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Angiogenesis and Roles of Adhesion Molecules in Psoriatic Disease
Published in Siba P. Raychaudhuri, Smriti K. Raychaudhuri, Debasis Bagchi, Psoriasis and Psoriatic Arthritis, 2017
Asmita Hazra, Saptarshi Mandal
Many of the S100 protein genes are clustered in the epidermal differentiation complex in human chromosome 1q21, which includes the PSORS4 locus, and 13 S100 proteins (S100A2, S100A3, S100A4, S100A6, S100A7, S100A8, S100A9, S100A10, S100A11, S100A12, S100A15, S100B, and S100P) are expressed in normal and/or diseased epidermis (Eckert et al. 2004). Of these, the following are overexpressed in psoriasis; some are regulated under the aryl hydrocarbon receptor nuclear translocator (Arnt)/Hif1b and are known to have angiogenic properties:
Ichthyosis Vulgaris
Published in Donald Rudikoff, Steven R. Cohen, Noah Scheinfeld, Atopic Dermatitis and Eczematous Disorders, 2014
Genetic linkage has been established between IV and markers in the epidermal differentiation complex (EDC) on chromosome 1q21 (Compton et al. 2002). The EDC is a cluster of genes that encode for several epidermal structural proteins including filaggrin. Several mutations (2282del4, R501X, 3702delG) in the FLG gene have been identified as a cause of IV in European populations. Heterozygotes exhibit a mild phenotype with incomplete penetrance, whereas homozygotes with such mutations have severe ichthyosis, suggesting a semi-dominant inheritance pattern (Sandilands et al. 2006, Smith et al. 2006).
Genetics
Published in M. Alan Menter, Caitriona Ryan, Psoriasis, 2017
Although the Ps associations provide insights into immune cell activation, they do not explain why Ps affects the skin. Hence, the limited number of associations with variants within or near genes encoding epidermal components is important in attempting to explain the skin involvement. Linkage of Ps to a region within the epidermal differentiation complex (EDC) was initially described in Italian families.66 This locus was termed PSORS4. Explanation for this linkage observation was provided by the identification of a common deletion involving the late cornified envelope 3B (LCE3B) and LCE3C genes that were associated with Ps. LCE genes reside within the EDC on chromosome 1q21.17 This locus is comprised of tandemly arrayed gene families encoding proteins involved in skin cell differentiation. LCE genes encode stratum corneum proteins and encompass six different groups. LCE2 protein is restricted to the uppermost granular layer and the stratum corneum. Members of groups 1, 2, 5, and 6 are involved in normal skin barrier function. Genes of the LCE3 group are upregulated in involved psoriatic skin and are induced after superficial injury of normal skin. Conversely, the expression of members of other LCE groups is downregulated under these conditions.67 Thus, it is possible that the deletion of LCE3B and LCEC is sufficient to increase Ps risk by disrupting wound healing. However, an epidermal-specific enhancer has been identified in this deleted region68 and it is possible that deletion of such a critical regulatory element for epidermal regeneration is the causative risk factor.
Tissue lipocalin-2 in psoriasis: is it a marker of metabolic disturbance or a possible marker of therapeutic efficacy after narrow band ultraviolet B?
Published in Journal of Dermatological Treatment, 2020
Rania Abdel Hay, Nesrine Samir, Marwa Safwat, Laila Rashed, Mohamed Soliman
LCN2 has a suggested role in the etiopathogenesis of psoriasis. Both lesional and non-lesional levels of LCN2 were significantly higher in patients rather than controls. Moreover, lesional levels were significantly higher than non-lesional ones. This was in agreement with previous studies (14,15) that reported higher tissue LCN2 levels. The increased LCN2 expression was restricted to the involved skin only, and there was no detectable signal in the uninvolved skin of psoriatic patients in their results. They documented LCN2 expression was confined to the areas of parakeratotic epidermis. These foci expressing LCN2 were consistently devoid of filaggrin immunoreactivity reflecting the incomplete terminal differentiation in these areas suggesting that LCN2 expression may be related to dysregulated keratinocyte differentiation. This signified the burden weighed by disturbed differentiation on tissue LCN2 expression rather than components of the epidermal differentiation complex (14).
Systems analysis of barrier molecule and ARNT-related gene expression regulation in melanoma
Published in OncoImmunology, 2019
Katie M. Leick, Joseph M. Obeid, Stefan Bekiranov, Craig L. Slingluff
The most upregulated of these BMGs is FLG,10 which is encoded on chromosomal locus 1q21.3. Interestingly, 1q21.3 is a reported susceptibility locus in melanoma, based on single nucleotide polymorphisms in this region.11 Other genes on 1q21.3 code for proteins involved in terminal differentiation of keratinocytes and represent the epidermal differentiation complex (EDC).12–14 These are all co-expressed in keratinocytes, as are FLG and the other BMGs; however, we are not aware of any studies that have assessed whether they are concordantly expressed in melanomas. Interestingly, genomic analysis of melanomas by TCGA investigators defined 3 melanoma subgroups, one of which was a “keratin” subtype; however, that analysis did not address details of the EDC or the BMGs.4 We hypothesized that EDC genes would be concordantly upregulated with BMGs in a subset of human melanomas, and that they would thus similarly be inversely associated with lack of Th1 immune signatures in those tumors.
Epithelial physical barrier defects in chronic rhinosinusitis
Published in Expert Review of Clinical Immunology, 2019
Jian Jiao, Chengshuo Wang, Luo Zhang
The S100 proteins comprise a multigene family of more than 20 low molecular proteins that serve diverse functions, including cell differentiation and transformation, barrier function, and direct antimicrobial action [80,81]. The majority of the S100 protein genes are encoded in the epidermal differentiation complex located on chromosome 1q21, among which S100A7 and S100A8/A9 play an important role in epithelial barrier function by providing epithelial repair and antimicrobial activity [82]. Expression of S100A7 and S100A8/9 was reported to be significantly decreased in CRSsNP and CRSwNP patients, when compared to healthy controls [74,82,83]. This may lead to diminished innate immune response and barrier function, thus contributing to CRS pathogenesis.