Association of human beta-defensin 1 gene polymorphisms with nonsegmental vitiligo

Ochoa‐Ramírez, Luis Antonio; Becerra-Loaiza, Denisse Stephania; Díaz‐Camacho, Sylvia Páz; Muñoz-Estrada, V. F.; Ríos-Burgueño, Efrén Rafael; de, Ernesto Prado-Montes; Rangel-Villalobos, Héctor; Velarde‐Félix, Jesús Salvador

doi:10.1111/ced.13697

Cited by 11 publications

(24 citation statements)

References 24 publications

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“…Besides its main function as an active antimicrobial peptide, hBD‐1 is also an immunomodulator that is upregulated in different inflammatory conditions suggesting its immunoregulatory effects 5 . It is involved in the chemoattraction and maturation of dendritic cells, facilitating their antigen uptake, processing and presentation actions which are essential in the pathogenesis of various allergic and autoimmune diseases 6 …”

Section: Introductionmentioning

confidence: 99%

DEFB1 gene polymorphisms modify vitiligo extent and response to NB‐UVB phototherapy

Salem

Abdelrahman

El-Kareem

et al. 2021

Dermatologic Therapy

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Human beta defensin‐1(hBD‐1); an antimicrobial peptide, has immune regulatory effects which may be involved in autoimmunity. The aims were to evaluate the association between defensin beta 1 (DEFB1) (‐44 C/G) and (‐20 G/A) gene polymorphisms with the risk of vitiligo development, the extent of the disease and the response to NB‐UVB treatment in a sample of Egyptian population. 178 active nonsegmental vitiligo patients and 182 control subjects were included in this prospective case control study. Vitiligo extent was evaluated using vitiligo area scoring index (VASI). Gene polymorphisms in all participants were studied by RFLP PCR technique. Patients were treated by three narrowband UVB (NB‐UVB) treatment sessions per week. After 12 weeks, the patients were reevaluated clinically to assess the extent of the disease using VASI scoring again and to evaluate the type of repigmentation, if any. AA genotype of DEFB1 (‐20G/A) has a protective role against vitiligo development, while (DEFB1 ‐44 C/G) GG genotype and G allele increase the risk of vitiligo development about two folds. Patients carrying polymorphism in DEFB1 (‐20G/A) only showed the lowest VASI scores (14.23 ± 2.77) and the highest percentage of improvement (66.12 ± 18.01%), while patients carrying polymorphism in DEFB1(‐44 C/G) only showed the highest baseline VASI scores (38.87 ± 6.7) and the lowest therapeutic response (23.79 ± 19.42%) among all patients groups. Different DEFB1 gene polymorphisms may modify the risk of vitiligo development, the disease extent and the response to NB‐UVB phototherapy.

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Section: Introductionmentioning

confidence: 99%

DEFB1 gene polymorphisms modify vitiligo extent and response to NB‐UVB phototherapy

Salem

Abdelrahman

El-Kareem

et al. 2021

Dermatologic Therapy

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“…It is a polygenic disease and several genes related to autoimmunity have been reported to be associated with the pathogenesis of vitiligo. 11,22-26…”

Section: Introductionmentioning

confidence: 99%

“…It is a polygenic disease and several genes related to autoimmunity have been reported to be associated with the pathogenesis of vitiligo. 11,[22][23][24][25][26] The protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene encodes a lymphoid protein tyrosine phosphatase (LYP) which is involved in autoimmunity by preventing spontaneous T-cell activation and T-cell development and inactivating T-cell receptor (TCR)-associated kinases and their substrates. PTPN22 is expressed in lymphocytes.…”

Section: Introductionmentioning

confidence: 99%

Association of Functional Polymorphism in Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) Gene with Vitiligo

et al. 2020

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The protein tyrosine phosphatase nonreceptor 22 (PTPN22) is associated with susceptibility to autoimmune diseases. The functional polymorphism in PTPN22 at 1857 is a strong risk factor for vitiligo susceptibility in Europeans; however, controversy exits in other populations. Present study was aimed to determine whether the PTPN22 C1857T polymorphism confers susceptibility to vitiligo in Saudi Arabians. Genomic DNA was extracted and amplified using tetra primer amplification-refractory mutation system polymerase chain reaction (ARMS-PCR) method. The frequencies of allele T and genotype CT of PTPN22 C1858T polymorphism were significantly higher, whereas those of allele C and genotype CC were lower in patients as compared with controls ( P < 0.0001). The genotype TT was absent in both the patients and controls. It is concluded that PTPN22 C1858T polymorphism is strongly associated with vitiligo susceptibility. However, additional studies are warranted using large number of samples from different ethnicities and geographical areas.

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“…Vitiligo commonly shows familial aggregation and multifactorial mode of inheritance. It is a polygenic disease, and several genes related to autoimmunity have been reported to be associated with the pathogenesis of vitiligo [20][21][22][23][24][25].…”

Section: Vitiligomentioning

confidence: 99%

The Protein Tyrosine Phosphatase Non-Receptor Type 22 (PTPN22) Gene Polymorphism and Susceptibility to Autoimmune Diseases

Huraib¹,

Harthi²,

Arfin³

et al. 2020

The Recent Topics in Genetic Polymorphisms

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The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene located on chromosomes 1p 13.3-13 encodes a lymphoid-specific tyrosine phosphatase (Lyp) which is involved in autoimmunity by preventing spontaneous T-cell activation and T-cell development and inactivating T-cell receptor-associated kinases and their substrates. Several single nucleotide polymorphisms (SNPs) have been identified in PTPN22, but only one PTPN22 C1858T has been intensively studied in relation to autoimmune diseases. The PTPN22 C1858T functional polymorphism is a strong non-HLA risk factor for several autoimmune diseases and considered to play an important role in etiology of diseases due to significant production of autoantibodies. However, available literature on PTPN22 C1858T polymorphism and autoimmune diseases shows inconsistencies and ethnic variations. Therefore, further genetic studies on patients suffering from various autoimmune diseases from different ethnicities and PTPN22 gene polymorphisms are expected to help better understand the pathogenesis and will contribute to the development of more targeted therapies and biomarkers.

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Association of human beta-defensin 1 gene polymorphisms with nonsegmental vitiligo

Cited by 11 publications

References 24 publications

DEFB1 gene polymorphisms modify vitiligo extent and response to NB‐UVB phototherapy

DEFB1 gene polymorphisms modify vitiligo extent and response to NB‐UVB phototherapy

Association of Functional Polymorphism in Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) Gene with Vitiligo

The Protein Tyrosine Phosphatase Non-Receptor Type 22 (PTPN22) Gene Polymorphism and Susceptibility to Autoimmune Diseases

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