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zeige Details Walley, Andrew J., Chavanas, Stéphane, ... Gene polymorphism in Netherton and common atopic disease
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 29, No. 2 (2001), p. 175-178
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2001
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.
beteiligte Personen: Walley, Andrew J. , Chavanas, Stéphane , Moffatt, Miriam F. , Esnouf, Robert M. , Ubhi, Baljinder , Lawrence, Robert , Wong, Kenny , Abecasis, Gonçalo R , Jones, E. Yvonne , Harper, John I. , Hovnanian, Alain , Cookson, William O.C.M.
Format: Elektronisch
Erschienen: 2001.
Serie: Nature Archives 1869 - 2007 [Dig. Serial]
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URL: http://dx.doi.org/10.1038/ng728

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