Salas-Alanis JC, López-Lozano HE, Mcgrath J

Language: Spanish
References: 14
Page: 101-104
PDF size: 136.52 Kb.

ABSTRACT

Determining the precise genetic factors underlying complex trait diseases is difficult. Dissecting out susceptibility genes typically involves detailed mapping or population studies with analysis of large numbers of affected and unaffected individuals. To date, however, researchers have gained only limited insight into common multi-factorial diseases through such approaches. By contrast, identifying causative single genes in Mendelian disorders through genetic linkage, single nucleotide polymorphism or candidate gene screening has been very rewarding with identification of the genetic basis of over 300 autosomal recessive, dominant or X-linked disorders that have a skin phenotype. Recently, however, work on single gene disorders has also been able to provide specific clues to predisposing primary risk factors relevant to common complex diseases. This review article documents recent progress in understanding the genetic risk factors in the most common inflammatory dermatosis, atopic dermatitis, in which loss-of-function mutations in the gene encoding the skin barrier protein filaggrin are now known to be a major risk factor for both atopic dermatitis and atopic dermatitis associated with asthma.

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