Genotypes coding for low serum levels of mannose-binding lectin are underrepresented among individuals suffering from

Alex Smithson1, Rafael Perello, Jesus Aibar

  • 1Emergency Department, Fundació Hospital de l'Esperit Sant, c/Avinguda Mossen Pons i Rabadà s/n, 08923 Santa Coloma Gramenet, Spain. asa30412@hotmail.com

Insights

Gene polymorphisms affecting mannose-binding lectin (MBL) and MASP2 levels did not impact ICU patient mortality. However, high-MBL genotypes were linked to non-infectious SIRS and ICU admission.

Area of Science:

  • Immunogenetics
  • Critical Care Medicine
  • Molecular Biology

Background:

  • Gene polymorphisms in mannose-binding lectin (MBL) and MBL-associated protease 2 (MASP2) can lead to reduced serum levels.
  • Low MBL or MASP2 levels have been previously associated with an increased susceptibility to infections.

Purpose of the Study:

  • To investigate the association between MBL2 and MASP2 gene polymorphisms and outcomes in intensive care unit (ICU) patients with systemic inflammatory response syndrome (SIRS).
  • To determine if MBL2 or MASP2 polymorphisms influence mortality rates in ICU patients with SIRS.

Main Methods:

  • Genotyping of MBL2 and MASP2 single nucleotide polymorphisms (SNPs) using sequence-based typing.
  • Comparison of genotype frequencies between 243 ICU patients with SIRS and 104 healthy controls.
  • Analysis of the impact of MBL2 and MASP2 genotypes on patient mortality.

Main Results:

  • No significant differences in MBL2 (low-MBL genotypes O/O, XA/O) or MASP2 polymorphism frequencies were found between SIRS patients and healthy controls.
  • ICU patients with non-infectious SIRS showed a higher frequency of high-MBL genotypes (A/A, A/XA) compared to infectious SIRS patients and controls.
  • Neither low-MBL nor high-MBL genotypes, nor MASP2 polymorphisms, affected mortality rates in the studied ICU patients.

Conclusions:

  • The presence of high-MBL-producing genotypes is identified as a risk factor for developing SIRS and requiring ICU admission, particularly in non-infectious cases.
  • MBL2 and MASP2 gene polymorphisms do not appear to be direct predictors of mortality in ICU patients with SIRS.

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