Turkderm-Turk Arch Dermatol Venereol. 2021; 55(2): 56-60 | DOI: 10.4274/turkderm.galenos.2020.23326

The role of epidermal differentiation gene complex studies in atopic dermatitis

Özge Gündüz¹, Deepak Modi¹, Raquel Duarte^2
1University of the Witwatersrand Faculty of Health Sciences, Department of Internal Medicine, Division of Dermatology, Johannesburg, South Africa
²University of the Witwatersrand Faculty of Health Sciences, Department of Internal Medicine, Internal Medicine Research Laboratory, Johannesburg, South Africa

Atopic dermatitis (AD) is a chronic skin disease affecting mainly children with an increasing prevalence worldwide. AD is a complex trait resulting from genetic predisposition, skin barrier dysfunction, immune dysregulation, and environmental factors. The major risk factors for AD are a family history of atopy (eczema, asthma, or allergic rhinitis) and the loss-of-function mutations in the filaggrin (FLG) gene. This review highlights the role of the genetic abnormalities identified in AD, from the susceptibility loci in genome-wide associations to epigenetic studies.

Keywords: Atopic dermatitis, genetics, epidermal differentiation gene complex, filaggrin

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Atopik dermatitte epidermal farklýlaþma gen kompleksi çalýþmalarýnýn rolü

Özge Gündüz¹, Deepak Modi¹, Raquel Duarte^2
1University of the Witwatersrand Faculty of Health Sciences, Department of Internal Medicine, Division of Dermatology, Johannesburg, South Africa
²University of the Witwatersrand Faculty of Health Sciences, Department of Internal Medicine, Internal Medicine Research Laboratory, Johannesburg, South Africa

Atopik dermatit (AD), dünya çapýnda yaygýnlýðý artmýþ çocuklarý etkileyen kronik bir deri hastalýðýdýr. AD, genetik yatkýnlýk, deri bariyeri iþlev bozukluðu, immün disregülasyon ve çevresel faktörlerin etkileþiminden kaynaklanan karmaþýk bir özelliktir. AD için baþlýca risk faktörleri, ailede atopi öyküsü (egzama, astým veya alerjik rinit) ve filagrin (FLG) genindeki fonksiyon kaybý mutasyonlarýdýr. Bu derleme, genom çapýnda iliþkilendirme çalýþmalarýndaki duyarlýlýk lokuslarýndan epigenetik çalýþmalara kadar tanýmlanan genetik anormalliklerin AD’deki rolünü vurgulamaktadýr.

Anahtar Kelimeler: Atopik dermatit, genetik, epidermal farklýlaþma gen kompleksi, filaggrin

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