Vitiligo susceptibility at workplace and in daily life: the contribution of oxidative stress gene polymorphisms

Chiarella, Pieranna

doi:10.1186/s41702-019-0043-1

Cited by 4 publications

References 51 publications

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A comprehensive meta-analysis and prioritization study to identify vitiligo associated coding and non-coding SNV candidates using web-based bioinformatics tools

Dutta

Mitra²,

Saha

et al. 2022

Sci Rep

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Vitiligo is a prevalent depigmentation disorder affecting around 1% of the general population. So far, various Genome Wide Association Studies (GWAS) and Candidate Gene Association Studies (CGAS) have identified several single nucleotide variants (SNVs) as a risk factor for vitiligo. Nonetheless, little has been discerned regarding their direct functional significance to the disease pathogenesis. In this study, we did extensive data mining and downstream analysis using several experimentally validated datasets like GTEx Portal and web tools like rSNPBase, RegulomeDB, HaploReg and STRING to prioritize 13 SNVs from a set of 291SNVs that have been previously reported to be associated with vitiligo. We also prioritized their underlying/target genes and tried annotating their functional contribution to vitiligo pathogenesis. Our analysis revealed genes like FGFR10P, SUOX, CDK5RAP1 and RERE that have never been implicated in vitiligo previously to have strong potentials to contribute to the disease pathogenesis. The study is the first of its kind to prioritize and functionally annotate vitiligo-associated GWAS and CGAS SNVs and their underlying/target genes, based on functional data available in the public domain database.

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A comprehensive meta-analysis and prioritization study to identify vitiligo associated coding and non-coding SNV candidates using web-based bioinformatics tools

Dutta

Mitra²,

Saha

et al. 2022

Sci Rep

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Footprints of stress in vitiligo: Association of the 5-HTR2C rs6318 variant

Yilmaz

Yazıcı

Ergören

et al. 2023

Preprint

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Vitiligo is a chronic autoimmune progressive dermatological disease and stress known to have impact on the development of vitiligo. However, the effect of serotonin has not been clearly explained for disease progression. Therefore, this study aimed to clarify stress induced 5-HTR2C rs6318 variant and its association with vitiligo pathogenesis. Study conducted with 108 vitiligo patients and 107 age-sex matched, unrelated healthy subjects as control group. Real Time-PCR analysis method was used for genotyping the 5-HTR2C variation. Genotype and allele frequencies considered for both control and patient groups. Genotype distributions for the Hardy-Weinberg Equilibrium (HWE) were analyzed. Vitiligo-related risk measures of different genotype combinations examined. Genotype correlations of the variant also analyzed based on gender difference, age onset of vitiligo, Koebner phenomenon history, clinical subgroups, treatment types, presence of other autoimmune diseases, vitiligo presence in family members and other autoimmune diseases in relatives. No statistically significant difference in 5HT-R2C receptor genotypes and allele frequencies between patient and control has been found. Genotype frequencies were not in agreement with the Hardy-Weinberg Equilibrium in the patients’ group (p < 0.00001). Frequency of the risk allele (allele C) was not significantly different between the patient and control groups (p = 0.1392). However, in the clinical subgroup analysis, the risk allele presence detected significantly higher for early age onset (< 40 years) vitiligo development (p = 0.0365) and lower in Koebner phenomenon history (p = 0.0276). As a result, although there was no association between the 5-HTR2C variant rs6318 and vitiligo, the current results indicated that there is a strong association between the 5HTR2C rs6318 variant C allele and early age onset vitiligo development.

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Footprints of Stress in Vitiligo: Association of the 5-HTR2C rs6318 Variant

Yilmaz,

Yazici,

Ergoren

et al. 2024

The EuroBiotech Journal

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Vitiligo is a chronic, progressive autoimmune dermatological disease, and stress is known to have an impact on the development of vitiligo. However, the effect of the serotonin pathway and its impact have not been clearly explained for disease progression. Thus, this study aimed to clarify the stress induced serotonin receptor 5-HTR2C rs6318 variant and its association with vitiligo pathogenesis. Case-control study was conducted with 108 vitiligo patients and 107 age-sex matched, unrelated healthy control group. Real Time-PCR analysis was used for genotyping the 5-HTR2C variation. Genotype and allele frequencies, genotype distributions, Hardy-Weinberg Equilibrium (HWE) and vitiligo-related risk measurements were examined. Genotype correlations of the variant were also analyzed based on gender difference, age onset, Koebner phenomenon history, triggered with stress, clinical subgroups, treatment types, the presence of other autoimmune diseases, vitiligo presence in family members and other auto-immune diseases in relatives. Statistical differences in 5HT-R2C receptor genotypes and allele frequencies between patients and controls were not detected. Genotype frequencies were not in agreement with Hardy-Weinberg Equilibrium in the patients’ group (p<0.00001). The frequency of the risk allele (allele C) was not significantly different between the patient and control groups (p=0.1392). However, in the clinical subgroup analysis, the risk allele presence was detected to be significantly higher for early age onset (<40 years) vitiligo development (p=0.035, OR=Infinity, RR=1.391) and lower in Koebner phenomenon history (p=0.0276, OR= 0.219, RR=0.325). In conclusion, although there was no association between the 5-HTR2C variant rs6318 and vitiligo, current results indicate that there is an association between the 5HTR2C rs6318 variant C allele and early onset vitiligo development.

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Vitiligo susceptibility at workplace and in daily life: the contribution of oxidative stress gene polymorphisms

Cited by 4 publications

References 51 publications

A comprehensive meta-analysis and prioritization study to identify vitiligo associated coding and non-coding SNV candidates using web-based bioinformatics tools

A comprehensive meta-analysis and prioritization study to identify vitiligo associated coding and non-coding SNV candidates using web-based bioinformatics tools

Footprints of stress in vitiligo: Association of the 5-HTR2C rs6318 variant

Footprints of Stress in Vitiligo: Association of the 5-HTR2C rs6318 Variant

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