Mannose-binding lectin gene polymorphism in psoriasis and vitiligo: an observational study and computational analysis
Mohammed Y Behairy1, Noha Z Tawfik2, Refaat A Eid3
1Department of Microbiology and Immunology, Faculty of Pharmacy, University of Sadat City, Sadat City, Egypt.
Frontiers in Medicine
|February 26, 2024
Summary
The rs1800450 variant in the Mannose-binding lectin (MBL) gene does not influence susceptibility to autoimmune skin conditions like psoriasis and vitiligo. This study found no significant association between this MBL variant and disease risk or clinical features.
Area of Science:
- Immunogenetics
- Dermatology
- Molecular Biology
Background:
- Psoriasis and vitiligo are autoimmune skin disorders with a genetic basis.
- Mannose-binding lectin (MBL) is an immune molecule with gene variants linked to autoimmune diseases.
- The MBL gene variant rs1800450 is investigated for its potential role in these conditions.
Purpose of the Study:
- To investigate the association between the MBL gene variant rs1800450 and susceptibility to psoriasis and vitiligo.
- To analyze the impact of this variant on disease risk and clinicopathological features.
Main Methods:
- In silico analysis of the MBL variant's effect on protein function and stability.
- Observational studies involving 489 Egyptian patients with psoriasis or vitiligo.
- Real-time PCR genotyping for the rs1800450 single nucleotide polymorphism (SNP) in the MBL2 gene.
Main Results:
- In silico analysis predicted functional impacts of the mutation on MBL protein.
- The rs1800450 SNP frequency in the study population matched global data.
- No significant association was found between the rs1800450 SNP and psoriasis or vitiligo risk.
- The variant showed no correlation with demographic or clinicopathological characteristics of the diseases.
Conclusions:
- The rs1800450 SNP in the MBL2 gene is not implicated in the susceptibility to psoriasis and vitiligo in the Egyptian population.
- The study suggests MBL may be redundant in the context of these autoimmune skin disorders.
- Further research may explore other genetic factors contributing to psoriasis and vitiligo.
More Related Videos
11:10Antibody Binding Specificity for Kappa (Vκ) Light Chain-containing Human (IgM) Antibodies: Polysialic Acid (PSA) Attached to NCAM as a Case Study
Published on: June 29, 2016
14.1K
11:35Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
Published on: August 21, 2016
13.0K
Related Concept Videos
01:33Pleiotropy
40.4K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.4K
01:43Incomplete Dominance
22.6K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
22.6K
01:11Genome-wide Association Studies-GWAS
13.4K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.4K
01:05Proteoglycans
3.9K
Glycans, a class of complex heterogeneous molecules, can be covalently attached to proteins to form glycosylated proteins that regulate various physiological and pathological processes. Glycosylated proteins or glycoproteins comprise N-linked and O-linked oligosaccharides. O-glycosylation is the most common type of protein glycosylation. Here, glycans attach to the oxygen atom of the hydroxyl groups of Serine or Threonine residues. O-linked glycosylation occurs later in protein processing,...
3.9K
02:26Comparing Copy Number Variations and SNPs
17.7K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
01:05Single Nucleotide Polymorphisms-SNPs
15.1K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.1K