APOB rs693 polymorphism and its association with dyslipidemia
Main Article Content
Abstract
This study aimed to describe the distribution of the rs693 polymorphism in the APOB gene and to analyze its association with serum lipid components. A cross-sectional descriptive study with an analytical component was conducted in 128 patients with dyslipidemia at District 11 Hospital from June 2025 to January 2026. Participants were identified as having LDL-C > 3.4 mmol/L according to NCEP ATP III and were diagnosed with dyslipidemia based on the 2019 European Society of Cardiology guidelines. The rs693 genotype was determined using real-time polymerase chain reaction. The GG genotype was predominant at 88.3%, the GA genotype accounted for 11.7%, and no AA genotype was observed. The frequencies of the G and A alleles were 94.1% and 5.9%, respectively. Patients with the GA genotype had higher TC, LDL-C, and non-HDL-C levels than those with the GG genotype with adjusted mean differences of 1.10 mmol/L, 1.06 mmol/L, and 1.03 mmol/L, respectively. These findings suggest that rs693 may be associated with an atherogenic lipid profile in the study population.
Article Details
Keywords
rs693 polymorphism, APOB gene, dyslipidemia, association
References
2. Katsi V, Argyriou N, Fragoulis C, et al. The role of non-HDL cholesterol and apolipoprotein B in cardiovascular disease: a comprehensive review. Journal of cardiovascular development and disease. 2025;12(7)doi:10.3390/jcdd12070256
3. Kodogo V, Zhou DT, Oektedalen O, et al. Apolipoprotein B gene polymorphisms and dyslipidemia in HIV-infected adult Zimbabweans. Open AIDS Journal. 2016;10:190-198. doi:10.2174/1874613601610010190
4. Doan CTK, Le ATT, Truong CT, et al. Preliminary evidence for the association of APOB rs1042034 with short-term statin-induced lipid lowering: an exploratory study in Vietnam. Journal of cardiovascular pharmacology and therapeutics. 2026;31:10742484261428536. doi:10.1177/10742484261428536
5. Gallegos-Arreola MP, Valdez Y, Zúñiga-Corona M, et al. Association between the Xba I polymorphism of APOB gene and plasma lipid level in Mexican patients with coronary artery disease. Asia Pacific journal of clinical nutrition. 2012;21(2):312-8.
6. Mendoza-Torres E, Pereira Sanandrés NS, Villarreal Camacho JL, et al. Distribution of polymorphism rs693 of ApoB gene in a sample of Colombian Caribbeans. Colombia Médica. 2019;50(3):153-162. doi:10.25100/cm.v50i3.4048
7. Niu C, Luo Z, Yu L, et al. Associations of the APOB rs693 and rs17240441 polymorphisms with plasma APOB and lipid levels: a meta-analysis. Lipids in health and disease. 2017;16(1):166. doi:10.1186/s12944-017-0558-7
8. Sarkar A, Panati K, Narala VR. Code inside the codon: The role of synonymous mutations in regulating splicing machinery and its impact on disease. Mutation Research/Reviews in Mutation Research. 2022;790:108444. doi:10.1016/j.mrrev.2022.108444
9. Nguyen QT, Tran AV, Nguyen BT, et al. Lipid profile and apolipoprotein B serum levels in the Vietnamese population with newly diagnosed elevated low-density lipoprotein cholesterol and association with the single-nucleotide variant rs676210: cross-sectional study. JMIR cardio. 2025;9:e76850. doi:10.2196/76850
10. The National Cholesterol Education Program. Executive summary of the third report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III). Journal of the American Medical Association. 2001;285(19):2486-97. doi:10.1001/jama.285.19.2486
11. Mach F, Baigent C, Catapano AL, et al. 2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk: The Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and European Atherosclerosis Society (EAS). European Heart Journal. 2020;41(1):111-188. doi:10.1093/eurheartj/ehz455
12. Gálvez AS, Ramírez H, Placencia P, et al. Single nucleotide polymorphisms in apolipoprotein B, apolipoprotein E, and methylenetetrahydrofolate reductase are associated with serum lipid levels in northern Chilean subjects: a pilot study. Frontiers in genetics. 2021;12:640956. doi:10.3389/fgene.2021.640956
13. Wang YT, Li Y, Ma YT, et al. Association between apolipoprotein B genetic polymorphism and the risk of calcific aortic stenosis in Chinese subjects, in Xinjiang, China. Lipids in health and disease. 2018;17(1):40. doi:10.1186/s12944-018-0696-6
14. Alves ES, Henriques AD, Tonet-Furioso AC, et al. The APOB rs693 polymorphism impacts the lipid profile of Brazilian older adults. Brazilian Journal of Medical and Biological Research. 2020;53(3):e9102. doi:10.1590/1414-431x20199102
15. Karami F, Salahshourifar I, Houshmand M. The study of rs693 and rs515135 in APOB in people with familial hypercholesterolemia. Cell journal. 2019;21(1):86-91. doi:10.22074/cellj.2019.5692