Influence of genetic polymorphisms on serum biomarkers of cardiac health

Abstract

Cardiovascular diseases (CVDs) are a leading cause of death worldwide which is why early risk prediction is crucial. Discrete Polygenic risk score (PRS) measurement using saliva or dried blood spot samples collected at home poses a convenient means for early CVD risk assessment. The present study assessed the effects of 28 disease-associated single nucleotide polymorphisms (SNPs) on 16 serological cardiac markers and also aggregated the risk alleles into a PRS to evaluate its applicability in CVD-risk prediction. The study assessed genetic and serological markers in 184 individuals. The association between serological markers and individual genetic variants was evaluated using a two-tailed t test while the associations of serum markers with the PRS was analyzed using the Pearson correlation. The comparative analysis of genotypes revealed statistically significant associations between serum markers and CVD-associated SNPs with Apo B: Apo A-1, LDL Direct, Apo B, sdLDL, hsCRP, Lp(a), NT-proBNP, and PLAC levels being significantly associated with the risk alleles of the SNPs, rs12526453, rs5186, rs10911021, rs1801131, rs670, rs10757274, and rs10757278. Increased PLAC levels were associated with rs10757274 and rs10757278 (P < .05). The SNPs, rs1801133, rs1549758, rs1799983, rs5082, and rs5186 were significantly associated with an increase in the cardioprotective markers, HDL and ApoA1 (P < .05). Furthermore, the PRS was associated with increasing levels of several serum cardiac markers (r2 > 0.6). Significant correlations were observed between high PRSs and NT-proBNP and ox-LDL levels with the r2 values being 0.82 (95% CI = 0.13–0.99; P = .03) and 0.94 (95% CI = 0.63–0.99; P = .005), respectively. The present study reports that SNPs have differential effects on serum markers with rs12526453, rs5186, rs10911021, rs1801131, rs670, rs10757274, and rs10757278 showing significant associations with elevated marker levels, which are indicators of deteriorating cardiac health. A unified PRS using several SNPs was also associated with an increase in serum markers levels, especially, NT-proBNP and ox-LDL. Genetic assessment via a convenient at-home collection to calculate the PRS can serve as an effective predictive tool for early CVD-risk assessment. This may help identify the risk groups that may require increased serological monitoring.

Association of Apolipoprotein E (APOE) Polymorphisms With Serological Lipid and Inflammatory Markers

“…The convenience related to the accessibility and feasibility of APOE testing via test kits might help individuals get familiarized with the test kits as early tools for disease risk assessment. This may prospectively lead to increased early CVD and AD risk screening which may enable early diagnosis and the implementation of personalized interventions, including targeted dietary and lifestyle modifications [ 36 ]. For APOE4 carriers, a rigorous intervention involving dietary, supplement, and lifestyle practices can be implemented to manage lipid abnormalities and inflammation [ 37 ].…”

Shaping the Future of Cardiac Wellness: Exploring Revolutionary Approaches in Disease Management and Prevention

“…By identifying individuals with these genetic variants, healthcare providers can initiate targeted screening and early intervention to reduce the risk of CVDs [60]. Risk stratification is a process of assessing an individual's risk of developing CVDs based on multiple risk factors, including age, sex, blood pressure, cholesterol levels, and family history [61]. Innovative risk stratification tools, such as the American College of Cardiology/American Heart Association (ACC/AHA) pooled cohort equations, can provide a more accurate assessment of an individual's risk of developing CVDs and guide treatment decisions [62].…”