A preliminary study of the association between the PCSK9 rs505151 polymorphism and dyslipidemia in patients with end-stage chronic kidney disease undergoing maintenance hemodialysis

Truong Thi Hong Ngoc, Phan Minh Hoang, Pham Thi Phuong Hang, Pham Van Hai, Nguyen Nhu Nghia

Main Article Content

Abstract

The PCSK9 gene plays an important role in lipid metabolism, but evidence regarding the association between the rs505151 polymorphism and dyslipidemia in patients with end-stage chronic kidney disease (ESCKD) remains limited. This descriptive cross-sectional study was conducted on 103 patients with ESCKD undergoing maintenance hemodialysis between May 2025 and December 2025 to characterize the genotype distribution of the PCSK9 rs505151 polymorphism and examine its association with serum lipid parameters. The AA genotype was predominant, accounting for 92.2% of the study population, whereas the heterozygous AG genotype accounted for 7.8%, with a G allele frequency of 3.9%. No GG genotype was identified. The overall prevalence of dyslipidemia was 95.1% and reduced HDL-C was the most common abnormality at 74.5%. Patients carrying the AG genotype had higher levels of TC, LDL-C, and non-HDL-C compared with those with the AA genotype (p < 0.05). In multivariable linear regression analysis, the G allele of the PCSK9 rs505151 polymorphism suggested an independent association with several lipid components in patients with ESCKD undergoing maintenance hemodialysis. These findings should be confirmed in studies with larger sample sizes and longitudinal designs.

Article Details

References

1. Thompson S, James M, Wiebe N, et al. Cause of Death in Patients with Reduced Kidney Function. Journal of the American Society of Nephrology : JASN. 2015;26(10):2504-11. doi:10.1681/asn.2014070714
2. Mikolasevic I, Žutelija M, Mavrinac V, et al. Dyslipidemia in patients with chronic kidney disease: etiology and management. International journal of nephrology and renovascular disease. 2017;10:35-45. doi:10.2147/ijnrd.S101808
3. Nguyễn Văn Tuấn. Nghiên cứu các yếu tố liên quan đến rối loạn lipid máu ở bệnh nhân bệnh thận mạn giai đoạn cuối chạy thận nhân tạo chu kỳ. Tạp chí Y học Việt Nam. 2021;498(2):210-214. doi:doi.org/10.51298/vmj.v498i2.211
4. Chang TI, Streja E, Ko GJ, et al. Inverse Association Between Serum Non-High-Density Lipoprotein Cholesterol Levels and Mortality in Patients Undergoing Incident Hemodialysis. Journal of the American Heart Association. 2018;7(12)doi:10.1161/jaha.118.009096
5. Kidney Disease: Improving Global Outcomes (KDIGO) CKD Work Group. KDIGO 2024 Clinical Practice Guideline for the Evaluation and Management of Chronic Kidney Disease. Kidney Int. 2024;105(4s):S117-s314. doi:10.1016/j.kint.2023.10.018
6. 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
7. Qiu C, Zeng P, Li X, et al. What is the impact of PCSK9 rs505151 and rs11591147 polymorphisms on serum lipids level and cardiovascular risk: a meta-analysis. Lipids in health and disease. 2017;16(1):111. doi:10.1186/s12944-017-0506-6
8. Ábel T, Benczúr B, Csajbókné É C. Determinants of circulating PCSK9 levels and the efficacy of PCSK9 inhibitor therapies in chronic kidney disease: a systematic review. European journal of clinical pharmacology. 2026;82(2):37. doi:10.1007/s00228-025-03965-w
9. Lin Z, Wang SH, Wei DY, et al. PCSK9 E670G polymorphism increases risk of coronary artery disease in a Chinese Han population. The Journal of international medical research. 2024;52(10):300060519892177. doi:10.1177/0300060519892177
10. Rojas C, Ramírez H, Salazar LA, et al. Characterization of LDLR rs5925 and PCSK9 rs505151 genetic variants frequencies in healthy subjects from northern Chile: Influence on plasma lipid levels. Journal of clinical laboratory analysis. 2019;33(9):e23001. doi:10.1002/jcla.23001
11. Aung LH, Yin RX, Miao L, et al. The proprotein convertase subtilisin/kexin type 9 gene E670G polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Lipids in health and disease. 2011;10:5. doi:10.1186/1476-511x-10-5
12. 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). Jama. 2001;285(19):2486-97. doi:10.1001/jama.285.19.2486
13. 1Mach F, Koskinas KC, Roeters van Lennep JE, et al. 2025 Focused Update of the 2019 ESC/EAS Guidelines for the management of dyslipidaemias. European heart journal. 2025;46(42):4359-4378. doi:10.1093/eurheartj/ehaf190
14. Evans D, Beil FU. The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women. BMC medical genetics. 2006;7:66. doi:10.1186/1471-2350-7-66
15. Lê Thị Thanh Tâm, Ngụy Thị Điệp, Ngô Trung Dũng, và cs. Rối loạn lipid máu và nguy cơ mắc bệnh động mạch vành ở bệnh nhân suy thận mạn giai đoạn cuối lọc máu chu kỳ tại Bệnh viện Thận Hà Nội theo thang điểm Framingham. Tạp chí Y học Việt Nam. 2024;538(1):363-367. doi:10.51298/vmj.v538i1.9394