日本人群中SPINK5基因多态性与特应性皮炎的关联。

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

作者信息

Kato A, Fukai K, Oiso N, Hosomi N, Murakami T, Ishii M

机构信息

Department of Dermatology, Osaka City University Graduate School of Medicine, 1-4-3 Asahimachi Abenoku, Osaka 545-8585, Japan.

出版信息

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

DOI:10.1046/j.1365-2133.2003.05243.x

PMID:12752122

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.

摘要

背景

Netherton综合征（NS）是一种常染色体隐性疾病，其特征为套叠性脆发症（“竹节发”）、先天性鱼鳞病样红皮病和特应性素质。最近研究表明，NS是由编码LEKTI（一种含15个结构域的丝氨酸蛋白酶抑制剂）的SPINK5基因缺陷所致。SPINK5定位于5号染色体q31 - q32，一般认为它是一个易患特应性疾病的位点。最近有报道称，SPINK5外显子13和14中的编码多态性与特应性疾病、哮喘及特应性皮炎（AD）相关。

目的

研究这些多态性在日本人群中是否也与AD相关。

方法

我们对124例日本AD患者和110例健康对照者的SPINK5外显子13和14中的8种多态性进行了特征分析。我们检测的多态性包括IVS12 - 26C→T、IVS12 - 10A→G、1103A→G（外显子13中的Asn368Ser）、1156G→A（外显子13中的Asp386Asn）、1188T→C（外显子13中的His396His）、IVS13 - 50G→A、1258G→A（外显子14中的Glu420Lys）和IVS14 + 19G→A。