Association of rs1333040 SNPs with susceptibility, risk factors, and clinical characteristics of acute myocardial infarction patients in a Chinese Han population

Int J Clin Exp Pathol. 2018 Feb 1;11(2):727-738. eCollection 2018.

Abstract

This study aimed to examine the association of rs1333040 SNPs and several risk and environmental factors with acute myocardial infarction (AMI). The association of rs1333040 single nucleotide polymorphisms (SNPs) within the cyclin-dependent kinase inhibitor 2B antisense RNA1 (CDKN2B-AS1) gene with AMI has been confirmed in some European populations. However, at the time this study was initiated, no rs1333040 SNPs had been associated with AMI in Chinese individuals. Genotypes of rs1333040 were determined in 334 AMI patients and 334 healthy controls from a Chinese Han population by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP), and then confirmed by direct sequencing. The TT genotype of rs1333040 was positively correlated with AMI risk (P < 0.001). The frequency of the C allele of rs1333040 in patients with diagnosis time (DT) > 12 h was lower than that in patients with shorter DT (P < 0.05), with no differences in typical symptoms, serious complications, and infarction location (P > 0.05 for each). There were interactions between the rs1333040 SNP genotype (TT, TC, or CC), and patients who smoked ≥ 20 cigarettes/day (P < 0.017). The rs1333040 TT genotype was positively correlated with the risk of AMI. For the first time, we discovered that the C allele of rs1333040 was significantly correlated with DT ≤ 12 h of AMI. Also, the interaction between the minor C allele of rs1333040 and smoking appears to increase the risk of AMI.

Keywords: Acute myocardial infarction (AMI); gene-environment interaction; risk factor; single nucleotide polymorphism (SNPs); susceptibility.