Cinthia Vila Nova Santana, Luiz Alexandre Viana Magno, Adauto Versiani Ramos, Maria Angélica Rios, Valéria Cristina Sandrim, Luiz Armando De Marco, Débora Marques de Miranda, Marco Aurélio Romano-Silva
{"title":"Genetic Variations in <i>AMPK</i>, <i>FOXO3A</i>, and <i>POMC</i> Increase the Risk of Extreme Obesity.","authors":"Cinthia Vila Nova Santana, Luiz Alexandre Viana Magno, Adauto Versiani Ramos, Maria Angélica Rios, Valéria Cristina Sandrim, Luiz Armando De Marco, Débora Marques de Miranda, Marco Aurélio Romano-Silva","doi":"10.1155/2024/3813621","DOIUrl":null,"url":null,"abstract":"<p><p><b>Objective:</b> Genetic variability significantly impacts metabolism, weight gain, and feeding behaviors, predisposing individuals to obesity. This study explored how variations in key genes related to obesity-<i>FOXO3A</i> (forkhead box O3), <i>AMPK</i> (protein kinase AMP-activated), and <i>POMC</i> (proopiomelanocortin)-are associated with extreme obesity (EOB). <b>Methods:</b> We conducted a case-control study with 251 EOB patients and 212 healthy controls with a body mass index (BMI) of less than 25 kg/m<sup>2</sup>. We genotyped 10 single nucleotide variants (SNVs) using TaqMan-based assays. <b>Results:</b> Four SNVs-rs1536057 in <i>FOXO3A</i>, rs103685 in <i>AMPK</i>, rs934778, and rs6545975 in <i>POMC</i>-were associated with an increased risk of EOB. The strongest association was observed with rs934778 (<i>POMC</i>), which had a maximum odds ratio (OR) of 5.26 (95% CI: 2.86-9.09). While these genetic variations are closely linked to EOB, they do not affect serum glucose, triglycerides, HDL, LDL, BMI, or waist circumference. <b>Conclusions:</b> These findings indicate that factors beyond traditional metabolic pathways, potentially related to feeding behavior or hormonal regulation, may also link these genetic variations to obesity. Further research in a larger sample is essential to validate these findings and explore their potential to guide clinical interventions and public health strategies.</p>","PeriodicalId":16628,"journal":{"name":"Journal of Obesity","volume":null,"pages":null},"PeriodicalIF":3.8000,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11527528/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Obesity","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2024/3813621","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0
Abstract
Objective: Genetic variability significantly impacts metabolism, weight gain, and feeding behaviors, predisposing individuals to obesity. This study explored how variations in key genes related to obesity-FOXO3A (forkhead box O3), AMPK (protein kinase AMP-activated), and POMC (proopiomelanocortin)-are associated with extreme obesity (EOB). Methods: We conducted a case-control study with 251 EOB patients and 212 healthy controls with a body mass index (BMI) of less than 25 kg/m2. We genotyped 10 single nucleotide variants (SNVs) using TaqMan-based assays. Results: Four SNVs-rs1536057 in FOXO3A, rs103685 in AMPK, rs934778, and rs6545975 in POMC-were associated with an increased risk of EOB. The strongest association was observed with rs934778 (POMC), which had a maximum odds ratio (OR) of 5.26 (95% CI: 2.86-9.09). While these genetic variations are closely linked to EOB, they do not affect serum glucose, triglycerides, HDL, LDL, BMI, or waist circumference. Conclusions: These findings indicate that factors beyond traditional metabolic pathways, potentially related to feeding behavior or hormonal regulation, may also link these genetic variations to obesity. Further research in a larger sample is essential to validate these findings and explore their potential to guide clinical interventions and public health strategies.
期刊介绍:
Journal of Obesity is a peer-reviewed, Open Access journal that provides a multidisciplinary forum for basic and clinical research as well as applied studies in the areas of adipocyte biology & physiology, lipid metabolism, metabolic syndrome, diabetes, paediatric obesity, genetics, behavioural epidemiology, nutrition & eating disorders, exercise & human physiology, weight control and health risks associated with obesity.