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

Huraib, Ghaleb Bin; Harthi, Fahad Al; Arfin, Misbahul; Aljamal, Abdulrahman; Alrawi, Abdulqader Saeed; Alasmari, Abdulrahman

doi:10.1177/1177271920903038

Cited by 7 publications

(5 citation statements)

References 53 publications

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“…In our study we showed statistically significant differences ( p = 0.001) in the frequency of genotypes between the experimental and the control group, what confirms the association of the 1858 C/T polymorphism of the PTPN22 gene with vitiligo. CT heterozygotes were the most frequent genotype in the experimental group, what is consistent with other studies [ 46 , 47 , 49 , 50 ].…”

Section: Discussionsupporting

confidence: 93%

“…They concluded that this allele predisposes to vitiligo in Europeans, but not in Asians and Americans. In recent studies, Huraib et al [46] and Rajendiran et al [47] showed an association of this polymorphism in the Saudi and South Indian Tamil populations, respectively. However, Akbas et al [48] did not observe such correlations in the Turkish population.…”

Section: Discussionmentioning

confidence: 95%

“…In recent studies, Huraib et al . [ 46 ] and Rajendiran et al . [ 47 ] showed an association of this polymorphism in the Saudi and South Indian Tamil populations, respectively.…”

Section: Discussionmentioning

confidence: 99%

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Evaluation of polymorphisms and expression of PTPN22, NLRP1 and TYR genes in vitiligo patients

Męcińska-Jundziłł¹,

Tadrowski²,

Jundziłł³

et al. 2023

pdia

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Introduction: Vitiligo is a pigmentary disorder associated with a selective loss of melanocytes in the skin, its appendages and mucous membranes. Aim: The aim of the study was to evaluate the association between the rs2476601 polymorphism of the PTPN22 gene, the rs2670660 and rs6502867 polymorphisms of the NLRP1 gene and the rs1847134 and rs1393350 polymorphisms of the TYR gene and vitiligo. Another aim was to compare the gene expression in lesional and symmetrically non-lesional skin of vitiligo patients and healthy controls. Material and methods: The experimental group consisted of 42 patients and the control group consisted of 38 healthy volunteers. The polymorphisms of the genes were assessed with PCR-RFLP technique and gene expression with qRT-PCR technique. Results: We found that the CT genotype of the PTPN22 rs2476601 polymorphism is more frequent in vitiligo patients, in the case of the NLRP1 rs2670660 polymorphism it was the AG genotype, in the NLRP1 rs6502867 polymorphism they were the CT and CC genotypes and in the TYR rs1393350 polymorphism it was the AG genotype. There was no association between vitiligo and the TYR rs1847134 polymorphism. We found statistically significant differences in gene expression in the lesional and symmetrical non-lesional skin of vitiligo patients compared to the control group. Conclusions: Our analysis showed genotypes predisposing to vitiligo. We found that the gene expression is different not only in lesional but also in non-lesional skin of vitiligo patients, what may change the approach to treatment of the disease.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 95%

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Evaluation of polymorphisms and expression of PTPN22, NLRP1 and TYR genes in vitiligo patients

Męcińska-Jundziłł¹,

Tadrowski²,

Jundziłł³

et al. 2023

pdia

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“…[11][12][13][14][15][16][17] Yet, the CT genotype is not exclusive for AIT, it was reported in children with diabetes mellitus type 1 (T1DM), where it is more dominant followed by CC and TT, in vitiligo and immune skin diseases. [18][19][20] Central hypothyroidism was observed in 83.9% of participants. According to Pierce et al (2017), thyroid dysfunction in DS was more common than in non-DS children, but the disorder was mostly transient.…”

Section: Discussionmentioning

confidence: 99%

Protein tyrosine phosphatase non-receptor type 22 C1858T gene polymorphism in children with down syndrome and autoimmune thyroid diseases

et al. 2023

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Autoimmune Thyroid Disease (AIT) is a frequent comorbidity in Down Syndrome (DS). Protein Tyrosine Phosphatase Non- Receptor Type 22 C1858T (PTPN-22 C1858T) gene polymorphisms have a role in the progression of AIT. The study on PTPN- 22 C1858T gene polymorphism as the risk factor of AIT in DS children is still limited. This study aims to evaluate PTPN-22 C1858T polymorphism in Indonesian DS children. A cross-sectional study involving 31 DS children with hypothyroidism (19 boys/12 girls) was conducted for ten months from February to November 2020 at Dr. Soetomo General Hospital Surabaya. The PTPN-22 C1858T gene polymorphism was analyzed using Polymerase Chain Reaction-Restriction-Fragment-Length Polymorphism (PCR-RFLP). Anti-Thyroid Peroxidase (Anti- TPO) and Anti-Thyroglobulin (Anti-TG), FT4, T3, and TSH levels were analyzed using Enzyme-Linked-Immunosorbent-Assay (ELISA). The mean age of the subjects was 19.45±17.3 months. The CT variant of PTPN-22 C1858T was observed in all subjects. The mean level of T3, FT4, and TSH were 1.59±0.45 ng/mL, 0.81±0.57 ng/mL, 0.22±0.21 μU/mL, respectively. Around 83.9% of patients suffered from central hypothyroidism, 12.9% from primary hypothyroidism, and 3.2% from subclinical hypothyroidism. The positive anti-TG and anti-TPO were observed in 96.8% and 58.1%, respectively. CT variant was observed in Indonesian DS children who suffered from hypothyroidism.

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“…2 Reductions in beauty, self-esteem, and quality of life occur in patients with vitiligo. 3 Currently, the main treatments for vitiligo are non-labeled immunosuppressants, such as systemic or topical steroids, topical calcium-regulated neurophosphatase inhibitors, combined with the use of ultraviolet light. 4 In addition, drug candidates for ameliorating vitiligo include targeting the Janus kinase, and Wnt signaling, and microRNAs, or regulatory T cells.…”

Section: Introductionmentioning

confidence: 99%

Erzhiwan Ameliorates Restraint Stress- and Monobenzone-Induced Depigmentation in Mice by Inhibiting Macrophage Migration Inhibitory Factor and 8-Hydroxy-2-Deoxyguanosine

Tang,

Liu,

Lin

et al. 2024

CCID

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Vitiligo is an autoimmune disease that results in the loss of epidermal melanocytes. The treatments for patients with vitiligo remain lacking. Erzhiwan (EZW), a traditional Chinese Medicine composed of Ligustri Lucidi Fructus and Ecliptae Herba, was used to ameliorate depigmentation since ancient China. This study aims to investigate the effect of EZW on vitiligo-related depigmentation. Methods: A vitiligo-related depigmentation mouse model was induced by monobenzone and restraint stress. The experimental depigmentation mice were treated with EZW. Histological observation of skin was conducted. Cutaneous oxidative damage and inflammation were determined. A network pharmacology analysis was carried out. Results: EZW reduced depigmentation score (p<0.01), cutaneous inflammatory infiltration (p<0.01), and CD8α-positive expression (p<0.01), and increased cutaneous melanin content in experimental depigmentation mice. EZW reduced stress reaction in experimental depigmentation mice (p<0.01). EZW inhibited 8-hydroxy-2-deoxyguanosine (8-OHdG)-related DNA oxidative damage in the skin (p<0.05, p<0.01). In addition, EZW reduced cutaneous macrophage migration inhibitory factor (MIF)-CD74-NF-κB signaling (p<0.01). The network pharmacology analysis demonstrated that EZW regulated necroptosis, apoptosis, and FoxO signaling pathways in vitiligo. An in vitro experiment showed that the main ingredient of EZW, specnuezhenide, protected against monobenzone and MIFinduced cell death in HaCaT cells (p<0.01). Conclusion: EZW ameliorates restraint stress-and monobenzone-induced depigmentation via the inhibition of MIF and 8-OHdG signaling. The findings provide a data basis of an utilization of EZW in vitiligo.

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

Cited by 7 publications

References 53 publications

Evaluation of polymorphisms and expression of PTPN22, NLRP1 and TYR genes in vitiligo patients

Evaluation of polymorphisms and expression of PTPN22, NLRP1 and TYR genes in vitiligo patients

Protein tyrosine phosphatase non-receptor type 22 C1858T gene polymorphism in children with down syndrome and autoimmune thyroid diseases

Erzhiwan Ameliorates Restraint Stress- and Monobenzone-Induced Depigmentation in Mice by Inhibiting Macrophage Migration Inhibitory Factor and 8-Hydroxy-2-Deoxyguanosine

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