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

Farag, Azza Gaber Antar; Shoeib, Mohamed Abd AlMoneam; labeeb, Azza Zagloul; Sleem, Asmaa Shaaban; Khallaf, Hagar Mahmoud AbdElkader; Khallaf, Amany Salah; Elshaib, Mustafa Elsayed; Elnaidany, Nada Farag; Hanout, Hayam Mohamed Aboelnasr

doi:10.1016/j.abd.2022.04.002

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ORIGINAL ARTICLE • An. Bras. Dermatol. 98 (2) • Mar-Apr 2023 • https://doi.org/10.1016/j.abd.2022.04.002 copy

Human beta-defensin 1 circulating level and gene polymorphism in non-segmental vitiligo Egyptian patients^☆ ☆ Study conducted at the Dermatology, Andrology and STDs department, and Molecular Biology department, Faculty of Medicine Menoufia University, Egypt.

Authorship SCIMAGO INSTITUTIONS RANKINGS

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.

Objectives:

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 limitations:

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

Personal characteristics	Vitiligo patients (n = 50)		Controls (n = 50)		Test of significance	p-value
Age (years)					U = 0.97	0.335
Mean ± SD	30.08± 14.46		32.30±7.27
Median	30		33
Range	7–60		18–46
	n	%	n	%	χ²	p-value
Sex					3.27	0.070
Males	27	54.0	18	36.0
Females	23	46.0	32	64.0
Family history of vitiligo
Positive	6	12.0
Negative	44	88.0	–		–	–
Disease duration/month
Mean ± SD	17.28 ± 17.78			–	–	–
Median	12
Range	3–120
VASI score
Mean ± SD	3.72±2.38			–	–	–
Median	3.50
Range	0.1–10
Types of vitiligo
Acrofacial	18	36.0		–	–	–
Generalized	10	20.0
Focal	22	44.0
Hair affection
No	46	92.0	–		–	–
Yes	4	8.0
Mucous membrane affection
No	46	92.0
Yes	4	8.0	–		–	–

DEFB-1 genotypes	Patients (n = 50)		Controls (n = 50)
DEFB-1 genotypes	Observed	Expected	Observed	Expected
GG	37	37.8	0	0.5
AG	13	11.3	10	9
AA	0	0.8	40	40.5
p-value	0.290		0.432

DEFB-1 genotypes	Patients (n = 50) n (%)	Controls (n = 50) n (%)	χ²	p-value	OR (95% Cl)
GG	37 (74.0)	0	77.39	< 0.001^a DEFB-1, Defensin Beta-1; OR, Odd’s Ratio; Cl, Confidence Interval; χ2, Chi-Square test; n, number.	–
AG	13 (26.0)	10 (20.0)
AA	0	40 (80.0)
Alleles	(n = 100)	(n = 100)	118.69	< 0.001^a	60.23
G	87 (87.0)	10 (10.0)			(25.10 -144.56)
A	13 (13.0)	90 (90.0)

DEFB-1 genotypes	Serum HBD-1 levels (ng/mL)
DEFB-1 genotypes	Patients (n = 50) Mean ± SD	Controls (n = 50) Mean ± SD
GG	10.82 ± 4.47	–
AG	12.08 ± 5.44	45.23 ± 5.88
AA	–	46.85 ± 7.00
Mann-Whitney test	0.51	0.36
p-value	0.611	0.716

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E-mail: revista@sbd.org.br

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[1] * Corresponding author. E-mail: azzagaber92@yahoo.com (A.G. Farag).

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Human beta-defensin 1 circulating level and gene polymorphism in non-segmental vitiligo Egyptian patients☆ ☆ Study conducted at the Dermatology, Andrology and STDs department, and Molecular Biology department, Faculty of Medicine Menoufia University, Egypt.

Abstract

Background:

Objectives:

Methods:

Results:

Study limitations:

Conclusions:

Human beta-defensin 1 circulating level and gene polymorphism in non-segmental vitiligo Egyptian patients^☆ ☆ Study conducted at the Dermatology, Andrology and STDs department, and Molecular Biology department, Faculty of Medicine Menoufia University, Egypt.