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. 2023 Mar-Apr;98(2):181-188.
doi: 10.1016/j.abd.2022.04.002. Epub 2022 Dec 17.

Human beta-defensin 1 circulating level and gene polymorphism in non-segmental vitiligo Egyptian patients

Azza Gaber Antar Farag  1 , Mohamed Abd AlMoneam Shoeib  2 , Azza Zagloul Labeeb  3 , Asmaa Shaaban Sleem  3 , Hagar Mahmoud AbdElkader Khallaf  4 , Amany Salah Khalifa  5 , Mustafa Elsayed Elshaib  6 , Nada Farag Elnaidany  7 , Hayam Mohamed Aboelnasr Hanout  2
Affiliations

Human beta-defensin 1 circulating level and gene polymorphism in non-segmental vitiligo Egyptian patients

Azza Gaber Antar Farag et al. An Bras Dermatol. 2023 Mar-Apr.

Abstract

Background: Vitiligo is an acquired depigmented skin disorder. It has a genetic and autoimmune background. Human beta defensin-1(HBD-1) plus its gene polymorphism were linked to some autoimmune disorders.

Objective: To elucidate the possible role of HBD-1 in the pathogenesis of non-segmental vitiligo (NSV) through evaluation of HBD-1 serum levels and its single nucleotide polymorphism (SNP) in patients having NSV, in addition, to correlating the results with the extent of vitiligo in those patients.

Methods: A current case-control study included 50 patients having NSV and 50 controls. The authors used Vitiligo Area Scoring Index (VASI) score to assess vitiligo severity and laboratory investigations to assess serum HBD-1 level using ELISA and defensin-beta1 (DEFB1) SNP using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).

Results: There were significantly lower HBD-1 serum levels in NSV cases than in controls (p < 0.001). There was a significant predominance of GG DEFB1 genotype and G allele in NSV patients in comparison to controls (p < 0.001). The levels of serum HBD-1 and DEFB1 genotypes were not associated or correlated significantly with any of the personal and clinical parameters of vitiligo patients.

Study limitation: The small sample size.

Conclusions: DEFB1 gene polymorphism (GG genotype and G allele) may modulate vitiligo risk and contribute to vitiligo development in Egyptian populations. Decreased circulating HBD-1 levels might have an active role in vitiligo etiopathogenesis that could be mediated through its possible anti-inflammatory effects.

Keywords: Genes; Polymorphism, genetic; Vitiligo.

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Figures

Figure 1
Figure 1
Serum HBD-1 levels in vitiligo patients and controls.
Figure 2
Figure 2
(A) Agarose gel electrophoresis images PCR product: 268-bp. (B) Agarose gel electrophoresis images for DEFB1 SNPs G20A, AA genotype: 268-bp, GG genotype: 143-bp, 125-bp, AG genotype.
See this image and copyright information in PMC

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