rs8192678
A SNP in the PPARGC1A gene on chromosome 4. Its most notable genotype is T;T: higher blood pressure if <50
- Gene
- PPARGC1A
- Location
- Chr 423,814,039 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 29%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs8192678 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageT;T 10% C;T 31% C;C 58%
- European ancestry (Utah)T;T 15% C;T 40% C;C 45%
- Han Chinese (Beijing)T;T 18% C;T 47% C;C 35%
- Japanese (Tokyo)T;T 27% C;T 51% C;C 21%
- Yoruba (Nigeria)T;T <1% C;T 9% C;C 90%
- African ancestry (Southwest US)T;T 0% C;T 14% C;C 86%
- Chinese (Denver)T;T 14% C;T 53% C;C 33%
- Gujarati IndianT;T 11% C;T 37% C;C 53%
- Luhya (Kenya)T;T 0% C;T 5% C;C 96%
- Mexican ancestry (Los Angeles)T;T 7% C;T 26% C;C 67%
- Maasai (Kenya)T;T 0% C;T 17% C;C 83%
- TuscanT;T 18% C;T 48% C;C 34%
Related
Other PPARGC1A SNPs
Notes
From SNPedia
Show notes, about 400 words
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) -12 ) and SBP (p=7.2 x 10 -12 ), but no association was evident for individuals over 50yrs (n=5088). Analysis of PGC-1alpha variants Gly482Ser and Thr612Met concerning their PPARgamma2-coactivation function. PPARGC1A coding variation may initiate impaired NEFA clearance during glucose challenge. Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population. Medical sequencing at the extremes of human body mass. Polymorphisms of the peroxisome proliferator-activated receptor-gamma coactivator-1alpha gene are associated with hypertrophic cardiomyopathy and not with hypertension hypertrophy. PPARGC1A variation associated with DNA damage, diabetes, and cardiovascular diseases: the Boston Puerto Rican Health Study. [Association study between PPARGC1A Thr394Thr/ Gly482Ser polymorphisms and type 2 diabetes]. Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients. Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response. Peroxisome proliferator-activated receptor gamma/Pro12Ala polymorphism and peroxisome proliferator-activated receptor gamma coactivator-1 alpha/Gly482Ser polymorphism in patients with sarcoidosis. The gene coding for PGC-1alpha modifies age at onset in Huntington's Disease. PGC-1alpha as modifier of onset age in Huntington disease. Is there an optimum endurance polygenic profile? The Role of the PGC1alpha Gly482Ser Polymorphism in Weight Gain due to Intensive Diabetes Therapy. Do PPARGC1A and PPARalpha polymorphisms influence sprint or endurance phenotypes? Is there an interaction between PPARD T294C and PPARGC1A Gly482Ser polymorphisms and human endurance performance? Localization of sequence variations in PGC-1alpha influence their modifying effect in Huntington disease. Meta-analysis of association studies between five candidate genes and type 2 diabetes in Chinese Han population.
Source and license
Adapted from rs8192678 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.