Jan 2nd, 2024

The field of cardiology encompasses various areas of research, including the study of aortic diseases and genetic factors influencing coronary artery disease. In a retrospective study examining the relationship between aortic calcification and aortic diseases, 317 patients with pseudoaneurysm or penetrating aortic ulcer were evaluated. The control group comprised healthy individuals. The study found that patients with older atherosclerotic and infective diseases exhibited higher calcification scores, highlighting distinct calcification patterns in different aortic diseases (1).

Another area of exploration is the role of genetic polymorphism in coronary artery disease (CAD). A primary study focusing on the LDL-receptor gene polymorphism in CAD was conducted in Egypt. This study involved 100 CAD patients and an equal number of healthy controls. The intervention was the genotyping of rs1122608 single nucleotide polymorphisms (SNPs). The research revealed that a higher proportion of the 'T' allele and 'T/T' genotype was present in CAD patients. Notably, individuals with the 'T/T' genotype were found to be at 4.5 times higher risk of developing CAD. However, no significant association was observed between the Gensini score and rs1122608 genotypes. The study concluded that the mutant GT and TT genotypes and the minor T allele of rs1122608 are correlated with CAD and are independent risk factors for the disease (2).

Lastly, a genetic association study was conducted to examine the association of genetic variants with acute myocardial infarction (AMI) in the Pakistani population. The study did not specify the number of patients involved or provide details about the control group. The genetic variants under investigation were rs2910164, rs4636297, and rs895819. Results indicated a significant association of rs2910164 and rs4636297 with AMI, while rs895819 did not show a significant association. This study is significant as it identifies genetic risk factors for AMI in the Pakistani population (3).

1. Li S, Kan H, Liu Z, Zeng R, Shao J, Chen Y, et al. Aortic calcification correlates with pseudoaneurysm or penetrating aortic ulcer of different etiologies. Sci Rep. 2024;14(1):25.

2. El-Sayed K, Youssef AR, Hay NMA, Osman AM. LDL-receptor gene polymorphism as a predictor of coronary artery disease: an Egyptian pilot study: relation to lipid profile and angiographic findings. Egypt Heart J. 2024;76(1):1.

3. Ali S, Haq TU, Hussain M, Uzair M, Ali Y, Chen Y, et al. Genetic variants rs2910164, rs4636297 and rs895819 may contribute to the onset of acute myocardial infarction in Pakistani population. PLoS One. 2024;19(1):e0296025.