Ser
aa_change_short G482S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.262595
summary



[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