|
rs687706
|
PPARGC1A
|
Adolescent idiopathic scoliosis
|
|
0.700 |
GeneticVariation |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
rs200187877
|
PPARGC1A
|
Adult Glioblastoma
|
|
0.010 |
GeneticVariation |
BEFREE |
To identify functional binding sites of mutp53, we established a small library of genomic sequences bound by p53(R273H) in U251 human glioblastoma cells using chromatin immunoprecipitation (ChIP).
|
19139068 |
2009 |
|
rs3736265
|
PPARGC1A
|
Age related macular degeneration
|
|
0.010 |
GeneticVariation |
BEFREE |
A DNA coding variant (rs3736265) and a 3'UTR-resident regulatory variant (rs3774923) in PPARGC1A were independently associated with NV AMD (exact P = 0.003, both SNPs).
|
23335958 |
2013 |
|
rs3774923
|
PPARGC1A
|
Age related macular degeneration
|
|
0.010 |
GeneticVariation |
BEFREE |
A DNA coding variant (rs3736265) and a 3'UTR-resident regulatory variant (rs3774923) in PPARGC1A were independently associated with NV AMD (exact P = 0.003, both SNPs).
|
23335958 |
2013 |
|
rs4568225
|
PPARGC1A
|
Amyotrophic Lateral Sclerosis
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.
|
17362836 |
2007 |
|
rs8192678
|
PPARGC1A
|
Angina, Unstable
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study we examined PPARA: rs4253778, rs1800206, PPARD: rs2267668, rs2016520, rs1053049, PPARG rs1801282 and PPARGC1A rs8192678 polymorphisms in patients with unstable angina.
|
31252163 |
2019 |
|
rs12501032
|
PPARGC1A
|
Arthritis, Gouty
|
|
0.700 |
GeneticVariation |
GWASCAT |
Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.
|
22179738 |
2012 |
|
rs777169839
|
PPARGC1A
|
Brain Neoplasms
|
|
0.010 |
GeneticVariation |
BEFREE |
Expression of PGC-1α K224R mutant significantly increases mitochondrial biogenesis, reactive oxygen species (ROS) production, and tumor cell apoptosis under hypoxia and inhibits brain tumor growth in mice.
|
31629659 |
2019 |
|
rs3736265
|
PPARGC1A
|
Breast Cancer, Familial
|
|
0.010 |
GeneticVariation |
BEFREE |
The analysis of 816 BRCA1/2 mutation-negative familial breast cancer patients and 1012 controls revealed an association of the PPARGC1A Thr612Met polymorphism with familial breast cancer (OR = 1.35, 95% CI 1.00-1.81, P = 0.049), high-risk familial breast cancer (OR = 1.51, 95% CI 1.08-2.12, P = 0.017) and bilateral familial breast cancer (OR = 2.30, 95% CI 1.24-4.28, P = 0.009).
|
16704985 |
2006 |
|
rs3736265
|
PPARGC1A
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
The genotype-combination analysis of the associated PPARGC1A Thr612Met variant and the associated PPARGC1B Ala203Pro variant suggests an allele dose-dependent breast cancer risk (P(trend) = 0.0004).
|
16704985 |
2006 |
|
rs924038259
|
PPARGC1A
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
The genotype-combination analysis of the associated PPARGC1A Thr612Met variant and the associated PPARGC1B Ala203Pro variant suggests an allele dose-dependent breast cancer risk (P(trend) = 0.0004).
|
16704985 |
2006 |
|
rs200187877
|
PPARGC1A
|
Childhood Glioblastoma
|
|
0.010 |
GeneticVariation |
BEFREE |
To identify functional binding sites of mutp53, we established a small library of genomic sequences bound by p53(R273H) in U251 human glioblastoma cells using chromatin immunoprecipitation (ChIP).
|
19139068 |
2009 |
|
rs2970847
|
PPARGC1A
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
We selected the <i>PPARG</i> rs3856806 C>T, <i>PPARGC1A</i> rs2970847 C>T, rs8192678 C>T, rs3736265 G>A and <i>PPARGC1B</i> rs7732671 G>C and rs17572019 G>A SNPs to assess the relationship between <i>PPARG, PPARGC1A, PPARGC1B</i> their variants and risk of CRC.
|
30838172 |
2019 |
|
rs3736265
|
PPARGC1A
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
We selected the <i>PPARG</i> rs3856806 C>T, <i>PPARGC1A</i> rs2970847 C>T, rs8192678 C>T, rs3736265 G>A and <i>PPARGC1B</i> rs7732671 G>C and rs17572019 G>A SNPs to assess the relationship between <i>PPARG, PPARGC1A, PPARGC1B</i> their variants and risk of CRC.
|
30838172 |
2019 |
|
rs3774921
|
PPARGC1A
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Among the investigated polymorphisms, heterozygous carriers of rs3774921 in PPARGC1A showed a higher risk of colorectal cancer (OR [95% CI] = 1.26 [1.02-1.55] for TC vs. TT).
|
28051997 |
2017 |
|
rs8192678
|
PPARGC1A
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
We selected the <i>PPARG</i> rs3856806 C>T, <i>PPARGC1A</i> rs2970847 C>T, rs8192678 C>T, rs3736265 G>A and <i>PPARGC1B</i> rs7732671 G>C and rs17572019 G>A SNPs to assess the relationship between <i>PPARG, PPARGC1A, PPARGC1B</i> their variants and risk of CRC.
|
30838172 |
2019 |
|
rs8192678
|
PPARGC1A
|
Coronary Arteriosclerosis
|
|
0.010 |
GeneticVariation |
BEFREE |
The combined PPARγ C1431T, PGC-1α G482S, and LXRα -115G/A polymorphisms increased the risk of CAD and predicted the severity of coronary atherosclerosis in Thais.
|
27016616 |
2016 |
|
rs8192678
|
PPARGC1A
|
Coronary Artery Disease
|
|
0.030 |
GeneticVariation |
BEFREE |
The combined PPARγ C1431T, PGC-1α G482S, and LXRα -115G/A polymorphisms increased the risk of CAD and predicted the severity of coronary atherosclerosis in Thais.
|
27016616 |
2016 |
|
rs8192678
|
PPARGC1A
|
Coronary Artery Disease
|
|
0.030 |
GeneticVariation |
BEFREE |
In this study, we evaluate whether the PPARGC1A Gly482Ser, PPARG3 (-681)C/G, PPARD +294T/C, and CYBA +242C/T gene variants confer the risk of CAD in a Russian population.
|
20512451 |
2010 |
|
rs8192678
|
PPARGC1A
|
Coronary Artery Disease
|
|
0.030 |
GeneticVariation |
BEFREE |
The XA (GA + AA) genotype of Gly482Ser displayed a higher frequency in CAD patients than that in control subjects (P = 0.019; adjusted odds ratio = 1.53; 95% confidence interval 1.06-2.20).
|
18565194 |
2008 |
|
rs8192678
|
PPARGC1A
|
Diabetes
|
|
0.050 |
GeneticVariation |
BEFREE |
In population studies a Gly482Ser substitution in PGC-1alpha has been reported to be associated with increased risk of type diabetes 2 and insulin resistance.
|
16403952 |
2005 |
|
rs8192678
|
PPARGC1A
|
Diabetes
|
|
0.050 |
GeneticVariation |
BEFREE |
The Gly482Ser variant in the peroxisome proliferator-activated receptor gamma coactivator-1 is not associated with diabetes-related traits in non-diabetic German and Dutch populations.
|
15146371 |
2004 |
|
rs8192678
|
PPARGC1A
|
Diabetes
|
|
0.050 |
GeneticVariation |
BEFREE |
To address this question we studied expression of these genes in muscle biopsies obtained from young and elderly dizygotic and monozygotic twins without known diabetes before and after insulin stimulation and related the expression to a Gly482Ser variant in the PGC-1alpha gene.
|
15546003 |
2004 |
|
rs8192678
|
PPARGC1A
|
Diabetes
|
|
0.050 |
GeneticVariation |
BEFREE |
This review summarizes a growing body of literature surrounding possible links between the PGC-1α Gly482Ser single nucleotide polymorphism and diabetes, with focus on key clinical findings, affected metabolic systems, potential molecular mechanisms, and the influence of geographical or ethnic background on associated risk.
|
29186342 |
2018 |
|
rs8192678
|
PPARGC1A
|
Diabetes
|
|
0.050 |
GeneticVariation |
BEFREE |
The Gly482Ser polymorphism in peroxisome proliferator-activated receptor gamma coactivator-1 alpha (PPARGC1A) has been demonstrated to be associated with diabetes, obesity and hypertension, all of which are important risk factors for left ventricular diastolic dysfunction.
|
19077249 |
2008 |