Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population

Br J Dermatol. 2003 Apr;148(4):665-9. doi: 10.1046/j.1365-2133.2003.05243.x.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Carrier Proteins*
  • Child
  • Dermatitis, Atopic / genetics*
  • Dermatitis, Atopic / immunology
  • Exons
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Immunoglobulin E / blood
  • Japan
  • Middle Aged
  • Polymorphism, Genetic*
  • Proteinase Inhibitory Proteins, Secretory
  • Serine Peptidase Inhibitor Kazal-Type 5
  • Serine Proteinase Inhibitors / genetics*
  • Skin Diseases, Genetic / genetics


  • Carrier Proteins
  • Proteinase Inhibitory Proteins, Secretory
  • SPINK5 protein, human
  • Serine Peptidase Inhibitor Kazal-Type 5
  • Serine Proteinase Inhibitors
  • Immunoglobulin E