A Kato1, K Fukai, N Oiso, N Hosomi, T Murakami, M Ishii. 1. Department of Dermatology, Osaka City University Graduate School of Medicine, 1-4-3 Asahimachi Abenoku, Osaka 545-8585, Japan.
Abstract
BACKGROUND: Netherton's syndrome (NS) is an autosomal recessive disorder characterized by trichorrhexis invaginata ('bamboo hair'), congenital ichthyosiform erythroderma and an atopic diathesis. NS has recently been shown to be due to a defect in the SPINK5 gene, encoding LEKTI, a 15-domain serine protease inhibitor. SPINK5 maps to chromosome 5q31-q32, and has been suggested to be a locus predisposing to atopy in general. Recently, coding polymorphisms in SPINK5 exons 13 and 14 have been reported to be associated with atopy, asthma and atopic dermatitis (AD). OBJECTIVES: To examine whether these polymorphisms are also associated with AD in Japan. METHODS: We characterized eight polymorphisms in SPINK5 exons 13 and 14 in 124 Japanese patients with AD and 110 healthy controls. The polymorphisms we examined were IVS12-26C-->T, IVS12-10A-->G, 1103A-->G (Asn368Ser, in exon 13), 1156G-->A (Asp386Asn, in exon 13), 1188T-->C (His396His, in exon 13), IVS13-50G-->A, 1258G-->A (Glu420Lys, in exon 14) and IVS14+19G-->A. RESULTS: We found significant associations between seven of these polymorphisms and AD in Japanese patients. CONCLUSIONS: This study confirms the previous suggestion of an association between SPINK5 and AD.
BACKGROUND:Netherton's syndrome (NS) is an autosomal recessive disorder characterized by trichorrhexis invaginata ('bamboo hair'), congenital ichthyosiform erythroderma and an atopic diathesis. NS has recently been shown to be due to a defect in the SPINK5 gene, encoding LEKTI, a 15-domain serine protease inhibitor. SPINK5 maps to chromosome 5q31-q32, and has been suggested to be a locus predisposing to atopy in general. Recently, coding polymorphisms in SPINK5 exons 13 and 14 have been reported to be associated with atopy, asthma and atopic dermatitis (AD). OBJECTIVES: To examine whether these polymorphisms are also associated with AD in Japan. METHODS: We characterized eight polymorphisms in SPINK5 exons 13 and 14 in 124 Japanese patients with AD and 110 healthy controls. The polymorphisms we examined were IVS12-26C-->T, IVS12-10A-->G, 1103A-->G (Asn368Ser, in exon 13), 1156G-->A (Asp386Asn, in exon 13), 1188T-->C (His396His, in exon 13), IVS13-50G-->A, 1258G-->A (Glu420Lys, in exon 14) and IVS14+19G-->A. RESULTS: We found significant associations between seven of these polymorphisms and AD in Japanese patients. CONCLUSIONS: This study confirms the previous suggestion of an association between SPINK5 and AD.
Authors: Bradley T Webb; Edwin van den Oord; Anthony Akkari; Steve Wilton; Tina Ly; Rachael Duff; Kathleen C Barnes; Karin Carlsen; Jorrit Gerritsen; Warren Lenney; Michael Silverman; Peter Sly; John Sundy; John Tsanakas; Andrea von Berg; Moira Whyte; Malcolm Blumenthal; Jorgen Vestbo; Lefkos Middleton; Peter J Helms; Wayne H Anderson; Sreekumar G Pillai Journal: Hum Genet Date: 2006-11-14 Impact factor: 4.132