The<i>TNFAIP3</i>polymorphism rs610604 both associates with the risk of psoriasis vulgaris and affects the clinical severity

Zhang, C.; Zhu, Kun-Ju; Liu, H.; Cheng, Qimin; Liu, Z.; Li, S.-J.; Zhu, Chenglin; Li, K.-S.; Fan, Yunlong

doi:10.1111/ced.12536

Cited by 9 publications

(9 citation statements)

References 22 publications

(37 reference statements)

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“…Keratinocyte-specific deletion of A20 results in epidermal hyperproliferation and ectodermal defects, but skin infiltration of immune cells has not been observed (Lippens et al, 2011). Genome-wide association studies identified TNFAIP3/A20 as a susceptibility locus for psoriasis (Haase et al, 2015;Indhumathi et al, 2015;Li et al, 2014;Nair et al, 2009;and Zhang et al, 2015), and its role as a negative regulator in Th2-associated lung inflammation, in particular through its expression by dendritic cells, has been well characterized (Schuijs et al, 2015;Vroman et al, 2018). On the other hand, some cases of A20 haploinsufficiency yield distinct autoinflammatory and/or autoimmune skin pathology, possibly with skin ulcerations and pustular abscesses (Kadowaki et al, 2017;Takagi et al, 2017;Zhou et al, 2016).…”

Section: Introductionmentioning

confidence: 99%

Keratinocyte Expression of A20/TNFAIP3 Controls Skin Inflammation Associated with Atopic Dermatitis and Psoriasis

Devos

Mogilenko

Fleury

et al. 2019

Journal of Investigative Dermatology

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Keratinocytes are key players in chronic inflammatory skin diseases. A20 regulates NF-κB-dependent expression of proinflammatory genes and cell death, but the impact of its expression in keratinocytes on systemic inflammation and skin disorders has not been determined. Comparative transcriptomic analysis of microdissected epidermis showed that A20 is down-regulated in involved epidermis, but not in dermis, of psoriasis and atopic dermatitis patients, suggesting that loss of A20 expression in keratinocytes increases the vulnerability for psoriasis/atopic dermatitis induction. We have previously shown that epidermis-specific A20 knockout mice (A20) develop mild epidermal hyperplasia but no macroscopic skin inflammation. We now show that various cytokines and chemokines are up-regulated in A20 mouse skin. A20 mice also display systemic proinflammatory changes, even in the absence of skin immune cell infiltration, and an exacerbated disease severity upon induction of experimental psoriasis, atopic dermatitis, or skin barrier disruption. Keratinocytes showed increased proinflammatory gene expression in the absence of A20 in unstimulated and IL-17A-stimulated conditions, in part resulting from uncontrolled MyD88-dependent signaling. Our findings indicate that absence of A20 in keratinocytes leads to systemic inflammation at homeostatic conditions and is sufficient to exacerbate inflammatory skin disorders associated with different immune profiles by increasing cytokine and chemokine expression.

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Section: Introductionmentioning

confidence: 99%

Keratinocyte Expression of A20/TNFAIP3 Controls Skin Inflammation Associated with Atopic Dermatitis and Psoriasis

Devos

Mogilenko

Fleury

et al. 2019

Journal of Investigative Dermatology

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“…[7] Several publications have appeared to identify the TNFAIP3 gene as a susceptibility locus for the human autoimmune pathology. [8,9,15,26–28] The TNFAIP3 gene is also regarded to closely associate with the autoimmune diseases. However, for the 2 SNPs in the present study, such an association of TNFAIP3 gene with the MG subjects was observed only in the LOMG.…”

Section: Discussionmentioning

confidence: 99%

TNFAIP3 gene rs7749323 polymorphism is associated with late onset myasthenia gravis

et al. 2017

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In this study, we intended to genotype 2 single nucleotide polymorphisms (SNPs) of tumor necrosis factor α-induced protein 3 (TNFAIP3) genes and explore an association of TNFAIP3 genetic polymorphism with the patients of myasthenia gravis (MG) at clinical level. In brief, 215 of adult MG patients were divided into subgroups according to their clinical features, age of onset, thymic pathology, and autoantibodies. Two hundred thirty-five of healthy controls were also divided into subgroups with gender- and age-matched. The allele and genotype frequencies of subgrouped patients were found to be higher than those of healthy controls. The distribution of TNFAIP3 gene rs7749323∗A allele of late onset MG (LOMG, with positive acetylcholine receptor antibody and without thymoma) subgrouped patients was also significantly higher than that of gender- and age-matched healthy controls (7.4% vs 2.4%, odds ratio [OR] = 3.27, 95% confidence interval [CI] 1.01–10.6, P = .04). Furthermore, analysis to the genotype frequencies indicates that the carriers of rs7749323∗A allele of LOMG group became more frequent than that of age-matched healthy controls (14.9% vs 4.8%, OR = 3.47, 95% CI 1.04–11.6, dominant model: P = .03). It is interesting to notice that there is no significant association between the rs7749323 and susceptibility of other MG subgroups. Therefore, it is suggested that the SNPs in the 3′ flanking region (rs7749323) of TNFAIP3 gene and the genetic variations of TNFAIP3 gene may take an important role in the susceptibility of LOMG.

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“…These studies were performed in UK 19 , Egypt 20 , India 21 , China [22][23][24][25] , Pakistani 26 , USA 27 , Sweden 28 , México 29 . In all, these studies included 11,556 psoriasis patients and 16,720 controls.…”

Section: Study Characteristicsmentioning

confidence: 99%

Association of rs610604 in TNFAIP3 and rs17728338 in TNIP1 gene polymorphisms with psoriasis susceptibility: A meta-analysis of case-control studies

Gong

Gao

Pu³

et al. 2020

Preprint

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Background: To date, the fundamental pathophysiology underlying the occurrence and progression of psoriasis are still unanswered questions. Genome-wide association surveys have revealed that TNFAIP3 and TNIP1 were key biomarkers for psoriasis. Here, we intended to conduct a survey on the association between TNFAIP3 and TNIP1 gene polymorphisms and psoriasis risk.Methods: A comprehensive search of four online databases—China National Knowledge Infrastructure (CNKI), PubMed, Embase, and Cochrane Library was undertaken up to August 25, 2019. We chose allele genetic model to deal with the original data. Newcastle–Ottawa scale (NOS) was used to evaluate the risk bias of each study. The RevMan 5.3 software was used to calculate the combined odds ratio and 95% confidence interval.Results: In total, we included 13 case-control studies consist of 13,908 psoriasis patients and 20,051 controls in this work. Our results demonstrated that rs610604 in TNFAIP3 polymorphism was significantly associated with psoriasis risk using random-effect model (G vs. T, OR = 1.19, 95 % CI: 1.09–1.31, P = 0.0002), and a significant association between rs17728338 in TNIP1 polymorphism and psoriasis vulnerability using fixed-effect model (A vs. G, OR = 1.69, 95% CI:1.58–1.80, P < 0.00001).Conclusions: Our findings indicated that rs610604 in TNFAIP3 and rs17728338 in TNIP1 gene polymorphisms were associated with psoriasis susceptibility.

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TheTNFAIP3polymorphism rs610604 both associates with the risk of psoriasis vulgaris and affects the clinical severity

Abstract: SNP rs610604 in the TNFAIP3 locus is associated with the clinical severity of PV in a Chinese Han population.

Cited by 9 publications

References 22 publications

Keratinocyte Expression of A20/TNFAIP3 Controls Skin Inflammation Associated with Atopic Dermatitis and Psoriasis

Keratinocyte Expression of A20/TNFAIP3 Controls Skin Inflammation Associated with Atopic Dermatitis and Psoriasis

TNFAIP3 gene rs7749323 polymorphism is associated with late onset myasthenia gravis

Association of rs610604 in TNFAIP3 and rs17728338 in TNIP1 gene polymorphisms with psoriasis susceptibility: A meta-analysis of case-control studies

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