THE BRANCHED-CHAIN AMINO ACID TRANSAMINASE 1 -23C/G POLYMORPHISM CONFERS PROTECTION AGAINST ACUTE CORONARY SYNDROME

Rev Invest Clin. 2020;72(1):19-24. doi: 10.24875/RIC.19003133.

Abstract

Background: Previous studies have shown an association between polymorphisms of the BAT1-NF-κB inhibitor-like-1 (NFKBIL1)-LTA genomic region and susceptibility to myocardial infarction and acute coronary syndrome (ACS).

Objective: The objective of the study was to study the role of three polymorphisms in the BAT1, NFKBIL1, and LTA genes on the susceptibility or protection against ACS; we included a group of cases-controls from Central Mexico.

Methods: The BAT1 rs2239527C/G, NFKBIL1 rs2071592T/A, and LTA rs1800683G/A polymorphisms were genotyped using a 5' TaqMan assay in a group of 625 patients with ACS and 617 healthy controls.

Results: Under a recessive model, the BAT1 -23C/G (rs2239527) polymorphism showed an association with protection against ACS (odds ratio = 0.56, and p-corrected = 0.019). In contrast, the genotype and allele frequencies of the NFKBIL1 rs2071592T/A and LTA rs1800683G/A polymorphisms were similar between ACS patients and controls and no association was identified.

Conclusion: Our data suggest an association between the BAT1 -23C/G polymorphism and protection against ACS in Mexican patients.

Keywords: Acute coronary syndrome; BAT; Single-nucleotide polymorphism.

MeSH terms

  • Acute Coronary Syndrome / genetics*
  • Adaptor Proteins, Signal Transducing / genetics
  • Aged
  • Case-Control Studies
  • DEAD-box RNA Helicases / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Lymphotoxin-alpha / genetics
  • Male
  • Mexico
  • Middle Aged
  • Myocardial Infarction / genetics*
  • Polymorphism, Single Nucleotide

Substances

  • Adaptor Proteins, Signal Transducing
  • LTA protein, human
  • Lymphotoxin-alpha
  • NFKBIL1 protein, human
  • DDX39B protein, human
  • DEAD-box RNA Helicases