Analysis of the RS10750097 and RS3741298 polymorphisms of the APOA5 genes in relation to dyslipidemia
DOI:
https://doi.org/10.21527/2176-7114.2025.50.15567Keywords:
Dyslipidemia, APOA5, ZNF, polymorphism, military, genesAbstract
Dyslipidemia is characterized by a disorder in lipid metabolism and arises from external causes or predisposing genetic disorders. This observational, cross-sectional study aimed to analyze the correlation between the genetic polymorphisms RS10750097 and RS3741298 associated with the lipoprotein ApoA5-ZNF259 and the development of dyslipidemia. A sample of 200 Military Police officers from the state of Goiás was used, and genotyping of the polymorphisms was performed. Regarding the participating individuals, 93% were male and 7% were female. The polymorphisms observed in the groups with and without dyslipidemia showed a significant difference between the two groups for all variables analyzed (p<0.05) The present study found that the RS10750097 and RS3741298 polymorphisms did not increase the odds ratio of the dyslipidemia group actually having dyslipidemia (OR and 95% CI <1), which corroborates with previously described studies in different populations. Therefore, the RS10750097 and RS3741298 polymorphisms did not influence the development of dyslipidemia within the variables involved in this study and in this population, despite being part of the SNP spectrum of the APOA5 ZNF 259 region. Thus, the influence of each population's epigenetics on the results is observed, and the need for similar research in other target groups is highlighted.
References
1 The T-allele of the SMARCA4 gene has an apparent protective effect against high levels of total and LDL cholesterol. Genet Mol Res [Internet]. 2020;19(1). Available from: http://www.funpecrp.com.br/gmr/articles/year2020/vol19-1/pdf/gmr18479_-_t-allele-smarca4-gene-has-apparent-protective-effect-against-high-levels-total-and-ldl.pdf
2 Silva R dos RF, Nascimento TL de, Silva AMTC, Costa SHN, Castro FS, Silva MAC, et al. APOA5 gene polymorphism assessment and association with hypertriglyceridemia in the military force of the State of Goiás. Res Soc Dev [Internet]. 2021 Jun 14;10(7): e8410716229. Available from: https://rsdjournal.org/index.php/rsd/article/view/16229
3 Xavier HT, Izar MC, Faria Neto JR, Assad MH, Rocha VZ, Sposito AC, et al. [V Brazilian Guidelines on Dyslipidemias and Prevention of Atherosclerosis]. Arq Bras Cardiol [Internet]. 2013;101(4 Suppl 1):1–20. Available from: http://www.ncbi.nlm.nih.gov/pubmed/24217493
4 Liu Y, Zhou D, Zhang Z, Song Y, Zhang D, Zhao T, et al. Effects of genetic variants on lipid parameters and dyslipidemia in a Chinese population. J Lipid Res [Internet]. 2011 Feb;52(2):354–60. Available from: http://www.ncbi.nlm.nih.gov/pubmed/21149302
5 Diabetes Canada Clinical Practice Guidelines Expert Committee, Mancini GBJ, Hegele RA, Leiter LA. Dyslipidemia. Can J diabetes [Internet]. 2018 Apr;42 Suppl 1: S178–85. Available from: http://www.ncbi.nlm.nih.gov/pubmed/29650093
6 Lazzaretti R.K. Marcadores genéticos associados a dislipidemia e redistribuição de gordura corporal em indivíduos infectados pelo HIV em Terapia Antirretroviral. 2012. Available from: http://hdl.handle.net/10183/76190
7 Karásek D. Biologic therapy for dyslipidemia. Vnitr Lek [Internet]. 2021;67(4):206–11. Available from: http://www.ncbi.nlm.nih.gov/pubmed/34275305
8 Chen YQ, Pottanat TG, Zhen EY, Siegel RW, Ehsani M, Qian Y-W, et al. ApoA5 lowers triglyceride levels via suppression of ANGPTL3/8-mediated LPL inhibition. J Lipid Res [Internet]. 2021;62:100068. Available from: http://www.ncbi.nlm.nih.gov/pubmed/33762177
9 Brautbar A, Covarrubias D, Belmont J, Lara-Garduno F, Virani SS, Jones PH, et al. Variants in the APOA5 gene region and the response to combination therapy with statins and fenofibric acid in a randomized clinical trial of individuals with mixed dyslipidemia. Atherosclerosis [Internet]. 2011 Dec;219(2):737–42. Available from: http://www.ncbi.nlm.nih.gov/pubmed/21889769
10 Fu Q, Tang X, Chen J, Su L, Zhang M, Wang L, et al. Effects of Polymorphisms in APOA4-APOA5-ZNF259-BUD13 Gene Cluster on Plasma Levels of Triglycerides and Risk of Coronary Heart Disease in a Chinese Han Population. PLoS One [Internet]. 2015;10(9):e0138652. Available from: http://www.ncbi.nlm.nih.gov/pubmed/26397108
11 Xu X, Li Y, Huang Y, Ye H, Han L, Ji H, et al. Impact of gender and age on the association of the BUD13-ZNF259 rs964184 polymorphism with coronary heart disease. Anatol J Cardiol [Internet]. 2018 Jan;19(1):42–9. Available from: http://www.ncbi.nlm.nih.gov/pubmed/29339699
12 Perez-Martinez P, Corella D, Shen J, Arnett DK, Yiannakouris N, Tai ES, et al. Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fasting, postprandial, and fenofibrate-treated states. Am J Clin Nutr [Internet]. 2009 Jan;89(1):391–9. Available from: http://www.ncbi.nlm.nih.gov/pubmed/19056598
13 Chen X, Leng L, Yu H, Yang X, Dong G, Yue S, et al. Psychological distress and dyslipidemia in chinese police officers: a 4-year follow-up study in Tianjin, China. J Occup Environ Med [Internet]. 2015 Apr;57(4):400–5. Available from: http://www.ncbi.nlm.nih.gov/pubmed/25629802
14 Packard CJ, Boren J, Taskinen M-R. Causes and Consequences of Hypertriglyceridemia. Front Endocrinol (Lausanne) [Internet]. 2020;11:252. Available from: http://www.ncbi.nlm.nih.gov/pubmed/32477261
15 Mach F, Baigent C, Catapano AL, Koskinas KC, Casula M, Badimon L, et al. 2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk. Eur Heart J [Internet]. 2020 Jan 1;41(1):111–88. Available from: https://academic.oup.com/eurheartj/article/41/1/111/5556353
16 Shi Y, Guo L, Chen Y, Xie Q, Yan Z, Liu Y, et al. Risk factors for ischemic stroke: differences between cerebral small vessel and large artery atherosclerosis aetiologies. Folia Neuropathol [Internet]. 2021;59(4):378–85. Available from: http://www.ncbi.nlm.nih.gov/pubmed/35114778
17 Ramón-Arbués E, Martínez-Abadía B, Gracia-Tabuenca T, Yuste-Gran C, Pellicer-García B, Juárez-Vela R, et al. [Prevalence of overweight/obesity and its association with diabetes, hypertension, dyslipidemia and metabolic syndrome: a cross-sectional study of a sample of workers in Aragón, Spain]. Nutr Hosp [Internet]. 2019 Mar 7;36(1):51–9. Available from: http://www.ncbi.nlm.nih.gov/pubmed/30834762
18 Forte TM, Ryan RO. Apolipoprotein A5: Extracellular and Intracellular Roles in Triglyceride Metabolism. Curr Drug Targets [Internet]. 2015;16(12):1274–80. Available from: http://www.ncbi.nlm.nih.gov/pubmed/26028042
19 Do R, Stitziel NO, Won H-H, Jørgensen AB, Duga S, Angelica Merlini P, et al. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature [Internet]. 2015 Feb 5;518(7537):102–6. Available from: http://www.ncbi.nlm.nih.gov/pubmed/25487149
20 Xu C, Bai R, Zhang D, Li Z, Zhu H, Lai M, et al. Effects of APOA5 −1131T>C (rs662799) on Fasting Plasma Lipids and Risk of Metabolic Syndrome: Evidence from a Case-Control Study in China and a Meta-Analysis. Crawford DC, editor. PLoS One [Internet]. 2013 Feb 28;8(2):e56216. Available from: https://dx.plos.org/10.1371/journal.pone.0056216
21 Novotny D, Vaverkova H, Karasek D, Malina P. Genetic variants of apolipoprotein A5 T-1131C and apolipoprotein E common polymorphisms and their relationship to features of metabolic syndrome in adult dyslipidemic patients. Clin Biochem [Internet]. 2014 Aug;47(12):1015–21. Available from: http://www.ncbi.nlm.nih.gov/pubmed/24709297
22 Parra EJ, Mazurek A, Gignoux CR, Sockell A, Agostino M, Morris AP, et al. Admixture mapping in two Mexican samples identifies significant associations of locus ancestry with triglyceride levels in the BUD13/ZNF259/APOA5 region and fine mapping points to rs964184 as the main driver of the association signal. PLoS One [Internet]. 2017;12(2):e0172880. Available from: http://www.ncbi.nlm.nih.gov/pubmed/28245265
23 Mirhafez SR, Avan A, Pasdar A, Khatamianfar S, Hosseinzadeh L, Ganjali S, et al. Zinc Finger 259 Gene Polymorphism rs964184 is Associated with Serum Triglyceride Levels and Metabolic Syndrome. Int J Mol Cell Med [Internet]. 2016;5(1):8–18. Available from: http://www.ncbi.nlm.nih.gov/pubmed/27386434
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2025 Revista Contexto & Saúde
This work is licensed under a Creative Commons Attribution 4.0 International License.
Autores que publicam na Revista Contexto & Saúde concordam com os seguintes termos:
a) A submissão de trabalho(s) científico(s) original(is) pelos autores, na qualidade de titulares do direito de autor do(s) texto(s) enviado(s) ao periódico, nos termos da Lei 9.610/98, implica na cessão de direitos autorais de publicação na Revista Contexto e Saúde do(s) artigo(s) aceitos para publicação à Universidade Regional do Noroeste do Estado do Rio Grande do Sul, autorizando-se, ainda, que o(s) trabalho(s) científico(s) aprovado(s) seja(m) divulgado(s) gratuitamente, sem qualquer tipo de ressarcimento a título de direitos autorais, por meio do site da revista e suas bases de dados de indexação e repositórios, para fins de leitura, impressão e/ou download do arquivo do texto, a partir da data de aceitação para fins de publicação. Isto significa que, ao procederem a submissão do(s) artigo(s) à Revista Contexto e Saúde e, por conseguinte, a cessão gratuita dos direitos autorais relacionados ao trabalho científico enviado, os autores têm plena ciência de que não serão remunerados pela publicação do(s) artigo(s) no periódico.
b). Autores mantém os direitos autorais e concedem à revista o direito de primeira publicação, com o trabalho simultaneamente licenciado sob a Licença Creative Commons Attribution que permite o compartilhamento do trabalho com reconhecimento da autoria e publicação inicial nesta revista.
c). Autores têm autorização para assumir contratos adicionais separadamente, para distribuição não-exclusiva da versão do trabalho publicada nesta revista (ex.: publicar em repositório institucional ou como capítulo de livro), com reconhecimento de autoria e publicação inicial nesta revista.
d). Autores têm permissão e são estimulados a publicar e distribuir seu trabalho online (ex.: em repositórios institucionais ou na sua página pessoal) a qualquer ponto antes ou durante o processo editorial, já que isso pode gerar alterações produtivas, bem como aumentar o impacto e a citação do trabalho publicado (Veja O Efeito do Acesso Livre).
