Correlation of increased MYG1 expression and its promoter polymorphism with disease progression and higher susceptibility in vitiligo patients

Dwivedi, Mitesh; Laddha, Naresh C.; Begum, Rasheedunnisa

doi:10.1016/j.jdermsci.2013.04.026

Cited by 22 publications

(16 citation statements)

References 47 publications

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“…We have also shown that the three most significant class II region SNPs – rs3096691 (just upstream of NOTCH4 ), rs3129859 (just upstream of HLA‐DRA ), and rs482044 (between HLA‐DRB1 and HLA‐DQA1 ) – are associated with GV in an Indian population . The genotype–phenotype correlation of TNF , CTLA4 , IL4, IFNG and MYG1 ( C12orf10 ) gene polymorphisms also supports the autoimmune pathogenesis of vitiligo in the Gujarat population, whereas our earlier studies on CAT , GPX , MBL2 , ACE and PTPN22 polymorphisms did not show significant association . In addition, our recent study indicates that an imbalance of the CD4+/CD8+ ratio and natural regulatory T cells in frequency and function might be involved in the T cell‐mediated pathogenesis of GV and its progression …”

Section: Discussionsupporting

confidence: 67%

“…37 The genotypephenotype correlation of TNF, CTLA4, IL4, IFNG and MYG1 (C12orf10) gene polymorphisms also supports the autoimmune pathogenesis of vitiligo in the Gujarat population, whereas our earlier studies on CAT, GPX, MBL2, ACE and PTPN22 polymorphisms did not show significant association. 21,[38][39][40][41][42][43][44][45] In addition, our recent study indicates that an imbalance of the CD4+/CD8+ ratio and natural regulatory T cells in frequency and function might be involved in the T cell-mediated pathogenesis of GV and its progression. 46 In conclusion, our findings suggest that the increased NLRP1 expression in patients with GV could result, at least in part, from variations at the genetic level.…”

Section: Discussionmentioning

confidence: 99%

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Association ofNLRP1genetic variants and mRNA overexpression with generalized vitiligo and disease activity in a Gujarat population

et al. 2013

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SummaryBackground It has been suggested that NLRP1 is involved in susceptibility to a wide range of autoimmune diseases including generalized vitiligo (GV). Genetic polymorphisms in the gene encoding NLRP1 (previously known as NALP1) have previously been shown to be associated with GV and there is speculation about their involvement in the regulation of NLRP1 expression. Objectives To explore NLRP1 polymorphisms and investigate their association with NLRP1 mRNA expression and disease activity in patients with GV. Methods Polymerase chain reaction (PCR)-restriction fragment length polymorphism and TaqMan single nucleotide polymorphism (SNP) genotyping techniques were used to genotype NLRP1 A/G (rs2670660), T/C (rs6502867) and A/T (rs12150220) polymorphisms in 537 patients with GV and 645 controls in Gujarat. NLRP1 mRNA levels were measured in the whole blood of 122 patients with GV and 175 controls using real-time PCR. Results The NLRP1 rs2670660 and rs6502867 polymorphisms were found to be in significant association with GV, minor alleles of these SNPs being prevalent in active cases of GV. The rs12150220 polymorphism was found have a marginal association with GV. The frequency of susceptible haplotype 'GCT' was significantly higher in patients with GV and increased the risk of vitiligo twofold. A significant increase in NLRP1 mRNA expression was observed in patients with GV and patients with active GV. NLRP1 mRNA expression was increased in patients with GV with the susceptible GG (rs2670660) and CC (rs6502867) genotypes. Patients with the susceptible GG (rs2670660) and CC (rs6502867) genotypes had early age of onset of GV. Moreover, patients in the age at onset group of 1-20 years showed increased expression of NLRP1 mRNA compared with the older age groups. Female patients showed a significant increase in NLRP1 mRNA and early age at onset of GV compared with male patients. Conclusions Our results suggest that NLRP1 rs2670660 and rs6502867 polymorphisms may be genetic risk factors for susceptibility to and progression of GV. The upregulation of NLRP1 mRNA in patients with susceptible genotypes advocates the crucial role of NLRP1 in GV.

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Section: Discussionsupporting

confidence: 67%

Section: Discussionmentioning

confidence: 99%

Association ofNLRP1genetic variants and mRNA overexpression with generalized vitiligo and disease activity in a Gujarat population

et al. 2013

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“…Clinically, the vitiligo was diagnosed according to the characteristic skin depigmentation with typical localization and white color on the skin lesions under Woods lamp (Dwivedi et al, 2013). Clinically, the vitiligo was diagnosed according to the characteristic skin depigmentation with typical localization and white color on the skin lesions under Woods lamp (Dwivedi et al, 2013).…”

Section: Study Subjectsmentioning

confidence: 99%

“…A total of 164 Chinese vitiligo patients admitted at our hospital were collected as Case group. Clinically, the vitiligo was diagnosed according to the characteristic skin depigmentation with typical localization and white color on the skin lesions under Woods lamp (Dwivedi et al, 2013). The Case group included 68 males and 96 females with the mean age of 26.8 years (6 months to 70 years), among which 46 cases were active and 118 cases were stable.…”

Section: Study Subjectsmentioning

confidence: 99%

“…Vitiligo is an acquired progressive skin disease of depigmentation, which is mainly characterized with local epidermal functional loss of melanocytes (Reichert Faria, Jung, Silva de Castro, & de Noronha, 2017). On the basis of different distribution pattern, vitiligo is widely classified into four types including localized, sporadic, acral, and segmental, which can be also subdivided into active vitiligo and stable vitiligo according to its clinical activity (Dwivedi, Laddha, & Begum, 2013). As a common skin disorder, vitiligo is estimated to affect about 1-2% of the whole world population without gender or racial differences (Li, Qiao, Wang, Zhao, & Sun, 2017).…”

Section: Introductionmentioning

confidence: 99%

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The expression change of RORγt, BATF, and IL‐17 in Chinese vitiligo patients with 308 nanometers excimer laser treatment

Wang

Zhang

Zhou

et al. 2018

Dermatologic Therapy

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This study aims to explore the expression of RORγt, BATF, and IL-17 in Chinese vitiligo patients with 308 nm excimer laser treatment. One hundred and sixty-four vitiligo patients treated with 308 nm excimer laser were enrolled as Case group and 137 health examiners as Control group. Quantitative real-time polymerase chain reaction and immunohistochemistry were conducted to detect the expressions of RORγt, BATF, and IL-17. Expression of RORγt, BATF, IL-17A, and IL-17F were higher in Case group than Control group, with the diagnostic accuracy of 88.04, 87.38, 97.34, and 89.04%, respectively. Pearson correlation analysis showed a positive correlation in RORγt, BATF, IL-17A, and IL-17F mRNAs in vitiligo patients. Moreover, their expressions were higher in active vitiligo patients than stable ones. Besides, the expressions of RORγt, BATF, IL-17A, and IL-17F in vitiligo skin were significantly higher than those in non lesional skin and normal controls. After treatment, their expressions were significantly decreased. Active vitiligo and the high expressions of RORγt, BATF, and IL-17F were the independent risk factors for the ineffectiveness of 308 nm excimer laser treatment. The expressions of RORγt, BATF, IL-17 were significantly enhanced in vitiligo patients, which were correlated with the activity of vitiligo and 308 nm excimer laser therapeutic effects.

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Biomarkers and clinical indicators of disease activity in vitiligo

Delbaere

Speeckaert

Herbelet

et al. 2022

Dermatological Reviews

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Background:The management of vitiligo is guided by the assessment of disease activity. However, this assessment is hampered by the absence of a highly feasible and reliable single marker to evaluate activity. Furthermore, the need for an objective, easy, preferably noninvasive marker is further stressed by the increased amount of research performed on new treatment strategies for vitiligo.Objectives: In this review, the available research on clinical signs linked to disease activity, and biomarkers in tissues and blood are summarized.Results: In the group of clinical signs, the Koebner phenomenon has the strongest evidence of an association with disease activity, while confetti-like depigmentation is gaining importance and seems to outweigh this role. For the tissue markers, the most evidence is available for histopathological findings, such as epidermal spongiosis with vacuolar degeneration in the basal cells and inflammatory infiltrate. Circulating biomarkers such as interleukin-1β (IL-1β), IL-17, interferon-γ, tumor growth factor-β, soluble cluster of differentiation 25, autoantibodies, and oxidative stress markers show the most promising results. Nevertheless, none of them are currently regarded as the gold standard.Discussion: In conclusion, we encourage researchers to investigate various biomarkers and clinical signs in their trials in a standardized manner to get insight into their exact value, so they can be used to optimize treatment selection, gain insight into the disease, and predict future disease progression.

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Correlation of increased MYG1 expression and its promoter polymorphism with disease progression and higher susceptibility in vitiligo patients

Cited by 22 publications

References 47 publications

Association ofNLRP1genetic variants and mRNA overexpression with generalized vitiligo and disease activity in a Gujarat population

Association ofNLRP1genetic variants and mRNA overexpression with generalized vitiligo and disease activity in a Gujarat population

The expression change of RORγt, BATF, and IL‐17 in Chinese vitiligo patients with 308 nanometers excimer laser treatment

Biomarkers and clinical indicators of disease activity in vitiligo

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