rs8192678

minus

Geno	Mag	Summary
(A;A)		higher blood pressure if <50
(A;G)		higher blood pressure if <50
(G;G)	0	normal

Reference

GRCh38 38.1/141

Chromosome

4

Position

23814039

Gene

PPARGC1A

is a	snp
is	mentioned by
dbSNP	rs8192678
dbSNP (classic)	rs8192678
ClinGen	rs8192678
ebi	rs8192678
HLI	rs8192678
Exac	rs8192678
Gnomad	rs8192678
Varsome	rs8192678
LitVar	rs8192678
Map	rs8192678
PheGenI	rs8192678
Biobank	rs8192678
1000 genomes	rs8192678
hgdp	rs8192678
ensembl	rs8192678
geneview	rs8192678
scholar	rs8192678
google	rs8192678
pharmgkb	rs8192678
gwascentral	rs8192678
openSNP	rs8192678
23andMe	rs8192678
SNPshot	rs8192678
SNPdbe	rs8192678
MSV3d	rs8192678
GWAS Ctlg	rs8192678

GMAF

0.2911

Max Magnitude

0

?

(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 18467552 ]

[PMID 19265027 ] 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 21595954 ] 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 17216277 ] PPARGC1A coding variation may initiate impaired NEFA clearance during glucose challenge.

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

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

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

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

[PMID 19237423 ] Is there an optimum endurance polygenic profile?

[PMID 19360113 ] 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 ] 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.

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

[PMID 24317794 ] 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 25923461 ] 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

[PMID 29186342] Linking Metabolic Disease with the PGC-1α Gly482Ser polymorphism.

[PMID 30041843] Genetic susceptibility to pre diabetes mellitus and related association with obesity and physical fitness components in Mexican-Mestizos.

[PMID 30393491 ] Association of common polymorphisms in the VEGFA and SIRT1 genes with type 2 diabetes-related traits in Mexicans.

[PMID 32721231] Assessment of PPARGC1A, PPARGC1B, and PON1 Genetic Polymorphisms in Esophageal Squamous Cell Carcinoma Susceptibility in the Eastern Chinese Han Population: A Case-Control Study Involving 2351 Subjects.