A variant in the promoter of MBL2 is associated with protection against visceral leishmaniasis in Morocco

Salsabil Hamdi, Rajaa Ejghal, Mouna Idrissi, Sayeh Ezzikouri, Mohammed Hida, Lynn Soong, Hamid Amarouch, Meryem Lemrani

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Progressive visceral leishmaniasis (VL) is fatal if not treated; yet, most infections with the causative agents are asymptomatic. We hypothesized that genetic factors contribute to this variable response to infection. The mannose-binding lectin 2 gene (MBL2) is a candidate that merits examination in the context of VL because it enhances infection with intracellular pathogens. Four functional MBL2 polymorphisms at codons 52, 54, 57 and in the promoter at the -221 position (X/Y) are known to be associated with the outcome of several diseases. The aim of the present study was to investigate whether these functional variants were associated with VL in Moroccan children.Here, we genotyped polymorphisms by sequencing and PCR-RFLP in 112 individuals with VL, 97 asymptomatic subjects and 42 healthy individuals who had no evidence of present or past infection.Regression analysis showed no significant association between polymorphisms in exon 1 genotypes and outcome of infection with Leishmania infantum. However, the genotype XY in -221 conferred a protective role against VL in our study population with a significant difference (OR = 0.291; CI [0.158-0.538]; p= 0.0006). Subjects with YY genotypes in -221 had a higher risk to developing VL.We concluded that MBL2 polymorphism at the -221 promoter region plays a protective role in L. infantum infection.

Original languageEnglish (US)
Pages (from-to)162-167
Number of pages6
JournalInfection, Genetics and Evolution
Volume13
Issue number1
DOIs
StatePublished - Jan 2013
Externally publishedYes

Fingerprint

leishmaniasis
Mannose-Binding Lectin
Morocco
visceral leishmaniasis
Visceral Leishmaniasis
mannose
lectins
promoter regions
gene
polymorphism
Infection
genetic polymorphism
infection
Leishmania infantum
Genes
genotype
genes
Genotype
Genetic Promoter Regions
codons

Keywords

  • MBL2 variants
  • North Morocco
  • Susceptibility
  • Visceral leishmaniasis

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Genetics
  • Molecular Biology
  • Microbiology
  • Infectious Diseases
  • Microbiology (medical)

Cite this

A variant in the promoter of MBL2 is associated with protection against visceral leishmaniasis in Morocco. / Hamdi, Salsabil; Ejghal, Rajaa; Idrissi, Mouna; Ezzikouri, Sayeh; Hida, Mohammed; Soong, Lynn; Amarouch, Hamid; Lemrani, Meryem.

In: Infection, Genetics and Evolution, Vol. 13, No. 1, 01.2013, p. 162-167.

Research output: Contribution to journalArticle

Hamdi, Salsabil ; Ejghal, Rajaa ; Idrissi, Mouna ; Ezzikouri, Sayeh ; Hida, Mohammed ; Soong, Lynn ; Amarouch, Hamid ; Lemrani, Meryem. / A variant in the promoter of MBL2 is associated with protection against visceral leishmaniasis in Morocco. In: Infection, Genetics and Evolution. 2013 ; Vol. 13, No. 1. pp. 162-167.
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AB - Progressive visceral leishmaniasis (VL) is fatal if not treated; yet, most infections with the causative agents are asymptomatic. We hypothesized that genetic factors contribute to this variable response to infection. The mannose-binding lectin 2 gene (MBL2) is a candidate that merits examination in the context of VL because it enhances infection with intracellular pathogens. Four functional MBL2 polymorphisms at codons 52, 54, 57 and in the promoter at the -221 position (X/Y) are known to be associated with the outcome of several diseases. The aim of the present study was to investigate whether these functional variants were associated with VL in Moroccan children.Here, we genotyped polymorphisms by sequencing and PCR-RFLP in 112 individuals with VL, 97 asymptomatic subjects and 42 healthy individuals who had no evidence of present or past infection.Regression analysis showed no significant association between polymorphisms in exon 1 genotypes and outcome of infection with Leishmania infantum. However, the genotype XY in -221 conferred a protective role against VL in our study population with a significant difference (OR = 0.291; CI [0.158-0.538]; p= 0.0006). Subjects with YY genotypes in -221 had a higher risk to developing VL.We concluded that MBL2 polymorphism at the -221 promoter region plays a protective role in L. infantum infection.

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