Genetic Variants in Epidermal Differentiation Complex Genes as Predictive Biomarkers for Atopic Eczema, Allergic Sensitization, and Eczema-Associated Asthma in a 6-Year Follow-Up Case–Control Study in Children

Dębińska, Anna; Danielewicz, Hanna; Sozańska, Barbara

doi:10.3390/jcm11164865

Cited by 4 publications

(3 citation statements)

References 97 publications

(173 reference statements)

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“…In particular, candidate-gene studies have identified the genetic factors responsible for the impaired skin barrier, which is influenced by polymorphisms located within the Epidermal Differentiation Complex cluster (EDC). This cluster consists of more than fifty genes that encode proteins involved in the final differentiation and cornification of keratinocytes within the 1q21 chromosomal region [ 12 , 13 ]. Furthermore, the inflammatory aspect of AD has been associated with cytokines located within the Th2 cluster on the 5q31.1 locus [ 14 ].…”

Section: Genetics Of Atopic Dermatitismentioning

confidence: 99%

Intrinsic Effects of Exposome in Atopic Dermatitis: Genomics, Epigenomics and Regulatory Layers

Grafanaki

Antonatos

Maniatis

et al. 2023

JCM

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Atopic dermatitis (AD) or atopic eczema is an increasingly manifested inflammatory skin disorder of complex etiology which is modulated by both extrinsic and intrinsic factors. The exposome includes a person’s lifetime exposures and their effects. We recently reviewed the extrinsic exposome’s environmental risk factors that contribute to AD. The periods of pregnancy, infancy, and teenage years are recognized as crucial stages in the formation of AD, where the exposome leads to enduring impacts on the immune system. However, research is now focusing on the interactions between intrinsic pathways that are modulated by the extrinsic exposome, including genetic variation, epigenetic modifications, and signals, such as diet, stress, and microbiome interactions. As a result, immune dysregulation, barrier dysfunction, hormonal fluctuations, and skin microbiome dysbiosis are important factors contributing to AD development, and their in-depth understanding is crucial not only for AD treatment but also for similar inflammatory disorders.

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Section: Genetics Of Atopic Dermatitismentioning

confidence: 99%

Intrinsic Effects of Exposome in Atopic Dermatitis: Genomics, Epigenomics and Regulatory Layers

Grafanaki

Antonatos

Maniatis

et al. 2023

JCM

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“…In particular, 53 out of 99 studies (54%) examined participants of European ancestry (Table 1) and 46 (46%) of Asian ancestry (Table 2). Studies conducted in Euro-pean participants focused on the FLG (n = 27, 27%), TLR2 [41][42][43][44][45][46][47] (n = 7, 7%), IL10 [48][49][50][51][52][53][54] (n = 7, 7%), 11q13.5 [25,40,[55][56][57] (n = 5, 5%), IL13 [19,49,52,58] (n = 4, 4%), IL4 [49][50][51] (n = 3, 3%), HRNR [25,56,59] (n = 3, 3%) and IL6 [50,51,53] (n = 3, 3%) loci, while evidence for possible association for relevant genes were examined by a total of two studies [19,42,44,50,51,53,54,[60][61][62][63][64][65]…”

Section: Studies Included In Our Analysismentioning

confidence: 99%

Candidate Gene Association Studies in Atopic Dermatitis in Participants of European and Asian Ancestry: A Systematic Review and Meta-Analysis

Pontikas,

Antonatos,

Evangelou

et al. 2023

Genes

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Atopic dermatitis (AD) has been extensively investigated for genetic associations utilizing both candidate gene approaches and genome-wide scans. Here, we comprehensively evaluated the available literature to determine the association of candidate genes in AD to gain additional insight into the etiopathogenesis of the disease. We systematically screened all studies that explored the association between polymorphisms and AD risks in cases of European and Asian ancestry and synthesized the available evidence through a random-effects meta-analysis. We identified 99 studies that met our inclusion/exclusion criteria that examined 17 candidate loci in Europeans and 14 candidate genes in Asians. We confirmed the significant associations between FLG variants in both European and Asian populations and AD risk, while synthesis of the available data revealed novel loci mapped to IL18 and TGFB1 genes in Europeans and IL12RB1 and MIF in Asians that have not yet been identified by genome-wide association studies. Our findings provide comprehensive evidence for AD risk loci in cases of both European and Asian ancestries, validating previous associations as well as revealing novel loci that could imply previously unexplored biological pathways.

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“…Although the function remains unknown, it is hypothesized that HRNR is associated with corni cation [5,6]. A genetic variant (rs87776) in HRNR was identi ed in the GWAS of AD as an independent susceptibility locus for AD [7,8], and Debinska et al demonstrated that HRNR rs87776[C] could contribute to the pathogenesis of AD [9]. Pallerin et al reported that the expression of HRNR was signi cantly decreased in the skin lesions of AD patients [10].…”

Section: Introductionmentioning

confidence: 99%

Expression of hornerin in skin lesions of atopic dermatitis and skin diseases

Makino

Mizawa

Takemoto

et al. 2023

Preprint

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Cornification is an essential process that confers the skin barrier function. Among the proteins associated with cornification, filaggrin (FLG) plays an important role, and mutations in the FLG gene were shown to be an important predisposing factor for atopic dermatitis (AD). We previously identified an FLG-like protein, hornerin (HRNR). The exact function remains unknown; however, it is hypothesized that HRNR is associated with cornification. Recently, there have been several reports regarding a relationship between HRNR and the pathogenesis of AD. In the present study, we examined the HRNR expression in the skin lesions of 7 unrelated AD patients to clarify the role of HRNR in the pathogenesis of AD. Three of 7 AD specimens were obtained from erythematous lesions, suggesting an acute phase; the others were obtained from lichenified or pruriginous eruptions, suggesting a chronic phase. HRNR was detected in chronic AD lesions, although no signals of HRNR were observed in acute AD lesions. HRNR was detected in the cytokeratin6-expressing area, while Ki67-positive keratinocytes were more abundant in HRNR-positive epidermis. These findings suggest that the expression of HRNR may be associated with the hyperproliferation of epidermis in chronic AD lesions. We next examined the HRNR expression in skin diseases associated with hyperkeratosis, including ichthyosis vulgaris, epidermolytic ichthyosis, Darier’s disease, lichen planus, pustulosis et plantaris, actinic keratosis, and seborrheic keratosis. The expression of HRNR was decreased in ichthyosis vulgaris and was increased in lichen planus and pustulosis et plantaris, in parallel with the expression of FLG. In contrast, HRNR signals were irregularly observed in different cells from those expressing FLG in epidermolytic ichthyosis or actinic keratosis. The abnormal epidermal differentiation in these diseases may affect the unique expression of HRNR. Accordingly, HRNR may play an overlapping role with FLG in cornification; however, this unique expression pattern of HRNR in some diseases supports that HRNR may have a distinct role in the molecular processes of cornification.

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Genetic Variants in Epidermal Differentiation Complex Genes as Predictive Biomarkers for Atopic Eczema, Allergic Sensitization, and Eczema-Associated Asthma in a 6-Year Follow-Up Case–Control Study in Children

Cited by 4 publications

References 97 publications

Intrinsic Effects of Exposome in Atopic Dermatitis: Genomics, Epigenomics and Regulatory Layers

Intrinsic Effects of Exposome in Atopic Dermatitis: Genomics, Epigenomics and Regulatory Layers

Candidate Gene Association Studies in Atopic Dermatitis in Participants of European and Asian Ancestry: A Systematic Review and Meta-Analysis

Expression of hornerin in skin lesions of atopic dermatitis and skin diseases

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