Nature Genetics29, 175 - 178 (2001)
Published online: 4 September 2001; | doi:10.1038/ng728
Gene polymorphism in Netherton and common atopic disease
Andrew J. Walley1, Stéphane Chavanas1, Miriam F. Moffatt1, Robert M. Esnouf1, Baljinder Ubhi1, Robert Lawrence1, Kenny Wong1, Gonçalo R Abecasis1, E. Yvonne Jones1, John I. Harper2, Alain Hovnanian1
& William O.C.M. Cookson1
1
Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN, UK.
2
Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, London, UK.
Correspondence should be addressed to William O.C.M. Cookson wocc@well.ox.ac.uk
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 regions1, including the chromosome 5q31 cytokine cluster2,
3,
4. Netherton disease is a rare recessive skin disorder in which atopy is a universal accompaniment5. The gene underlying Netherton disease (SPINK5)6 encodes a 15-domain serine proteinase inhibitor (LEKTI) which is expressed in epithelial and mucosal surfaces and in the thymus6,
7. We have identified six coding polymorphisms in SPINK5 (Table 1) and found that a Glu420Lys 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.
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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.
