건선과 아토피피부염의 유전학 = Genetics in Psoriasis and Atopic dermatitis

다국어 초록 (Multilingual Abstract)

Psoriasis and atopic dermatitis are common inflammatory skin diseases caused by the interplay between multiple genetic and environmental risk factors. Significantly higher incidence of the disease among relatives and higher concordance rate among monozygotic twins over dizygotic twins suggest the involvement of genetic factors.
Although knowledge of the genetic background of atopic dermatitis and psoriasis is still incomplete, major advances have been made in the past few years, particularly through genome-wide association approaches. In psoriasis, more than 400 genes and their related SNPs are known to be associated with an increased risk of developing psoriasis. These include genes involved in antigen presentation (HLA-C, ERAP1), T17 cell activation (IL23R, IL23A, IL12B), Skin barrier function, NF-kB signaling, Type 1 interferon signaling. HLA association is confidently considered the most likely causal susceptibility allele for psoriasis, but not for atopic dermatitis. Loss-of-function mutations in FLG, encoding the skin barrier protein filaggrin, remain the strongest genetic risk factor identified for atopic dermatitis, but variants influencing immune system and extracellular matrix are also important.
Shared genetic loci for both diseases have been reported. Genome-wide linkage scans have identified multiple loci linked to each disease and revealed overlap with psoriasis and atopic dermatitis susceptibility loci on chromosomes 1q21, 3q21, 17q25 and 20p12.
Knowledge of the genetic factors leading to these diseases will lead to an understanding of their complex pathophysiology

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