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- Title
Gene polymorphism in Netherton and common atopic disease.
- Authors
Walley, A J; Chavanas, S; Moffatt, M F; Esnouf, R M; Ubhi, B; Lawrence, R; Wong, K; Abecasis, G R; Jones, E Y; Harper, J I; Hovnanian, A; Cookson, W O
- Abstract
Atopic dermatitis (AD) and asthma are characterized by IgE-mediated atopic (allergic) responses to common proteins (allergens), many of which are proteinases. Loci influencing atopy have been localized to a number of chromosomal regions, including the chromosome 5q31 cytokine cluster. Netherton disease is a rare recessive skin disorder in which atopy is a universal accompaniment. The gene underlying Netherton disease (SPINK5) encodes a 15-domain serine proteinase inhibitor (LEKTI) which is expressed in epithelial and mucosal surfaces and in the thymus. We have identified six coding polymorphisms in SPINK5 (Table 1) and found that a Glu420-->Lys variant shows significant association with atopy and AD in two independent panels of families. Our results implicate a previously unrecognized pathway for the development of common allergic illnesses.
- Publication
Nature genetics, 2001, Vol 29, Issue 2, p175
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng728