Functional variations in MBL2 gene are associated with cutaneous leishmaniasis in the Amazonas state of Brazil

Genes Immun. 2015 Jun;16(4):284-8. doi: 10.1038/gene.2015.6. Epub 2015 Mar 12.

Abstract

Functional variations in the mannose-binding lectin (MBL2) gene causing low levels of serum MBL are associated with susceptibility to numerous infectious diseases. We investigated whether there is genetic association of MBL2 variant alleles with cutaneous leishmaniasis (CL) caused by Leishmania guyanensis. We used PCR-restriction fragment length polymorphism to genotype six MBL2 variants, three in the promoter region and three in the exon 1. An association was noted between the single nucleotide polymorphism -221X/Y of the MBL2 gene and CL (P=2.9 × 10(-6); odds ratio (OR)=1.9 (1.4-2.5) consistent with the hypothesis that the -221X allele confers high risk to development of CL among L. guyanensis-infected individuals. Furthermore, L. guyanensis-infected individuals bearing the codon 57 allele C had a higher risk of developing CL (P=5 × 10(-5); OR=1.9 (1.4-2.6)). The low MBL expressor haplotype LXPB was also associated to CL (P=6 × 10(-4)). This study raises the possibility that functional polymorphisms in MBL2 gene play a role in clinical outcome of Leishmania infection.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Brazil
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Haplotypes
  • Humans
  • Leishmania guyanensis / pathogenicity
  • Leishmaniasis, Cutaneous / genetics*
  • Leishmaniasis, Cutaneous / parasitology
  • Linkage Disequilibrium
  • Male
  • Mannose-Binding Lectin / genetics*
  • Middle Aged
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide*

Substances

  • MBL2 protein, human
  • Mannose-Binding Lectin