Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population
Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population
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DOI：
10.1046/j.1365-2133.2003.05243.x
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发表时间：
2003-04-01
影响因子：
10.3
通讯作者：
Ishii, M
中科院分区：
文献类型：
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作者：
Kato, A;Fukai, K;Ishii, M
内瑟顿综合征（NS）是一种常染色体隐性遗传病，其特征为内伏毛癣（“竹毛”）、先天性鱼鳞样红皮病和特应性特质。NS最近被证明是由于SPINK5基因的缺陷，该基因编码LEKTI，一种15域丝氨酸蛋白酶抑制剂。SPINK5定位于染色体5q31-q32，一般认为是一个易发生特应性的位点。最近，SPINK5外显子13和14的编码多态性被报道与特应性、哮喘和特应性皮炎（AD）有关。目的研究这些多态性是否也与日本的阿尔茨海默病有关。方法对124名日本AD患者和110名健康对照者的SPINK5外显子13和14进行8个多态性分析。我们检测的多态性为IVS12-26C—>t、IVS12-10A—>g、1103A—>g （Asn368Ser，位于第13外显子）、1156G—>a （Asp386Asn，位于第13外显子）、1188T—>c （His396His，位于第13外显子）、IVS13-50G—>a、1258G—>a （Glu420Lys，位于第14外显子）和IVS14+19G—>a。结果在日本患者中，我们发现其中7种多态性与AD存在显著关联。本研究证实了先前关于SPINK5与AD之间存在关联的观点。
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.