This study aimed to analyze the influence of the peroxisome proliferator-activated receptor (PPAR)-gamma coactivator (PGC)-1 alpha (PPARGC1A) gene rs8192678 C>T polymorphism on different health-related parameters in male and female young adults. The PPARGC1A gene rs8192678 polymorphism was ascertained by polymerase chain reaction in 74 healthy adults (28 women; 22.72 ± 4.40 years) from Andalusia (Spain). Health-related variables included cardiometabolic risk, anthropometry and body composition, biochemical parameters, insulin sensitivity (QUICKI and HOMA-IR indexes), blood pressure (BP) at rest and after exercise, diet, basal metabolism, physical activity, maximal fat oxidation, and cardiorespiratory fitness. Our results showed differences by PPARGC1A gene rs8192678 C>T polymorphism in body mass ( = 0.002), body mass index ( = 0.024), lean body mass ( = 0.024), body fat ( = 0.032), waist circumference ( = 0.020), and BP recovery ratio ( < 0.001). The recessive model (CC vs. CT/TT) showed similar results but also with differences in basal metabolism ( = 0.045) and total energy expenditure ( = 0.024). A genotype*sex interaction was found in the QUICKI index ( = 0.016), with differences between CC and CT/TT in men ( = 0.049) and between men and women inside the CT/TT group ( = 0.049). Thus, the PPARGC1A gene rs8192678 C>T polymorphism is associated with body composition, basal metabolism, total energy expenditure, and BP recovery, where the CC genotype confers a protective effect. Moreover, our study highlighted sexual dimorphism in the influence of PPARGC1A gene rs8192678 C>T polymorphism on the QUICKI index.
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http://dx.doi.org/10.3389/fphys.2022.885185 | DOI Listing |
Genes (Basel)
December 2024
Exercise and Sport Science, Faculty of Health Sciences, Universidad Francisco de Vitoria, 28223 Pozuelo, Spain.
Background/objectives: The gene, encoding the PGC-1α protein, is a critical regulator of energy metabolism, influencing mitochondrial biogenesis, fatty acid oxidation, and carbohydrate metabolism. This narrative review aims to evaluate the role of the gene, with a specific focus on the c.1444G View Article and Find Full Text PDF
Front Endocrinol (Lausanne)
August 2023
Central Laboratory, Clinical Medical College and Affiliated Hospital of Chengdu University, Chengdu, Sichuan, China.
Background: The relationships of the rs17782313 polymorphism near melanocortin 4 receptor gene (MC4R) and the rs8192678 polymorphism in peroxisome proliferator-activated receptor gamma coactivator 1 alpha gene (PGC1α) with metabolic abnormalities have been explored in many populations around the world, but the findings were not all consistent and sometimes even a bit contradictory.
Methods: Electronic databases including Medline, Scopus, Embase, Web of Science, CNKI and Google Scholar were checked for studies that met the inclusion criteria. Data were carefully extracted from eligible studies.
Genes (Basel)
June 2023
Laboratory of Genetics of Aging and Longevity, Kazan State Medical University, 420012 Kazan, Russia.
Phenotypes of athletic performance and exercise capacity are complex traits influenced by both genetic and environmental factors. This update on the panel of genetic markers (DNA polymorphisms) associated with athlete status summarises recent advances in sports genomics research, including findings from candidate gene and genome-wide association (GWAS) studies, meta-analyses, and findings involving larger-scale initiatives such as the UK Biobank. As of the end of May 2023, a total of 251 DNA polymorphisms have been associated with athlete status, of which 128 genetic markers were positively associated with athlete status in at least two studies (41 endurance-related, 45 power-related, and 42 strength-related).
View Article and Find Full Text PDFJ Diabetes Res
May 2023
Endocrine and Metabolic Unit, Nutrition, Metabolism and Cardiovascular Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, Setia Alam, 40170 Shah Alam, Selangor Darul Ehsan, Malaysia.
Diabetologia
July 2023
Department of Clinical Sciences, Genetic and Molecular Epidemiology Unit, Clinical Research Centre, Lund University, Malmö, Sweden.
Aims/hypothesis: PPARGC1A encodes peroxisome proliferator-activated receptor γ coactivator 1-α (PGC-1α), a central regulator of energy metabolism and mitochondrial function. A common polymorphism in PPARGC1A (rs8192678, C/T, Gly482Ser) has been associated with obesity and related metabolic disorders, but no published functional studies have investigated direct allele-specific effects in adipocyte biology. We examined whether rs8192678 is a causal variant and reveal its biological function in human white adipose cells.
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