PPARGC1A, PPARG coactivator 1 alpha, 10891

N. diseases: 350; N. variants: 42
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60571065
rs60571065
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE The combined results of two datasets showed that two independent, potentially functional SNPs (i.e., HDAC2 rs13213007G>A and PPARGC1A rs60571065T>A) were significantly associated with NSCLC overall survival, with a combined hazards ratio (HR) of 1.26 (95% confidence interval (CI), 1.09-1.45; P = .002) and 1.23 (1.04-1.47; P = .017), respectively. 31713888 2020
dbSNP: rs2970847
rs2970847
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0009402
Disease:
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
dbSNP: rs3736265
rs3736265
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0009402
Disease:
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
dbSNP: rs777169839
rs777169839
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0006118
Disease:
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
dbSNP: rs777169839
rs777169839
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0027651
Disease:
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
dbSNP: rs8192678
rs8192678
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0009402
Disease:
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
dbSNP: rs8192678
rs8192678
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0002965
Disease:
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
dbSNP: rs17574213
rs17574213
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE The rs17574213 polymorphism was associated with obesity onset in children aged <1 years and 10-18 years. 29879371 2018
dbSNP: rs6821591
rs6821591
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0426980
Disease:
Motor symptoms
0.010 GeneticVariation BEFREE PPARGC1α rs6821591 was also associated with faster motor symptom progression as measured with the UPDRS-III (β = 0.234; p = 0.001). 29630901 2018
dbSNP: rs10212638
rs10212638
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE These data suggest that Koreans with the minor alleles of PGC-1α rs10517030, rs10517032 and rs10212638 are at greater risk of T2DM, and that a low-energy diet is more protective against the development of T2DM in subjects with the major alleles of rs10517030 and rs10517032. 28488691 2017
dbSNP: rs10517030
rs10517030
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE These data suggest that Koreans with the minor alleles of PGC-1α rs10517030, rs10517032 and rs10212638 are at greater risk of T2DM, and that a low-energy diet is more protective against the development of T2DM in subjects with the major alleles of rs10517030 and rs10517032. 28488691 2017
dbSNP: rs10517032
rs10517032
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE These data suggest that Koreans with the minor alleles of PGC-1α rs10517030, rs10517032 and rs10212638 are at greater risk of T2DM, and that a low-energy diet is more protective against the development of T2DM in subjects with the major alleles of rs10517030 and rs10517032. 28488691 2017
dbSNP: rs2970870
rs2970870
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE An association of cancer aggressiveness with rs2970870 of PPARGC1A, and rs501299 of ADIPOQ, as well as with one haplotype of ADIPOQ was documented. 28453464 2017
dbSNP: rs2970870
rs2970870
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE An association of cancer aggressiveness with rs2970870 of PPARGC1A, and rs501299 of ADIPOQ, as well as with one haplotype of ADIPOQ was documented. 28453464 2017
dbSNP: rs3774921
rs3774921
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0009402
Disease:
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
dbSNP: rs3774921
rs3774921
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
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
dbSNP: rs8192678
rs8192678
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C2711227
Disease:
Steatohepatitis
0.010 GeneticVariation BEFREE The PPARGC1A rs8192678 GA/AA genotype was associated with higher steatosis grade and presence of ballooning degeneration. 27015186 2016
dbSNP: rs8192678
rs8192678
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C4529962
Disease:
Fatty Liver Disease
0.010 GeneticVariation BEFREE Further, there was an additive effect of the PPARGC1A rs8192678 GA/AA genotype and the PNPLA3 rs738409 GG genotype on the presence of NASH (OR 6.83; 95% CI 1.61-29.01; P = 0.009).The PPARGC1A rs8192678 GA/AA genotype and the PNPLA3 rs738409 GG genotype had an additive effect on NASH in severely obese Taiwanese patients. 27015186 2016
dbSNP: rs8192678
rs8192678
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0010054
Disease:
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
dbSNP: rs4235308
rs4235308
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE After stratification with sex, in Haitian Americans, both rs4235308</span> (OR = 0.38, P = 0.026) and rs7656250 (OR = 0.23, P = 0.006) showed protective association with T2D in females whereas in African American males rs7656250 had statistically significant protective effect on T2D (OR = 0.37, P = 0.043). 25977930 2015
dbSNP: rs7656250
rs7656250
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE After stratification with sex, in Haitian Americans, both rs4235308 (OR = 0.38, P = 0.026) and rs7656250 (OR = 0.23, P = 0.006) showed protective association with T2D in females whereas in African American males rs7656250 had statistically significant protective effect on T2D (OR = 0.37, P = 0.043). 25977930 2015
dbSNP: rs3736265
rs3736265
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0020179
Disease:
Huntington Disease
0.010 GeneticVariation BEFREE We report that a coding variant (rs3736265) in PPARGC1A is associated with an earlier motor AO in men but not women carrying the HD mutation. 24383721 2014
dbSNP: rs8192678
rs8192678
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0149721
Disease:
Left Ventricular Hypertrophy
0.010 GeneticVariation BEFREE In conclusion, in hypertensive patients, the PPARGC1A Gly482Ser polymorphism is associated with LV hypertrophy and diastolic dysfunction, with the presence of the Ser-Ser allele promoting these abnormalities. 24718382 2014
dbSNP: rs3736265
rs3736265
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0242383
Disease:
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
dbSNP: rs3774923
rs3774923
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0242383
Disease:
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