Single nucleotide polymorphism in the promoter of the human interleukin-13 gene is associated with asthma in Malaysian adults

Biomed Res Int. 2013:2013:981012. doi: 10.1155/2013/981012. Epub 2013 Jun 25.

Abstract

Asthma susceptibility genes are mapped to a region on human chromosome 5q31-q33, which contains a cluster of proinflammatory cytokine genes such as interleukin-13 (IL-13), which is associated with asthma. This study investigated the allele frequencies of two single nucleotide polymorphisms (SNPs) (-1111C>T and 4257C>A) in the IL-13 gene between asthmatics and healthy volunteers as well as the relationship between these SNPs and IL-13 production. DNA extracted from buffy coat of asthmatic and control subjects was genotyped using the PCR-RFLP method. Amount of IL-13 produced by mitogen-stimulated peripheral blood leucocytes PBLs (PBLs) was determined by ELISA. The frequencies of the -1111C and 4257G wild-type alleles were 0.52 and 0.55 in asthmatics and were 0.67 and 0.56 in controls. A significant (P < 0.05) association was found between genotype and allele frequencies of SNP at position -1111C>T between asthmatic and control groups (OR, 1.810; 95% CI = 1.184 to 2.767; P < 0.05). The mitogen-stimulated PBLs from asthmatics produced higher amounts of IL-13 production (P < 0.001). The 4257GA heterozygous and 4257AA homozygous mutant alleles were associated with higher IL-13 production in asthmatics (P < 0.05). Our results show that the -1111T mutant allele are associated with asthma and the 4257A mutant alleles are associated with elevated IL-13 production.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asthma / genetics*
  • Gene Frequency / genetics
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Humans
  • Interleukin-13 / biosynthesis
  • Interleukin-13 / genetics*
  • Leukocytes, Mononuclear / metabolism
  • Malaysia
  • Polymorphism, Restriction Fragment Length / genetics
  • Polymorphism, Single Nucleotide / genetics*
  • Promoter Regions, Genetic*

Substances

  • IL13 protein, human
  • Interleukin-13