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GENETIC POLYMORPHISMS OF HUMAN β-DEFENSINS IN PATIENTS WITH MULTIPLE SCLEROSIS

Márta Szekeres, Ferenc Somogyvári, Krisztina Bencsik

    Ideggyogyaszati Szemle
    |October 6, 2015
    PubMed
    Abstract

    Insights

    Genetic variations in beta-defensin genes (DEFB1, DEFB4) and lower human beta-defensin 2 (hBD2) levels are linked to multiple sclerosis (MS) development, suggesting a role for these antimicrobial peptides in the disease.

    Area of Science:

    • Immunogenetics
    • Neuroimmunology
    • Microbiome Research

    Background:

    • Multiple sclerosis (MS) pathogenesis is increasingly linked to microbiome alterations.
    • Neuropathology in MS may involve dysregulated antimicrobial peptides (AMPs), such as defensins.
    • The role of specific genetic variations in defensin genes and their association with MS requires further investigation.

    Purpose of the Study:

    • To investigate the association between single nucleotide polymorphisms (SNPs) in the DEFB1 gene and copy number variations in the DEFB4 gene with MS.
    • To determine the levels of human beta-defensin 2 (hBD2) peptide in MS patients and healthy controls.

    Main Methods:

    • Genotyping of DEFB1 SNPs (c.-20G>A, c.-44C>G, c.-52G>A) and DEFB4 gene copy number in 250 MS patients and 232 controls.
    • Quantification of plasma hBD2 levels using ELISA in both patient and control groups.

    Main Results:

    • The protective GG genotype of DEFB1 c.-44C>G polymorphism was less frequent in MS patients.
    • MS patients exhibited a higher frequency of lower DEFB4 gene copy number (<4) compared to controls (43% vs. 28%).
    • Median circulating hBD2 levels were significantly lower in MS patients (150.6 pg/ml) than in controls (262.1 pg/ml, p<0.0001).

    Conclusions:

    • Genetic variations in DEFB1 and DEFB4, along with reduced hBD2 levels, are associated with multiple sclerosis.
    • These findings suggest that beta-defensins play a role in the pathogenesis of MS.
    • Further research into the immunomodulatory functions of defensins in MS is warranted.

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