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Updated: May 17, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Does MBL2 codon 54 polymorphism play a role in the pathogenesis of psoriasis?
Hakan Turan1, Mutlu Karkucak, Tahsin Yakut
1Department of Dermatology, Düzce University Medical Faculty, Düzce, TurkeyDepartment of Medical Genetics, Uludag University Medical Faculty, Bursa, TurkeyDepartments of Physical Medicine and RehabilitationBiochemistryMedical Genetics, Düzce University Medical Faculty, Düzce, Turkey.
The MBL2 codon 54 polymorphism is associated with psoriasis in the Turkish population. This genetic variation may influence the immune response, potentially impacting psoriasis development.
Area of Science:
- Immunogenetics
- Dermatology
- Molecular Biology
Background:
- Psoriasis is a T cell-mediated immune disease.
- Tumor necrosis factor-α (TNF-α) plays a key role in psoriasis pathogenesis.
- Mannose-binding lectin (MBL) gene polymorphisms are linked to altered cytokine synthesis.
Purpose of the Study:
- To investigate the association between the MBL2 codon 54 polymorphism and psoriasis vulgaris.
- To evaluate the role of this specific MBL2 variant in the immune mechanisms underlying psoriasis.
Main Methods:
- Case-control study involving 50 psoriasis patients and 53 healthy controls.
- Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) used to determine MBL2 codon 54 genotypes.
- Statistical analysis with significance set at P < 0.05.
Main Results:
- A statistically significant difference in MBL2 genotype frequencies was observed between psoriasis patients and controls (P = 0.047).
- Allele frequency analysis also revealed a significant difference, with distinct prevalences of MBL2 alleles in patients versus controls (P = 0.031).
Conclusions:
- The MBL2 codon 54 polymorphism shows a potential association with psoriasis in the studied Turkish population.
- This finding suggests a possible role for MBL genetic variations in psoriasis susceptibility.
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