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MBL2 gene variants and susceptibility to meningitis in Egyptian patients

Mona F Sokkar1, Rehab M Mosaad1, Mahmoud Khalil2

  • 1Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute (HGGR), National Research Centre (NRC), Cairo, Egypt.

Gene
|April 30, 2023
PubMed
Abstract

Insights

Genetic variants in the Mannose Binding Lectin 2 (MBL2) gene, specifically promoter (c.-290C>G) and UTR (c.-66C>T) variants, are associated with increased meningitis susceptibility in Egyptian patients. The MBL2 c.170G>A variant may offer protection against severe outcomes.

Area of Science:

  • Genetics
  • Immunology
  • Molecular Biology

Background:

  • Meningitis is a life-threatening inflammation of the membranes surrounding the brain and spinal cord.
  • Mannose binding lectin (MBL), encoded by the MBL2 gene, plays a crucial role in innate immunity by activating the complement system against infections.

Purpose of the Study:

  • To investigate the association between MBL2 gene promoter and exon 1 variants and meningitis susceptibility in Egyptian patients.
  • To explore the potential role of these MBL2 variants in disease susceptibility and clinical outcomes.

Main Methods:

  • A case-control study involving 53 meningitis patients and 50 age- and sex-matched healthy controls.
  • Genotyping of MBL2 gene variants was performed using Sanger sequencing.

Main Results:

  • The promoter variant (c.-290C>G) and the 5'UTR variant (c.-66C>T) of the MBL2 gene showed a significantly higher prevalence in meningitis patients compared to controls (p=0.0001 and p=0.033, respectively).
  • No significant difference was observed in the incidence of four individual exon 1 variants (c.161G>A, c.170G>A, c.154C>T, c.132C>T) between cases and controls.
  • The MBL2 c.170G>A variant (C allele) was associated with a favorable clinical outcome in meningitis patients (p=0.025).

Conclusions:

  • MBL2 promoter (c.-290C>G) and UTR (c.-66C>T) variants may represent potential risk factors for meningitis susceptibility in the Egyptian population.
  • The MBL2 c.170G>A variant (C allele and CC genotype) may play a protective role, potentially influencing disease severity.
  • Investigated MBL2 variants c.132C>T, c.161G>A, and c.154C>T were not associated with meningitis susceptibility or severity.
Keywords:
MBL2 genotypingMannose-binding lectinMeningitisSusceptibilityVariants

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