Format

Send to:

Choose Destination
See comment in PubMed Commons below
Br J Dermatol. 2003 Apr;148(4):665-9.

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

Author information

  • 1Department 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.

PMID:
12752122
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Blackwell Publishing
    Loading ...
    Write to the Help Desk