Polymorphisms in IL36G gene are associated with plaque psoriasis.

Background: Plaque psoriasis is a non-contagious skin disease in which characteristic red and flaky lesions result from a dysregulation involving both innate and adaptive immune mechanisms. Several cytokines have been implicated in these processes and lately interleukin (IL)-36 family members have become more recognised among them. Thus far, genetic studies have only investigated IL36RN gene of this family in relation to pustular psoriasis.

Transcriptional landscape of human endogenous retroviruses (HERVs) and other repetitive elements in psoriatic skin.

Human endogenous retrovirus (HERV) sequences make up at least 8% of the human genome. Transcripts originating from these loci as well as proteins encoded by them have been detected in various tissues. HERVs are believed to be implicated in autoimmune diseases, however the extent to which, has remained unclear.

Correction: Melanocytes in the Skin - Comparative Whole Transcriptome Analysis of Main Skin Cell Types.

[This corrects the article DOI: 10.1371/journal.pone.

Psoriasis-Specific RNA Isoforms Identified by RNA-Seq Analysis of 173,446 Transcripts.

Background: Several studies have been published that investigated potential links between transcriptome changes and psoriasis using microarrays and RNA-seq technologies, but no previous study has analyzed expression profile of alternatively spliced transcripts in psoriasis.

Objectives: Identification of potential alternatively spliced RNA isoforms with disease-specific expression profile.

Methods: Using our published RNA sequencing data from lesional psoriatic (LP), non-lesional psoriatic (NLP), and normal control skin (C), we analyzed the differential expression of RNA splicing variants.

Polymorphisms in Toll-like receptor genes are associated with vitiligo.

Background: The members of Toll-like receptor (TLR) family are responsible for recognizing various molecular patterns associated with pathogens. Their expression is not confined to immune cells and have been detected in skin cells such as keratinocytes and melanocytes. As part of a generated response to pathogens, TLRs are involved in inducing inflammatory mediators to combat these threats.

Association analysis of class II cytokine and receptor genes in vitiligo patients.

The loss of melanocytes in vitiligo is mainly attributed to defective autoimmune mechanisms and lately autoinflammatory mediators have become more emphasized. Among these, a number of class II cytokines and their receptors have displayed altered expression patterns in vitiligo. Thus, we selected 30 SNPs from the regions of respective genes to be genotyped in Estonian case-control sample (109 and 328 individuals, respectively).

Melanocytes in the skin--comparative whole transcriptome analysis of main skin cell types.

Melanocytes possess several functions besides a role in pigment synthesis, but detailed characteristics of the cells are still unclear. We used whole transcriptome sequencing (RNA-Seq) to assess differential gene expression of cultivated normal human melanocytes with respect to keratinocytes, fibroblasts and whole skin. The present results reveal cultivated melanocytes as highly proliferative cells with possible stem cell-like properties.

Whole Transcriptome Analysis (RNA Sequencing) of Peripheral Blood Mononuclear Cells of Vitiligo Patients.

Vitiligo is an idiopathic disorder characterized by depigmented patches on the skin due to a loss of melanocytes. The cause of melanocyte destruction is not fully understood. The aim of this study was to detect the potential pathways involved in the vitiligo pathogenesis to further understand the causes and entity of vitiligo.

Expression of class II cytokine genes in children's skin.

Immune regulation of the skin plays an important role in susceptibility and development of illnesses. The aim of our study was to localise the interleukin (IL)-10 family of cytokines, in children's skin and to determine possible age-related differences in the expression level. The mRNA expression level of IL10, IL19, IL20, IL22, IL24, IL26, IL28B, IL29 and their receptors IL10RA, IL10RB, IL20RA, IL20RB, IL22RA1, IL22RA2, IL28RA was compared in skin biopsies of children and adults and in childrens' skin cells by quantitative real-time PCR (qRT-PCR).

Copy number variations in IL22 gene are associated with Psoriasis vulgaris.

Psoriasis vulgaris (PsV) is a frequent, chronically relapsing, immune-mediated systemic disease with characteristic skin changes. IL22 is a cytokine of IL10 family, with significant proliferative effect on different cell lines. Copy number variations (CNV) have been discovered to have phenotypic consequences and are associated with various types of diseases.

Quality of life and emotional state in vitiligo in an Estonian sample: comparison with psoriasis and healthy controls.

The impact of vitiligo on quality of life is controversial. The aim of this study was to observe the impairment of quality of life and emotional state in adults with vitiligo compared with subjects with psoriasis and unaffected controls. The study group comprised 54 subjects with vitiligo, 57 with psoriasis and 57 unaffected controls.

Gene expression analysis of the corticotrophin-releasing hormone-proopiomelanocortin system in psoriasis skin biopsies.

The corticotrophin-releasing hormone-proopiomelanocortin (CRH-POMC) system in the skin coordinates pigmentation and the immune response. The aim of this study was to evaluate the regulatory role of the neuroendocrine system in the pathogenesis of psoriasis. Using quantitative real-time-PCR, mRNA expression levels of 15 genes related to the CRH-POMC system were measured in punch biopsies from lesional and non-lesional skin of patients with psoriasis and from skin of healthy control subjects.

Expression profile of genes associated with the dopamine pathway in vitiligo skin biopsies and blood sera.

Background: Dopamine has been proven to be toxic for melanocytes. In vitiligo patients the level of dopamine is increased and the functioning of several enzymes participating in the dopamine pathway is changed.

Methods: With the use of quantitative real-time polymerase chain reaction and ELISA the expression of genes connected to the dopamine pathway (PAH, PCD, TH, DDC, DBH, PNMT, GPX1, MAOA, MAOB, COMT, DRD1-DRD5, VMAT1 and VMAT2) was observed in vitiligo patients' and control subjects' skin and blood.

The mRNA expression profile of cytokines connected to the regulation of melanocyte functioning in vitiligo skin biopsy samples and peripheral blood mononuclear cells.

The expression pattern of several genes associated with different processes in melanocytes, including melanogenesis, is changed in vitiligo patients. We evaluated possible changes in the expression of interleukin (IL)-10 family cytokines (IL26, IL-28A, IL28B, IL29), their receptor subunits (IL20RB, IL22RA2, IL28RA), and genes potentially related to functioning of melanocytes (MDM1, IFNA1, IFNB1, IFNG, and ICAM1) in the case of vitiligo. We observed mRNA expression in vitiligo patients' and controls' skin and peripheral blood mononuclear cells using quantitative real-time polymerase chain reaction.

Differences between familial and sporadic cases of vitiligo.

Background: Most cases of vitiligo are sporadic, but about 10-36% of the patients have positive family history.

Objective: The aim of our study was to describe differences between familial and sporadic cases of vitiligo.

Methods: A total of 186 adult vitiligo patients were examined, in 173 of whom the level of thyroid peroxidase antibodies, gastric parietal cell antibodies (PCA), antinuclear antibodies (ANA), anti-adrenal cortex antibodies and rheumatoid factor in blood was measured.

Association analysis of genes of the IL19 cluster and their receptors in vitiligo patients.

The aim of the present study was to explore whether the genes encoding interleukin (IL) 19, IL-20, IL-24 and 2 chains of the IL-20 receptor type I (IL-20-RI), IL-20RA and IL-20RB, located on chromosomes 1q32, 6q22–23 and 3q22, respectively, are associated with vitiligo. The study involved 76 patients with vitiligo and 236 unrelated healthy volunteers. Genomic DNA was extracted from the whole blood and the frequencies of 20 single nucleotide polymorphisms were analysed by tetraprimer amplification refractory mutation system polymerase chain reaction.

Prevalence of rosacea in an Estonian working population using a standard classification.

Data about the prevalence of rosacea are scarce. The aim of this study was to evaluate the prevalence rate of rosacea according to the American National Rosacea Society Expert Committee (NRSEC) classification. A cross-sectional study of 348 subjects randomly selected from a working population >or= 30 years of age was performed.