Genetics of Vitiligo

Roberts, Genevieve H.L.; Spritz, Richard A.

doi:10.1002/9780470015902.a0026934

Cited by 4 publications

(5 citation statements)

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“…Taken together, these genetic studies confirmed that vitiligo has an autoimmune basis, as about 85% of the identified vitiligo susceptibility genes encode proteins involved in immunity and apoptosis (Roberts et al, 2019b). Furthermore, about half of those genes have also been identified by independent genetic studies of other autoimmune diseases that are epidemiologically associated with vitiligo, supporting their role in shared autoimmune predisposition (Roberts & Spritz, 2018). The identified vitiligo susceptibility genes and corresponding pathways provided deep insights into the biological mechanisms that underlie vitiligo, a topic that has been addressed previously by several recent comprehensive reviews (Roberts & Spritz, 2018;Spritz & Andersen, 2017).…”

Section: Introductionmentioning

confidence: 58%

“…Furthermore, about half of those genes have also been identified by independent genetic studies of other autoimmune diseases that are epidemiologically associated with vitiligo, supporting their role in shared autoimmune predisposition (Roberts & Spritz, 2018). The identified vitiligo susceptibility genes and corresponding pathways provided deep insights into the biological mechanisms that underlie vitiligo, a topic that has been addressed previously by several recent comprehensive reviews (Roberts & Spritz, 2018;Spritz & Andersen, 2017). Here, we instead address recent developments related to the overall genetic architecture of vitiligo as a complex disease, the genetic basis of clinical variation among vitiligo cases, and the relationship of vitiligo genetic susceptibility to environmental triggers.…”

Section: Introductionmentioning

confidence: 91%

“…These included heritability studies, candidate gene association studies, genetic linkage studies, and genome-wide association studies (GWAS). Today, at least 54 unique verified vitiligo susceptibility loci have been implicated in vitiligo cases of European ancestry (Spritz & Andersen, 2017;Roberts & Spritz, 2018), the most deeply studied human super-population. Of these loci, 50 were detected by GWAS, the most productive and reliable approach (Figure 2; Jin et al, 2016).…”

Section: Introductionmentioning

confidence: 99%

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The genetic architecture of vitiligo

Roberts¹,

Santorico

Spritz

2019

Pigment Cell Melanoma Res

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Vitiligo is an autoimmune disease in which destruction of skin melanocytes results in patches of white skin and hair. Genome-wide linkage studies and GWAS in European ancestry cases identified over 50 vitiligo susceptibility loci, defining a model of melanocyte-directed autoimmunity. Vitiligo heritability is exceedingly high, ~2/3 coming from common and ~1/3 from rare genomic variants; ~20% of vitiligo risk is environmental. Vitiligo genetic risk is polygenic, with greater additive risk in multiplex vitiligo families than simplex cases. Vitiligo age-of-onset is bimodal, also involving a major genetic component; a MHC enhancer haplotype confers extreme risk for vitiligo (OR 8.1) and early disease onset, increasing expression of HLA-DQB1 mRNA and HLA-DQ protein and thus perhaps facilitating presentation of triggering antigens. Vitiligo triggering also involves a major environmental component; dramatic delay in vitiligo age-of-onset, especially from 1973-2004, suggests that exposure or response to a key vitiligo environmental trigger diminished during this period. Together, these findings provide deep understanding of vitiligo pathogenesis and genetic architecture, suggesting that vitiligo represents a tractable model for investigating complex disease genetic architecture and predictive aspects of personalized medicine.

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Section: Introductionmentioning

confidence: 58%

Section: Introductionmentioning

confidence: 91%

Section: Introductionmentioning

confidence: 99%

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The genetic architecture of vitiligo

Roberts¹,

Santorico

Spritz

2019

Pigment Cell Melanoma Res

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“…Indeed, about 80% of vitiligo risk is attributable to genetic factors; and the rest (20%) is attributable to the environment 40,44 . This was found in the European ancestry population 40,41,45 as well as in populations across the world 38,46–48 . Large‐scale genome‐wide association studies (GWAS) performed in European‐derived whites and in Chinese have revealed over 50 different genetic loci that confer a vitiligo risk 44,49–56 .…”

Section: Pathogenesismentioning

confidence: 99%

Vitiligo: A focus on pathogenesis and its therapeutic implications

Bergqvist

Ezzedine

2021

The Journal of Dermatology

101

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Vitiligo is the most common depigmenting disorder affecting 0.1%–2% of the population worldwide. The characteristic white patches result from the selective loss of melanocytes. Sustained recent efforts have resulted in a detailed understanding of the genetic architecture of vitiligo. About 80% of vitiligo risk is attributable to genetic factors; and the rest (20%) is attributable to the environment. Over the past decade, substantial progress has been made in our understanding of the pathogenesis of vitiligo which is now clearly classified as an autoimmune disease. Melanocytes from patients with vitiligo are more susceptible to oxidative stress which begets the release of exosomes and inflammatory cytokines that will lead to activation of the innate immune response and subsequently to adaptive immune response through activation of autoreactive cytotoxic CD8+ T cells. These produce interferon‐γ (IFN‐γ) which promotes disease progression through IFN‐γ‐induced chemokine secretion from surrounding keratinocytes to further recruit T cells to the skin through a positive feedback loop. CD8 tissue‐resident memory T cells are in turn responsible for long‐term maintenance and potential relapse of vitiligo in human patients through cytokine‐mediated recruitment of T cells from the circulation. This review summarizes the current knowledge on vitiligo and attempt to give an overview of the future in vitiligo treatment.

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“…About 85% of associated genes encode proteins involved in the functioning of the immune system and the process of apoptosis [ 6 ]. About half of these genes were identified in independent genetic studies of other autoimmune diseases [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

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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Genetics of Vitiligo

Cited by 4 publications

References 49 publications

The genetic architecture of vitiligo

The genetic architecture of vitiligo

Vitiligo: A focus on pathogenesis and its therapeutic implications

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

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