Skin barrier and contact allergy: Genetic risk factor analyses

Katrine Ross-Hansen


Background Contact allergy is frequent in the general population and arises from prolonged or repeated skin contact with chemical substances. The environmental risk factor is obvious, yet some studies report on associations between genetic variance and an increased risk of developing contact allergy.
Objectives To evaluate the effect of specific gene polymorphisms on the risk of developing contact allergy by a candidate gene approach. These included polymorphisms in the glutathione S-transferase genes (GSTM1, -T1 and -P1 variants), the claudin-1 gene (CLDN1), and the filaggrin gene (FLG) in particular.
Methods Epidemiological genetic association studies were performed on a general Danish population. Participants were patch tested, answered a questionnaire on general health and were genotyped for GST, CLDN1 and FLG polymorphisms. Filaggrin’s nickel binding potential was evaluated biochemically by extracting epidermal proteins from human surgical waste samples and stratum corneum scrapings followed by binding studies using immobilized metal affinity chromatography.
Results As suggested by Kaplan-Meier event history analyses, FLG null mutations lowered the age of onset of nickel dermatitis, when ear piercing status was regarded. Nickel patch test readings indicated that proportionally more mutation carriers than wild types had stronger reactions. Epidermally derived filaggrin binds nickel. The GST gene polymorphisms did not associate with contact allergy among adult Danes. The CLDN1 polymorphisms rs9290927 minor allele, rs893051 minor allele and rs17501010 major allele were associated with increased risk of different contact allergies.
Conclusions Epidemiological and biochemical data suggest that CLDN1 and FLG gene polymorphisms predispose to contact allergy.
Antal sider82
ISBN (Trykt)978-87-92613-31-8
StatusUdgivet - apr. 2013


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