Analysis of genetic variants in the IL4 promoter and VNTR loci in Indian patients with Visceral Leishmaniasis

Hum Immunol. 2014 Dec;75(12):1177-81. doi: 10.1016/j.humimm.2014.10.007. Epub 2014 Oct 19.

Abstract

Visceral Leishmaniasis (VL) is the most severest form of Leishmaniasis and resistance to infection is mediated by cellular immune responses. Interleukin 4 (IL-4) orchestrates of Th2 and Th1 immune responses during infections. In this study, we aimed to investigate possible association between three functional IL-4 polymorphisms -590C/T (rs2243250), -34C/T (rs2070874) and 70bp VNTR (rs79071878 in intron3) with VL in an Indian cohort comprising of 197 VL patients and 193 healthy controls. The three investigated IL-4 polymorphisms were in strong linkage disequilibrium. The investigated IL-4 alleles, genotypes and the reconstructed haplotypes were not significantly distributed between the VL patients and healthy controls. Our study signifies no possible association of functional IL-4 polymorphisms with Indian VL and postulate other vital genes involved in the IL-4 pathway may provide genetic clues to elucidate of IL-4 regulation and immune-pathogenesis during VL.

Keywords: India; Interleukin 4; Leishmania donovani; VNTR; Visceral Leishmaniasis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Humans
  • Immunity, Cellular / genetics*
  • India
  • Interleukin-4 / genetics*
  • Leishmania / immunology
  • Leishmania / pathogenicity
  • Leishmaniasis, Visceral / genetics
  • Leishmaniasis, Visceral / immunology*
  • Linkage Disequilibrium / genetics
  • Male
  • Minisatellite Repeats / genetics*
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic / genetics*

Substances

  • IL4 protein, human
  • Interleukin-4