Mannose-Binding Lectin Gene Variants as Disease Susceptibility Biomarkers in Rheumatoid Arthritis
Tarnjeet Kaur1, Shreya Singh Kashyap1, Sumeet Arora2
1Department of Human Genetics, Guru Nanak Dev University, Amritsar, India.
Genetic Testing and Molecular Biomarkers
|July 18, 2024
Summary
Genetic variants in the Mannose-binding lectin 2 (MBL2) gene are associated with rheumatoid arthritis (RA) susceptibility. This study identified specific MBL2 variants as potential biomarkers for RA risk in an Indian population.
Area of Science:
- Immunogenetics
- Rheumatology
- Human Genetics
Background:
- Rheumatoid arthritis (RA) is a chronic autoimmune disease affecting joints, influenced by immune dysregulation.
- Mannose-binding lectin (MBL), an acute-phase protein, plays a role in RA pathogenesis via complement pathway activation.
- MBL serum levels and activity are genetically determined by variants in the MBL2 gene.
Purpose of the Study:
- To investigate the association between six functional MBL2 gene variants and rheumatoid arthritis susceptibility.
- To evaluate MBL2 variants as potential biomarkers for RA in a northwestern Indian cohort.
Main Methods:
- Case-control association study design.
- Genetic typing of six MBL2 variants using amplification refractory mutation system-polymerase chain reaction (ARMS-PCR).
- Statistical analysis of genotypic and allelic distributions.
Main Results:
- Significant differences in genotypic and allelic distribution were observed for the rs11003125 variant between RA cases and controls.
- The A allele of the rs1800450 variant showed a significantly higher prevalence in RA cases compared to controls.
- These findings suggest a potential role for MBL2 variants in RA susceptibility.
Conclusions:
- MBL2 gene variants may serve as plausible markers for rheumatoid arthritis susceptibility.
- Further screening of these MBL2 variants in diverse Indian population groups is warranted.
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