Polymorphism in the 3' UTR of the IL12B gene is associated with Chagas' disease cardiomyopathy

Microbes Infect. 2007 Jul;9(9):1049-52. doi: 10.1016/j.micinf.2007.04.010. Epub 2007 May 3.

Abstract

The aim of this study was to investigate the possible influence of a 3' untranslated region (3' UTR) polymorphism of the IL12B gene in susceptibility to Trypanosoma cruzi infection or in the development to cardiomyopathy in Chagas' disease (CD). We determined the IL12B 3' UTR genotypes in a sample of 200 seronegative individuals and 260 serologically positive patients (130 with Chagasic cardiomyopathy and 130 asymptomatic). All individuals are from a Colombian region where T. cruzi infection is endemic. Genotyping was performed by the PCR-restriction fragment length polymorphism (RFLP) method. The overall distribution of the IL12B 3' UTR alleles and genotypes in seronegative compared with seropositive individuals was not statistically significant. Interestingly, we found that the IL12B 3' UTR CC genotype was significantly increased among cardiomyopathic patients when compared to asymptomatic individuals (16% versus 5%; P=0.005; P(c)=0.015; OR=3.39; 95% CI 1.3-9.15). In addition, we observed that the IL12B 3' UTR C allele was present at significantly higher frequency in cardiomyopathic (33% versus 22%; P=0.008; P(c)=0.016; OR=1.69; 95% CI 1.12-2.55) as compared to asymptomatic. Our results suggest that IL12B 3' UTR gene polymorphisms may influence the susceptibility to develop Chagasic cardiomyopathy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions / genetics*
  • Adult
  • Animals
  • Chagas Cardiomyopathy / genetics*
  • Chagas Cardiomyopathy / parasitology
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Interleukin-12 Subunit p40 / genetics*
  • Interleukin-12 Subunit p40 / immunology
  • Male
  • Middle Aged
  • Polymorphism, Genetic
  • Trypanosoma cruzi / isolation & purification

Substances

  • 3' Untranslated Regions
  • IL12B protein, human
  • Interleukin-12 Subunit p40