AUTHOR=Behairy Mohammed Y. , Tawfik Noha Z. , Eid Refaat A. , Nasser Binjawhar Dalal , Alshaya Dalal Sulaiman , Fayad Eman , Elkhatib Walid F. , Abdallah Hoda Y. 

TITLE=Mannose-binding lectin gene polymorphism in psoriasis and vitiligo: an observational study and computational analysis

JOURNAL=Frontiers in Medicine

VOLUME=Volume 10 - 2023

YEAR=2024

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2023.1340703

DOI=10.3389/fmed.2023.1340703

ISSN=2296-858X

ABSTRACT=Psoriasis and vitiligo are inflammatory autoimmune skin disorders with remarkable genetic involvement. Mannose binding lectin (MBL) represents a significant immune molecule with one of its gene variants strongly linked to autoimmune diseases. So, in this study, we investigated the role of MBL variant; rs1800450 in psoriasis and vitiligo disease susceptibility. The study comprised performing in silico analysis and performing an observational study regarding psoriasis patients and an observational study regarding vitiligo patients. Different in silico tools were used to investigate the  impact of the selected mutation on the function, stability, post translational modifications (PTMs) and secondary structures of the protein. In addition, a total of 489 subjects were enrolled in this study including their demographic and clinicopathological data. Genotyping analysis was performed using real-time PCR for the single nucleotide polymorphism (SNP) rs1800450 on codon 54 of the MBL gene, utilizing TaqMan Genotyping technology. In addition, implications of the studied variant on diseases susceptibility and on various clinicopathological data were analyzed. Computational analysis demonstrated the anticipated effects of the mutation om MBL protein. Furthermore, regarding the observational studies, rs1800450 SNP on codon 54 displayed comparable results in our population relative to global frequencies reported via the 1000 genome project. This SNP showed no significant association with either psoriasis or vitiligo disease risk in all genetic association models. Furthermore, rs1800450 SNP didn't significantly correlate with any of the demographic or the clinicopathological features of both psoriasis and vitiligo. Our findings highlighted that rs1800450 SNP on the MBL gene has no role in the disease susceptibility to autoimmune skin diseases as psoriasis and vitiligo among Egyptian patients. In addition, our analysis advocated the notion of the redundancy of MBL and revealed the lack of significant impact on both psoriasis and vitiligo disorders.