Proprotein convertase Subtilisin/Kexin type 9 (PCSK9) gene polymorphism in hypercholesterolemic Nepalese subjects

• Published in: IHJ Cardiovascular Reports Vol. 9; no. 2; pp. 23 - 27
• Main Authors: Marasini, Surendra, Lamsal, Madhab, Das, Binod Kumar Lal, Chaudhari, Rajendra Kumar, Baral, Nirmal, Jha, Punam, Bhattarai, Narayan Raj, Rai, Keshav, Karki, Prahlad
• Format: Journal Article
• Language: English
• Published: RELX India Private Limited 01.04.2025
• Subjects: Allele frequency; Cardiovascular diseases; Genotypes; Hypercholesterolemia; Allele frequency; Hypercholesterolemia; Cardiovascular diseases; Genotypes
• ISSN: 2950-4678; 2950-4678
• DOI: 10.1016/j.ihjcvr.2025.04.002

A potential gene called Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) has a gain of function mutation that causes autosomal dominant hypercholesterolemia. Diagnosing and treating genetic causes of a high cholesterol level can be challenging. Cardiovascular disorders are significantly associated with hypercholesterolemia. The study is aimed to determine the PCSK9 gene polymorphism in hypercholesterolemic Nepalese based on EarI cut site. Fifty hypercholesterolemic and fifty eucholesterolemic patients were selected for this hospital-based case-control research. Measurements were made of the biochemical parameters, anthropometry, and the comprehensive clinical history. To determine the number of potential genotypes in the Nepalese population, Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) were performed. In the case and control groups, the AA genotype frequencies were 0.28 and 0.36, respectively. The case group's and the control group's respective AG genotype frequencies were 0.72 and 0.64. There were no wild-type GG genotypes in the case and control populations. Patients with the AG genotype had considerably higher LDL cholesterol than those with the AA genotype which was statistically significant (p = 0.03). There was a greater proportion of heterozygous AG genotype in the case group compared to the control groups, whereas homozygous AA genotype was nearly equal in both case and control groups. Two types of genotypes respectively AA and AG were identified by PCSK9/EarI genotyping in both case and control participants. In hypercholesterolemic population, the AG genotype was found to be increase in LDL cholesterol. No will type GG genotype was found in both case and control groups.