To investigate the relationship between acute myocardial infarction (AMI) and single nucleotide polymorphism (SNP) of cathepsin B(CTSB) gene promoter region rs1293312T/C site and the associated risk factors.

A case-control study was performed to collect 201 AMI patients (AMI group) hospitalized in the Department of Cardiology, Affiliated Hospital of Jining Medical University from January 2021 to December 2021, and 204 healthy controls (control group) in the physical examination center. Following DNA sequencing data were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RELP) technique combined with sequence alignment. Following the Hardy-Weinberg balance test, the χ² test was used for correlation analysis. Logistic regression was utilized to examine the relationship between various risk variables, SNP loci and the incidence of AMI.

The SNP loci revealed three genotypes, including CC, CT and TT. Hardy-Weinberg equilibrium (χ²=0.57, 1.68, all P>0.05) and the genotype distribution were both supported by the data. There were no significant differences (χ²=0.15, 0.01, all P>0.05) between the CC, TC, TT genotypes of the AMI group [34(16.92%), 91(45.27%), 76(37.81%)] and the control group [37(18.14%), 89(43.63%), 78(38.23%)], as well as the C and T alleles of the AMI group [159(39.55%), 243(60.45%)] and control group [163(39.95%), 245(60.05%)]. Logistic regression analysis in five different genetic models suggested that the SNP loci was not associated with the onset of AMI (all P>0.05).

The population genetics of the CTSB gene promoter region polymorphism is provided by the CTSB gene promoter rs1293312 T/C SNP, which is not related to the onset of AMI.