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Mannose-binding lectin gene polymorphisms in a cohort study of ANCA-associated small vessel vasculitis
L Kamesh1, J M Heward, J M Williams
1Division of Immunity and Infection, The Medical School, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.
Objective:
To investigate whether single nucleotide polymorphisms (SNPs) within the mannose-binding lectin (MBL) gene are associated with small vessel vasculitis (SVV) and are a risk factor for intercurrent infection, as described previously in other autoimmune diseases.
Methods:
Six SNPs in the MBL promoter and coding region were genotyped by sequence-specific polymerase chain reaction or restriction fragment length polymorphism assay in 170 white Caucasians with SVV and 372 ethnically matched controls in a case-control association study. Serum MBL levels were measured by ELISA. The genotype and protein concentrations were correlated to clinical details retrieved from hospital records.
Results:
No differences in allelic and genotypic frequencies were detected between patients with SVV and control subjects. MBL deficiency did not increase the susceptibility to infection (P = 0.6, Fisher's exact test) or the duration of hospital stay.
Conclusion:
Our data suggest that MBL polymorphisms are not associated with SVV and do not influence the incidence of concomitant infections. These results raise doubts about the usefulness of MBL polymorphisms as a predictive marker for infection in SVV.
Insights
Single nucleotide polymorphisms (SNPs) in the mannose-binding lectin (MBL) gene are not linked to small vessel vasculitis (SVV) or increased infection risk in this study. MBL gene variations do not appear to be a useful predictive marker for infections in SVV patients.
Area of Science:
- Immunogenetics
- Rheumatology
- Infectious Disease Epidemiology
Background:
- Mannose-binding lectin (MBL) plays a crucial role in innate immunity.
- MBL gene polymorphisms have been previously associated with other autoimmune diseases and infection susceptibility.
- Small vessel vasculitis (SVV) is a group of autoimmune conditions characterized by inflammation of small blood vessels.
Purpose of the Study:
- To determine if single nucleotide polymorphisms (SNPs) in the MBL gene are associated with susceptibility to small vessel vasculitis (SVV).
- To investigate whether MBL gene polymorphisms are a risk factor for intercurrent infections in SVV patients.
- To assess the correlation between MBL genotype, serum MBL levels, and clinical outcomes in SVV.
Main Methods:
- A case-control association study was conducted with 170 SVV patients and 372 healthy controls.
- Six SNPs in the MBL promoter and coding regions were genotyped using sequence-specific polymerase chain reaction or restriction fragment length polymorphism.
- Serum MBL levels were quantified using ELISA, and data were correlated with clinical information.
Main Results:
- No significant differences in allelic or genotypic frequencies of the studied MBL SNPs were observed between SVV patients and controls.
- MBL deficiency was not found to increase susceptibility to infections in SVV patients.
- There was no association between MBL polymorphisms and the duration of hospital stay.
Conclusions:
- The study suggests that MBL gene polymorphisms are not associated with the development of SVV.
- MBL polymorphisms do not appear to influence the incidence of infections in patients with SVV.
- These findings question the utility of MBL polymorphisms as a predictive marker for infection risk in SVV.
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