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: rs7667050
rs7667050
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0017654
Disease:
Glomerular Filtration Rate
T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs8192678
rs8192678
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.030 GeneticVariation BEFREE A common polymorphism in this gene (rs8192678, encoding Gly482Ser) has been associated with NAFLD. 27658772 2017
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
dbSNP: rs12650199
rs12650199
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs16874921
rs16874921
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs2970855
rs2970855
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs4619879
rs4619879
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs4697046
rs4697046
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs6448226
rs6448226
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs7679405
rs7679405
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs34751092
rs34751092
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0339682
Disease:
Regular astigmatism - corneal
A 0.700 GeneticVariation GWASCAT A genome-wide association study of corneal astigmatism: The CREAM Consortium. 29422769 2018
dbSNP: rs8192678
rs8192678
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE A single nucleotide variant of the PPARGC1A gene (rs8192678) is associated with T2D susceptibility, relative risk of obesity and insulin resistance, and lower indices of β cell function. 29186342 2018
dbSNP: rs8192678
rs8192678
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0028754
Disease:
Obesity
0.080 GeneticVariation BEFREE A single nucleotide variant of the PPARGC1A gene (rs8192678) is associated with T2D susceptibility, relative risk of obesity and insulin resistance, and lower indices of β cell function. 29186342 2018
dbSNP: rs8192678
rs8192678
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE A widespread Gly482Ser polymorphism of PGC-1 is associated with a 1.34 genotype relative risk of Type II diabetes. 11793024 2001
dbSNP: rs8192678
rs8192678
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0020538
Disease:
Hypertensive disease
0.100 GeneticVariation BEFREE After adjusting for age, sex, body mass index, and antihypertensive medication, G482S and +2962A/G polymorphisms were significantly associated with systolic blood pressures in hypertension patients with medication use (p = 0.023 and 0.022 for G482S and +2962A/G respectively) but not in all participants, normotensives, and patients with no medication use. 17971240 2007
dbSNP: rs17590046
rs17590046
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0270736
Disease:
Essential Tremor
0.730 GeneticVariation BEFREE After Bonferroni correction two markers, one (rs10937625) located in the serine/threonine kinase STK32B and one (rs17590046) in the transcriptional coactivator PPARGC1A were associated with essential tremor. 27797806 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: rs8192678
rs8192678
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE All polymorphisms were in Hardy-Weinberg equilibrium, and the association by genotype with T2D-related traits displayed nominal significance for rs8192678 with glucose (<i>p</i> = 0.023) and triglycerides (<i>p</i> = 0.013); rs2010963 with diastolic blood pressure (DBP) (<i>p</i> = 0.012) and cholesterol (<i>p</i> = 0.013); rs7896005 with DBP (<i>p</i> = 0.012) and insulin (<i>p</i> = 0.011); and rs659366 with cholesterol (<i>p</i> = 0.034), glucose (<i>p</i> = 0.031) and triglycerides (<i>p</i> = 0.028); and the association of rs2010963 with HDL-C (<i>p</i> = 0.0007) was significant. 30393491 2018
dbSNP: rs8192678
rs8192678
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.030 GeneticVariation BEFREE Although clinical evidence suggests that Gly482Ser polymorphism of PGC-1α is associated with an increased incidence of nonalcoholic fatty liver disease, a direct role for Gly482Ser mutation in altering PGC-1α actions on hepatocyte fat deposition remains to be explored. 23602251 2013
dbSNP: rs8192678
rs8192678
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0020538
Disease:
Hypertensive disease
0.100 GeneticVariation BEFREE Among the 3 polymorphic sites, genotype distributions associated with Gly482Ser differed by hypertension status in men (P=0.0038), but not in women. 12574109 2003
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: 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