782 https://oamjms.eu/index.php/mjms/index Scientifc Foundation SPIROSKI, Skopje, Republic of Macedonia Open Access Macedonian Journal of Medical Sciences. 2022 Apr 04; 10(A):782-786. https://doi.org/10.3889/oamjms.2022.9185 eISSN: 1857-9655 Category: A - Basic Sciences Section: Gentics Perilipin Genetic Variation Correlated with Obesity and Lipid Profle in Metabolic Syndrome Pramudji Hastuti 1 * , Rosdiana Mus 2 , Anggelia Puspasari 3 , Citra Maharani 3 , Ika Setyawati 4 1 Department of Biochemistry, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia; 2 Department of Technology Medical Laboratory, Faculty of Health Technology, Universitas Mega Rezky, Makasar, Indonesia; 3 Department of Medical Biology and Biochemistry, Faculty of Medicine and Health Science, Universitas Jambi, Indonesia; 4 Department of Biochemistry, Faculty of Medicine and Health Science, Universitas Muhammadiyah Yogyakarta, Yogyakarta, Indonesia Abstract BACKGROUND: Perilipin is very important for the regulation of the deposition and mobilization of fats. The human perilipin gene (PLIN) is near the locus for risk of obesity and hypertriglyceridemia. The PLIN gene is thought to be involved in the occurrence of metabolic syndrome. AIM: The aim of this research is to determine the role of variations of the PLIN gene (PLN4 11482 G>A) as a risk factor for component of metabolic syndrome. METHODS: This study involved a total of 160 subjects consisting of 80 with metabolic syndrome and 80 controls. Genotype analysis was done with the polymerase chain reaction-restriction fragment length polymorphism method. The data were analyzed with t-tests to compare the subjects’ characteristics between metabolic syndrome groups and controls. Risk factors of PLIN genotypes were calculated with odds ratio and multivariate regression analysis was used to determine the role of the PLIN gene with each biochemical characteristic. RESULTS: The result was signifcant diferences between the characteristics of the metabolic syndrome subjects with controls (p < 0.05). There was no diference in genotypes between patients with metabolic syndrome and controls. The multivariate analysis of the genetic role with biochemical components showed the PLIN gene in AA carriers as a risk factor for metabolic syndrome compare GA+GG, risk of obesity, and hypercholesterolemia with p < 0.05. CONCLUSION: It can be concluded that PLIN variation has a role in the incidence of metabolic syndrome, especially in relation to obesity and hypercholesterolemia. Further study is needed to determine the role of other gene variations as a risk factor for metabolic syndrome. Edited by: Slavica Hristomanova-Mitkovska Citation: Hastuti P, Mus R, Puspasari A, Maharani C, Setyawati I. Perilipin genetic variation correlated with obesity and lipid profle in metabolic syndrome. Open Access Maced J Med Sci. 2022 Apr 04; 10(A):782-786. https://doi.org/10.3889/oamjms.2022. 9185 Keywords: Perilipin; Genetic variation; Metabolic syndrome; Obesity; Fat gene *Correspondence: Pramudji Hastuti, Department of Biochemistry, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta 55281, Indonesia. E-mail: pramudji.has@ugm.ac.id Received:03-Mar-2022 Revised: 20-Mar-2022 Accepted: 25-Mar-2022 Copyright: © 2022 Pramudji Hastuti, Rosdiana Mus, Anggelia Puspasari, Citra Maharani, Ika Setyawati Funding: This research was funded by directorate general of universities through the basic research of universities (no. 2760/UN1.DITLIT/DIT-LIT/PT/2020) Competing Interests: The authors have declared that no competing interests exist Open Access: This is an open-access article distributed under the terms of the Creative Commons Attribution- NonCommercial 4.0 International License (CC BY-NC 4.0) Introduction Metabolic syndrome is a metabolic disorder that increases the risk of cardiovascular diseases, diabetes, and certain cancers. Components of metabolic syndrome are hypertriglyceridemia, low high-density lipoprotein-cholesterol (HDL-C) level, hypertension, abdominal obesity, and insulin resistance. The pathogenesis of this disease is a complex interaction of risk factors and high adipocyte fat levels seem to play an important role in triggering metabolic syndrome through the interaction of genetic variants involved in dyslipidemia, hypertension, and insulin resistance [1]. Genetic factors play an important role in regulation of obesity because there are specifc genes involved in the control of energy expenditure, appetite, lipid metabolism, adipogenesis, thermogenesis, and diferentiation of cells [2]. Excess consumption of energy such as fats can become deposited as triglycerides and stored in lipid droplets in adipocyte tissues. Lipid droplets are surrounded by a single layer of phospholipids and proteins. Perilipin is one of the phosphorylated proteins surrounding lipid droplets and is only found in adipocyte cells [3]. Perilipin plays a major role in synthesizing and maintaining fat deposits in adipocytes [4]. In humans, the perilipin gene (PLIN) is located on chromosome 15q 26.1 [5]. Perilipin is a target of protein kinase A, and non-phosphorylated perilipin can inhibit hormone-sensitive lipase (HSL) which afects the lipolysis of the triglycerides in lipid droplets [6]. Accordingly, PLIN maintains the homeostasis of lipogenesis and lipolysis in the adipose tissues. The existence of PLIN variations may infuence the excess of lipid storage in the adipose tissues as obesity and change the balance of lipid metabolism. Some studies found correlations between the expression of the PLIN gene and obesity but the results were inconclusive [7]. Mice with null perilipin showed increased lipolysis and decreased adipocyte fat deposits. They remained skinny even when fed with a high-fat diet [4], [8] but they developed insulin resistance [9], [10]. Therefore, in addition to its role in energy homeostasis, PLIN has a role in maintaining adipocyte lipolysis which is essential for metabolic homeostasis [11]. One study comparing perilipin levels in obese patients with metabolic syndrome found perilipin levels were higher in the obese subjects