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Genetics and Genomics of Skin Diseases I: Atopic Dermatitis and Other Skin Complex Diseases 

Genetics and Genomics of Skin Diseases I: Atopic Dermatitis and Other Skin Complex Diseases
Chapter:
Genetics and Genomics of Skin Diseases I: Atopic Dermatitis and Other Skin Complex Diseases
Author(s):

Nilesh Morar

DOI:
10.1093/med/9780199896028.003.0044
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date: 30 October 2020

Complex skin diseases of genetic and non-genetic nature are common and include eczema and psoriasis. The standard model for eczema is atopic disease (AD) mediated by IgE responses to common allergens and resulting that inflammatory course maintained by T cells. The results from the genome screens and candidate gene studies for AD suggest that the predisposition to AD rests within the skin itself. Genetic studies have identified classes of genes by candidate gene studies that are associated with atopic mechanisms (Fcε‎RIβ‎, MCC,CC chemokines), mediators of the TH2 dominated inflammatory milieu (IL4, IL13), barrier function and protease activity of the skin (FLG, SPINK5, SCCE) and innate immunity genes (CD14, TLR2, CARD15, CARD4). Genome screens have identified few regions containing candidate genes for AD and psoriasis. The advent of DNA microarrays with eQTL profiling and whole genome association studies will identify novel pathways and genes in complex skin diseases. Identifying the alleles that affect the risk of developing AD and psoriasis will help the understanding of disease aetiology and classification and their genes and proteins may serve as future therapeutic targets.

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