Nutr Metab Cardiovasc Dis. 2026 Jul 22:104880. doi: 10.1016/j.numecd.2026.104880. Online ahead of print.
ABSTRACT
BACKGROUND AND AIMS: Atherosclerosis progressively leads to cardiovascular diseases (CVDs). Genetic variants in lipid and vascular related genes can impact cardiovascular health due to altered levels or functions of resulting proteins/enzymes. Therefore, we aimed to analyze the genetic variants in such genes in a cohort of Pakistani CVD patients.
METHODS AND RESULTS: In this case-control study, 100 CVD patients and 50 healthy controls were sampled and their biochemical parameters were analyzed. Furthermore, five SNPs including; PCSK9 rs562556(G/A), APOE rs429358(T/C), FURIN rs4702(G/A), and rs6224(G/T), and TIE2/TEK rs1322052(T/C) were genotyped using in-house developed tetra-primer ARMS-PCR assays. Data were analyzed in SPSS and R programing. Genetic analyses showed that AA genotype frequency (69% vs. 46%) for rs562556, TT (19% vs. 4%) of rs6224 and TT (72% vs. 52%) of rs429358 were significantly higher in CVD patients relative to healthy controls. Logistic regression analysis revealed significant associations for rs429358 (OR = 0.17, p = 0.014) with CVD, whereas, other polymorphisms including rs562556 (OR = 0.32, p = 0.27), rs4702 (OR = 4.04, p = 0.21), and rs6224 (OR = 0.94, p = 0.85) were not significant after adjusting for the confounding factors (i.e. age, gender, BMI and smoking). Moreover, diastolic blood pressure, uric acid and urea were significantly different between CVD patients having genotypes: TC and TT for rs429358. Similarly, albumin levels were significantly higher in TC genotype carriers for rs1322052 SNP in CVD patients (p = 0.0001).
CONCLUSION: Heterozygous genotype carriers of APOE rs429358 (TC) appeared to be protected from the development of CVD.
PMID:42928028 | DOI:10.1016/j.numecd.2026.104880