SummaryBackground 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.