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PPARGC1B polymorphism

MedGen UID:
1676181
•Concept ID:
C5193213
•
Finding
Synonym: Obesity, variation in
 
OMIM®: 608886

Professional guidelines

PubMed

Systems genetics analysis of pharmacogenomics variation during antidepressant treatment.
Madsen MB, Kogelman LJA, Kadarmideen HN, Rasmussen HB
Pharmacogenomics J 2018 Jan;18(1):144-152. Epub 2016 Oct 18 doi: 10.1038/tpj.2016.68. PMID: 27752142

Recent clinical studies

Etiology

Genetic and Epigenetic Regulation of the Innate Immune Response to Gout.
de Lima JD, de Paula AGP, Yuasa BS, de Souza Smanioto CC, da Cruz Silva MC, Dos Santos PI, Prado KB, Winter Boldt AB, Braga TT
Immunol Invest 2023 Apr;52(3):364-397. Epub 2023 Feb 6 doi: 10.1080/08820139.2023.2168554. PMID: 36745138
Association between PPARγ, PPARGC1A, and PPARGC1B genetic variants and susceptibility of gastric cancer in an Eastern Chinese population.
Chen B, Wang Y, Tang W, Chen Y, Liu C, Kang M, Xie J
BMC Med Genomics 2022 Dec 31;15(1):274. doi: 10.1186/s12920-022-01428-0. PMID: 36587194Free PMC Article
PPARGC1B Is Associated with Nontraumatic Osteonecrosis of the Femoral Head: A Genomewide Association Study on a Chart-Reviewed Cohort.
Zhang Y, Bowen TR, Lietman SA, Suk M, Williams MS, Lee MTM
J Bone Joint Surg Am 2020 Sep 16;102(18):1628-1636. doi: 10.2106/JBJS.19.01335. PMID: 32701715
Genetic variants of PPAR-gamma coactivator 1B augment NLRP3-mediated inflammation in gouty arthritis.
Chang WC, Jan Wu YJ, Chung WH, Lee YS, Chin SW, Chen TJ, Chang YS, Chen DY, Hung SI
Rheumatology (Oxford) 2017 Mar 1;56(3):457-466. doi: 10.1093/rheumatology/kew337. PMID: 28394398
PPARγ and PPARGC1B polymorphisms modify the association between phthalate metabolites and breast cancer risk.
Martínez-Nava GA, Burguete-García AI, López-Carrillo L, Hernández-Ramírez RU, Madrid-Marina V, Cebrián ME
Biomarkers 2013 Sep;18(6):493-501. Epub 2013 Jul 18 doi: 10.3109/1354750X.2013.816776. PMID: 23866026

Diagnosis

The current role of NLRP3 inflammasome polymorphism in gout susceptibility.
Clavijo-Cornejo D, Hernández-González O, Gutierrez M
Int J Rheum Dis 2021 Oct;24(10):1257-1265. Epub 2021 Aug 14 doi: 10.1111/1756-185X.14205. PMID: 34390315
PPARGC1B Is Associated with Nontraumatic Osteonecrosis of the Femoral Head: A Genomewide Association Study on a Chart-Reviewed Cohort.
Zhang Y, Bowen TR, Lietman SA, Suk M, Williams MS, Lee MTM
J Bone Joint Surg Am 2020 Sep 16;102(18):1628-1636. doi: 10.2106/JBJS.19.01335. PMID: 32701715
Genetic variants associated with sleep disorders.
Kripke DF, Kline LE, Nievergelt CM, Murray SS, Shadan FF, Dawson A, Poceta JS, Cronin J, Jamil SM, Tranah GJ, Loving RT, Grizas AP, Hahn EK
Sleep Med 2015 Feb;16(2):217-24. Epub 2014 Dec 5 doi: 10.1016/j.sleep.2014.11.003. PMID: 25660813Free PMC Article
Top single nucleotide polymorphisms affecting carbohydrate metabolism in metabolic syndrome: from the LIPGENE study.
Delgado-Lista J, Perez-Martinez P, Solivera J, Garcia-Rios A, Perez-Caballero AI, Lovegrove JA, Drevon CA, Defoort C, Blaak EE, Dembinska-Kieć A, Risérus U, Herruzo-Gomez E, Camargo A, Ordovas JM, Roche H, Lopez-Miranda J
J Clin Endocrinol Metab 2014 Feb;99(2):E384-9. Epub 2013 Nov 7 doi: 10.1210/jc.2013-3165. PMID: 24203067
Genetic effect of single-nucleotide polymorphisms in the PPARGC1B gene on airway hyperreactivity in asthmatic patients.
Lee SH, Jang AS, Woo Park S, Park JS, Kim YK, Uh ST, Kim YH, Chung IY, Park BL, Shin HD, Park CS
Clin Exp Allergy 2011 Nov;41(11):1533-44. Epub 2011 Jun 21 doi: 10.1111/j.1365-2222.2011.03801.x. PMID: 21692888

Therapy

Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations.
Endo C, Johnson TA, Morino R, Nakazono K, Kamitsuji S, Akita M, Kawajiri M, Yamasaki T, Kami A, Hoshi Y, Tada A, Ishikawa K, Hine M, Kobayashi M, Kurume N, Tsunemi Y, Kamatani N, Kawashima M
Sci Rep 2018 Jun 12;8(1):8974. doi: 10.1038/s41598-018-27145-2. PMID: 29895819Free PMC Article
Genetic variants in PPARGC1B and CNTN4 are associated with thromboxane A(2) formation and with cardiovascular event free survival in the Anglo-Scandinavian Cardiac Outcomes Trial (ASCOT).
McCarthy NS, Vangjeli C, Surendran P, Treumann A, Rooney C, Ho E, Sever P, Thom S, Hughes AD, Munroe PB, Howard P, Johnson T, Caulfield M, Shields DC, O'Brien E, Fitzgerald DJ, Stanton AV
Atherosclerosis 2018 Feb;269:42-49. Epub 2017 Dec 8 doi: 10.1016/j.atherosclerosis.2017.12.013. PMID: 29258006Free PMC Article
Systems genetics analysis of pharmacogenomics variation during antidepressant treatment.
Madsen MB, Kogelman LJA, Kadarmideen HN, Rasmussen HB
Pharmacogenomics J 2018 Jan;18(1):144-152. Epub 2016 Oct 18 doi: 10.1038/tpj.2016.68. PMID: 27752142
Estrogen Signals Through Peroxisome Proliferator-Activated Receptor-γ Coactivator 1α to Reduce Oxidative Damage Associated With Diet-Induced Fatty Liver Disease.
Besse-Patin A, Léveillé M, Oropeza D, Nguyen BN, Prat A, Estall JL
Gastroenterology 2017 Jan;152(1):243-256. Epub 2016 Sep 20 doi: 10.1053/j.gastro.2016.09.017. PMID: 27658772
Common variation at PPARGC1A/B and change in body composition and metabolic traits following preventive interventions: the Diabetes Prevention Program.
Franks PW, Christophi CA, Jablonski KA, Billings LK, Delahanty LM, Horton ES, Knowler WC, Florez JC; Diabetes Prevention Program Research Group
Diabetologia 2014 Mar;57(3):485-90. Epub 2013 Dec 7 doi: 10.1007/s00125-013-3133-4. PMID: 24317794Free PMC Article

Prognosis

PPARGC1B Is Associated with Nontraumatic Osteonecrosis of the Femoral Head: A Genomewide Association Study on a Chart-Reviewed Cohort.
Zhang Y, Bowen TR, Lietman SA, Suk M, Williams MS, Lee MTM
J Bone Joint Surg Am 2020 Sep 16;102(18):1628-1636. doi: 10.2106/JBJS.19.01335. PMID: 32701715
The Role of Peroxisome Proliferator-Activated Receptors and Their Transcriptional Coactivators Gene Variations in Human Trainability: A Systematic Review.
Petr M, Stastny P, Zajac A, Tufano JJ, Maciejewska-Skrendo A
Int J Mol Sci 2018 May 15;19(5) doi: 10.3390/ijms19051472. PMID: 29762540Free PMC Article
Genetic variants in PPARGC1B and CNTN4 are associated with thromboxane A(2) formation and with cardiovascular event free survival in the Anglo-Scandinavian Cardiac Outcomes Trial (ASCOT).
McCarthy NS, Vangjeli C, Surendran P, Treumann A, Rooney C, Ho E, Sever P, Thom S, Hughes AD, Munroe PB, Howard P, Johnson T, Caulfield M, Shields DC, O'Brien E, Fitzgerald DJ, Stanton AV
Atherosclerosis 2018 Feb;269:42-49. Epub 2017 Dec 8 doi: 10.1016/j.atherosclerosis.2017.12.013. PMID: 29258006Free PMC Article

Clinical prediction guides

Genetic variants in PPARGC1B and CNTN4 are associated with thromboxane A(2) formation and with cardiovascular event free survival in the Anglo-Scandinavian Cardiac Outcomes Trial (ASCOT).
McCarthy NS, Vangjeli C, Surendran P, Treumann A, Rooney C, Ho E, Sever P, Thom S, Hughes AD, Munroe PB, Howard P, Johnson T, Caulfield M, Shields DC, O'Brien E, Fitzgerald DJ, Stanton AV
Atherosclerosis 2018 Feb;269:42-49. Epub 2017 Dec 8 doi: 10.1016/j.atherosclerosis.2017.12.013. PMID: 29258006Free PMC Article
Estrogen Signals Through Peroxisome Proliferator-Activated Receptor-γ Coactivator 1α to Reduce Oxidative Damage Associated With Diet-Induced Fatty Liver Disease.
Besse-Patin A, Léveillé M, Oropeza D, Nguyen BN, Prat A, Estall JL
Gastroenterology 2017 Jan;152(1):243-256. Epub 2016 Sep 20 doi: 10.1053/j.gastro.2016.09.017. PMID: 27658772
PPARGC1B gene is associated with Kashin-Beck disease in Han Chinese.
Wen Y, Hao J, Xiao X, Wang W, Guo X, Lin W, Yang T, Liu X, Shen H, Tan L, Chen X, Tian Q, Deng HW, Zhang F
Funct Integr Genomics 2016 Jul;16(4):459-63. Epub 2016 Apr 23 doi: 10.1007/s10142-016-0496-x. PMID: 27108113
Analysis of clinical indexes and RUNX3, TBKBP1, PPARGC1B polymorphisms in Chinese Han patients with ankylosing spondylitis.
Liu J, Lian Z, Xiao Y, Shi LL, Chai W, Wang Y
Genet Test Mol Biomarkers 2015 Jan;19(1):37-43. doi: 10.1089/gtmb.2014.0194. PMID: 25494292
Genetic variation of ESR1 and its co-activator PPARGC1B is synergistic in augmenting the risk of estrogen receptor-positive breast cancer.
Li Y, Li Y, Wedrén S, Li G, Charn TH, Desai KV, Bonnard C, Czene K, Humphreys K, Darabi H, Einarsdóttir K, Heikkinen T, Aittomäki K, Blomqvist C, Chia KS, Nevanlinna H, Hall P, Liu ET, Liu J
Breast Cancer Res 2011 Jan 26;13(1):R10. doi: 10.1186/bcr2817. PMID: 21269472Free PMC Article

Recent systematic reviews

The Role of Peroxisome Proliferator-Activated Receptors and Their Transcriptional Coactivators Gene Variations in Human Trainability: A Systematic Review.
Petr M, Stastny P, Zajac A, Tufano JJ, Maciejewska-Skrendo A
Int J Mol Sci 2018 May 15;19(5) doi: 10.3390/ijms19051472. PMID: 29762540Free PMC Article

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