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

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

doi:10.3389/fmed.2023.1340703

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

Front Med (Lausanne). 2024 Feb 9:10:1340703. doi: 10.3389/fmed.2023.1340703. eCollection 2023.

Authors

Mohammed Y Behairy¹, Noha Z Tawfik², Refaat A Eid³, Dalal Nasser Binjawhar⁴, Dalal Sulaiman Alshaya⁵, Eman Fayad⁶, Walid F Elkhatib^{7

8}, Hoda Y Abdallah^{9

10}

Affiliations

¹ Department of Microbiology and Immunology, Faculty of Pharmacy, University of Sadat City, Sadat City, Egypt.
² Department of Dermatology, Venereology and Andrology, Faculty of Medicine, Suez Canal University, Ismailia, Egypt.
³ Pathology Department, College of Medicine, King Khalid University, Abha, Saudi Arabia.
⁴ Department of Chemistry, College of Science, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia.
⁵ Department of Biology, College of Science, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia.
⁶ Department of Biotechnology, College of Sciences, Taif University, Taif, Saudi Arabia.
⁷ Microbiology and Immunology Department, Faculty of Pharmacy, Ain Shams University, African Union Organization St., Abbassia, Cairo, Egypt.
⁸ Department of Microbiology and Immunology, Faculty of Pharmacy, Galala University, Suez, Egypt.
⁹ Department of Histology and Cell Biology (Genetics Unit), Faculty of Medicine, Suez Canal University, Ismailia, Egypt.
¹⁰ Center of Excellence in Molecular and Cellular Medicine, Faculty of Medicine, Suez Canal University, Ismailia, Egypt.

Abstract

Introduction: 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. Therefore, in this study, we investigated the role of the MBL variant, rs1800450, in psoriasis and vitiligo disease susceptibility.

Methods: The study comprised performing in silico analysis, performing an observational study regarding psoriasis patients, and performing an observational study regarding vitiligo patients. Various 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 disease susceptibility and various clinicopathological data were analyzed.

Results: Computational analysis demonstrated the anticipated effects of the mutation on 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 1,000 Genomes Project. This SNP showed no significant association with either psoriasis or vitiligo disease risk in all genetic association models. Furthermore, rs1800450 SNP did not significantly correlate with any of the demographic or clinicopathological features of both psoriasis and vitiligo.

Discussion: Our findings highlighted that the rs1800450 SNP on the MBL2 gene has no role in the disease susceptibility to autoimmune skin diseases, such 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.

Keywords: MBL; SNP; innate immunity; psoriasis; rs1800450; vitiligo.

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. The authors extend their appreciation to the Deanship of Scientific Research at King Khalid University for funding this research through large group research project under grant number RGP2/17/44. This research was also supported by Princess Nourah bint Abdulrahman University Researchers Supporting Project number (PNURSP2024R155), Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia.