Association of a Single Nucleotide Polymorphism in a Late Cornified Envelope-like Proline-rich 1 Gene (LELP1) with Atopic Dermatitis

Trzeciak, Magdalena; Wesserling, Martyna; Bandurski, Tomasz; Gleń, Jolanta; Nowicki, Roman; Pawełczyk, Tadeusz

doi:10.2340/00015555-2301

Cited by 18 publications

(13 citation statements)

References 35 publications

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“…Our study has revealed decreased mRNA expression of FLG, FLG2, LOR, CRNN and SPRR3v1 concomitant with increased LELP1, RPTN, HRNR and SPRR1Av1 mRNA levels in AD compared to healthy controls, which is in line with previous findings [15][16][17][21][22][23][24]. Moreover, the majority of examined CE proteins were decreased in comparison to healthy skin, which confirms that pathological changes also occur in nonlesional AD skin.…”

Section: Discussionsupporting

confidence: 92%

“…Factors such as cornified envelope proteins that contribute to skin barrier dysfunction have been extensively studied, and their role in AD skin barrier defects has been proven [15][16][17][21][22][23][24].…”

Section: Discussionmentioning

confidence: 99%

“…In fact, patients with progressive CTCL die more frequently from infection rather than from the disease itself [14]. Changes in the expression of cornified envelope proteins in the skin were shown to impact the development and course of AD [15][16][17]. In the face of so many similarities between CTCL and AD, evaluation of expression of genes encoding the cornified envelope (CE) proteins such as the late cornified envelope-like proline-rich protein-1 (LELP-1), small proline-rich proteins (SPRR1A, SPRR1B, SPRR3), repetin (RPTN), cornulin (CRNN), hornerin (HRNR), loricrin (LOR) and filaggrin (FLG, FLG2) might provide accurate information and findings to differentiate those diseases and determine their relation to the course and development of both diseases.…”

Section: Introductionmentioning

confidence: 99%

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Expression Profiles of Genes Encoding Cornified Envelope Proteins in Atopic Dermatitis and Cutaneous T-Cell Lymphomas

et al. 2020

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The skin barrier defect in cutaneous T-cell lymphomas (CTCL) was recently confirmed to be similar to the one observed in atopic dermatitis (AD). We have examined the expression level of cornified envelope (CE) proteins in CTCL, AD and healthy skin, to search for the differences and their relation to the courses of both diseases. The levels of FLG, FLG2, RPTN, HRNR, SPRR1A, SPRR1B, SPRR3 and LELP-1 mRNA were determined by qRT-PCR, while protein levels were examined using the ELISA method in skin samples. We have found that mRNA levels of FLG, FLG2, LOR, CRNN and SPRR3v1 were decreased (p ≤ 0.04), whereas mRNA levels of RPTN, HRNR and SPRR1Av1 were increased in lesional and nonlesional AD skin compared to the healthy control group (p ≤ 0.04). The levels of FLG, FLG2, CRNN, SPRR3v1 mRNA increased (p ≤ 0.02) and RPTN, HRNR and SPRR1Av1 mRNA decreased (p ≤ 0.005) in CTCL skin compared to the lesional AD skin. There was a strong correlation between the stage of CTCL and increased SPRR1Av1 gene expression at both mRNA (R = 0.89; p ≤ 0.05) and protein levels (R = 0.94; p ≤ 0.05). FLG, FLG2, RPTN, HRNR and SPRR1A seem to play a key role in skin barrier dysfunction in CTCL and could be considered a biomarker for differential diagnosis of AD and CTCL. SPRR1Av1 transcript levels seem to be a possible marker of CTCL stage, however, further studies on a larger study group are needed to confirm our findings.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Expression Profiles of Genes Encoding Cornified Envelope Proteins in Atopic Dermatitis and Cutaneous T-Cell Lymphomas

et al. 2020

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“…Sharma et al (29) reported significant association of LELP1 rs7534334 with serum IgE levels in patients with atopic asthma (29). Our previous study showed that CC genotype and C-allele of LELP1 rs7534334 were associated with serum IgE levels, severity of AD and concomitant asthma (30). In the present investigation the authors noted an inverse correlation of LELP1 protein level in non-lesional AD skin with serum IgE level, and a positive correlation with severity of disease and pruritus, but these relationships lacked statistical significance, probably owing to the low number of cases examined.…”

Section: Discussionmentioning

confidence: 88%

Expression of Cornified Envelope Proteins in Skin and Its Relationship with Atopic Dermatitis Phenotype

Trzeciak

Sakowicz-Burkiewicz²,

Wesserling³

et al. 2017

Acta Derm Venerol

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Changes in the expression of cornified envelope (CE) proteins are thought to affect the development and course of atopic dermatitis (AD). The aim of this study was to examine the expression level of CE proteins in order to identify new molecular markers of the AD phenotype. Expression levels of CE proteins were evaluated in the skin of patients with AD (38 biopsies) and healthy subjects (26 biopsies). Levels of FLG, FLG2 and SPRR3 mRNAs and proteins were reduced in AD skin. Levels of LELP-1 and SPRR1A transcripts and proteins were significantly increased in AD skin. SPRR3v2 mRNA level in non-lesional AD skin correlated with severity of AD, and SPRR3 protein level in non-lesional AD skin correlated inversely with pruritus. FLG protein level in AD skin correlated inversely with severity of AD. These results point to SPRR3 as an important factor in AD and itch.

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“…Beside IL - 4, IL - 13, IL - 4RA, IL13RA1, IL - 13RA2 and STAT6 , newly tested genes in this category are thymic stromal lymphopoietin (TSLP), its receptors IL - 7R and TSLPR [ 14 ], and IL - 31 [ 15 ]. In the skin barrier gene category, LAMA3 [ 16 ], TMEM79 , filaggrin - 2(FLG2) [ 17 ] and Late Cornified Envelope - like Proline - rich 1 (LELP1) [ 18 ] were identified to be associated with AD. The vitamin D signaling pathway is a novel pathway that has been explored in AD.…”

Section: Resultsmentioning

confidence: 99%

Genetic and epigenetic studies of atopic dermatitis

Bin¹,

Leung²

2016

Allergy Asthma Clin Immunol

207

159

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BackgroundAtopic dermatitis (AD) is a chronic inflammatory disease caused by the complex interaction of genetic, immune and environmental factors. There have many recent discoveries involving the genetic and epigenetic studies of AD.MethodsA retrospective PubMed search was carried out from June 2009 to June 2016 using the terms “atopic dermatitis”, “association”, “eczema”, “gene”, “polymorphism”, “mutation”, “variant”, “genome wide association study”, “microarray” “gene profiling”, “RNA sequencing”, “epigenetics” and “microRNA”. A total of 132 publications in English were identified.ResultsTo elucidate the genetic factors for AD pathogenesis, candidate gene association studies, genome-wide association studies (GWAS) and transcriptomic profiling assays have been performed in this period. Epigenetic mechanisms for AD development, including genomic DNA modification and microRNA posttranscriptional regulation, have been explored. To date, candidate gene association studies indicate that filaggrin (FLG) null gene mutations are the most significant known risk factor for AD, and genes in the type 2 T helper lymphocyte (Th2) signaling pathways are the second replicated genetic risk factor for AD. GWAS studies identified 34 risk loci for AD, these loci also suggest that genes in immune responses and epidermal skin barrier functions are associated with AD. Additionally, gene profiling assays demonstrated AD is associated with decreased gene expression of epidermal differentiation complex genes and elevated Th2 and Th17 genes. Hypomethylation of TSLP and FCER1G in AD were reported; and miR-155, which target the immune suppressor CTLA-4, was found to be significantly over-expressed in infiltrating T cells in AD skin lesions.ConclusionsThe results suggest that two major biologic pathways are responsible for AD etiology: skin epithelial function and innate/adaptive immune responses. The dysfunctional epidermal barrier and immune responses reciprocally affect each other, and thereby drive development of AD.Electronic supplementary materialThe online version of this article (doi:10.1186/s13223-016-0158-5) contains supplementary material, which is available to authorized users.

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Association of a Single Nucleotide Polymorphism in a Late Cornified Envelope-like Proline-rich 1 Gene (LELP1) with Atopic Dermatitis

Cited by 18 publications

References 35 publications

Expression Profiles of Genes Encoding Cornified Envelope Proteins in Atopic Dermatitis and Cutaneous T-Cell Lymphomas

Expression Profiles of Genes Encoding Cornified Envelope Proteins in Atopic Dermatitis and Cutaneous T-Cell Lymphomas

Expression of Cornified Envelope Proteins in Skin and Its Relationship with Atopic Dermatitis Phenotype

Genetic and epigenetic studies of atopic dermatitis

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