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
Abstract:
Gene polymorphisms, giving rise to low serum levels of mannose-binding lectin (MBL) or MBL-associated protease 2 (MASP2), have been associated with an increased risk of infections. The objective of this study was to assess the outcome of intensive care unit (ICU) patients with systemic inflammatory response syndrome (SIRS) regarding the existence of functionally relevant MBL2 and MASP2 gene polymorphisms. The study included 243 ICU patients with SIRS admitted to our hospital, as well as 104 healthy control subjects. MBL2 and MASP2 single nucleotide polymorphisms were genotyped using a sequence-based typing technique. No differences were observed regarding the frequencies of low-MBL genotypes (O/O and XA/O) and MASP2 polymorphisms between patients with SIRS and healthy controls. Interestingly, ICU patients with a noninfectious SIRS had a lower frequency for low-MBL genotypes and a higher frequency for high-MBL genotypes (A/A and A/XA) than either ICU patients with an infectious SIRS or healthy controls. The existence of low- or /high-MBL genotypes or a MASP2 polymorphism had no impact on the mortality rates of the included patients. The presence of high-MBL-producing genotypes in patients with a noninfectious insult is a risk factor for SIRS and ICU admission.
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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