Contribution of HLA class II genes, DRB4*01:01, DRB1*07:01, and DQB1*03:03:2 to clinical features of Vitiligo disease in Iranian population.

Abstract

BACKGROUND:

Vitiligo is a multifactorial depigmentation condition, which is due to skin melanocyte destruction. Increased expression of HLA class II genes in patients with pre-lesions of Vitiligo suggests a crucial role for the participation of immune response in Vitiligo development. Recent studies progressively focused on HLA-DRB1 and DQB1 genes. In this study, we have evaluated the association and role of HLA-DRB4*01:01, -DRB1*07:01, and -DQB1*03:03:2 genes in different clinical subtypes of Vitiligo in the Iranian population.

METHODS:

First, Genomic DNA from peripheral blood of 125 unrelated Vitiligo patients and 100 unrelated healthy controls were extracted through the salting-out method. Then, HLA class II genotyping was performed using the sequence-specific primer PCR method. Finally, the clinical relevance of the testing for these genotypes was evaluated by applying the PcPPV (prevalence-corrected positive predictive value) formula.

RESULTS:

Our results indicated the positive associations of DRB4*01:01 and DRB1*07:01 allelic genes with early-onset Vitiligo (p = 0.024 and 0.022, respectively). DRB4*01:01 also showed strong protection against late-onset Vitiligo (p = 0.0016, RR = 0.360). Moreover, our data revealed that the DRB1*07:01 increases the susceptibility to Sporadic Vitiligo (p = 0.030, RR = 1.702). Furthermore, our findings proposed that elevated vulnerability of Vitiligo patients due to DRB4*01:01 and DRB1*07:01 alleles maybe is correlated with the presence of amino acid Arginine at position 71 at pocket 4 on the antigen-binding site of the HLA-DRB1 receptor.

CONCLUSION:

Our findings on different subtypes of Vitiligo suggest that, despite a more apparent autoimmune involvement, a non-autoimmune nature for the etiology of Vitiligo should also be considered.

• Authors: Roya Ghaffarnia, Zahra Saffarian, Majid Shahbazi, Mahdi Zamani
• Journal: Molecular biology reports (Mol Biol Rep) Vol. 49 Issue 1 Pg. 171-178 (Jan 2022) ISSN: 1573-4978 [Electronic] Netherlands
• PMID: 34686989 (Publication Type: Journal Article)
• Copyright: © 2021. The Author(s), under exclusive licence to Springer Nature B.V.

Chemical References

• HLA-DQ beta-Chains
• HLA-DRB1 Chains
• HLA-DRB4 Chains

Topics

• Adult
• Case-Control Studies
• Female
• Genetic Association Studies
• Genetic Predisposition to Disease
• Genotyping Techniques
• HLA-DQ beta-Chains (genetics)
• HLA-DRB1 Chains (genetics)
• HLA-DRB4 Chains (genetics)
• Humans
• Iran
• Male
• Vitiligo (genetics)