Kusunoki T, Okafuji I, Yoshioka T et al.SPINK5 polymorphism is associated with disease severity and food allergy in children with atopic dermatitis. J Allergy Clin Immunol 115:636-638

Department of Pediatrics, Kyoto University, Kioto, Kyōto, Japan
Journal of Allergy and Clinical Immunology (Impact Factor: 11.48). 04/2005; 115(3):636-8. DOI: 10.1016/j.jaci.2004.12.1114
Source: PubMed
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    • "Many studies have attempted to determine the genetic loci involved in allergic responses. Genes such as CD14,6,7 FOXP3,8 STAT6,9 SPINK5,10,11 interleukin (IL)-10,12 and KoreaIL-1313 have been studied in food allergy patients, but showed inconsistent results. One candidate gene that may be involved in food allergy is human leukocyte antigen (HLA), because it plays a major role in immune response regulation and is associated with predisposition to a large number of immunologically mediated diseases. "
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    ABSTRACT: We investigated whether particular HLA-DRB1 polymorphisms contribute to egg allergy development in Korean children with atopic dermatitis (AD). HLA-DRB1 alleles were determined by PCR-sequence-specific oligonucleotide (SSO) and PCR-single-strand conformation polymorphism (SSCP) methods in 185 patients with AD and 109 normal control (NC) subjects. AD patients were divided into two groups: 1) AD with egg allergy, consisting of 96 patients with egg allergies as determined by egg-specific immunoglobulin E (IgE) reactivity; and 2) AD without egg allergy, consisting of 89 patients without egg allergies. HLA-DRB1 alleles were classified into functional groups (A, De, Dr, E, Q, R, a). HLA-DRB1 phenotype and functional group frequencies in the AD, AD with egg allergy, and AD without egg allergy groups were compared with those in the NC group. The frequency of DRB1(*)08:02 was decreased in the AD with egg allergy group compared with the AD without egg allergy group (2.1% vs. 10.1%, P=0.021), and DRB1(*)15:01 was increased in the AD with egg allergy group compared with the AD without egg allergy group (22.9% vs. 11.2%, P=0.036). However, significance was lost after Bonferroni correction. HLA-DRB1(*)11:01 had a significantly higher frequency in AD patients compared with NCs (12.4% vs. 1.8%, corrected P=0.048) and was regarded as a susceptibility factor associated with AD. DRB1(*)08:03 was decreased in AD patients compared with NCs (10.8% vs. 19.3%, P=0.043). HLA-DRB1 functional group 'a', which includes DRB1(*)15:01, seemed to be associated with the development of egg allergy in AD (P=0.033), but this result was not significant after Bonferroni correction. HLA-DRB1 polymorphism is not associated with egg allergy, but HLA-DRB1(*)11:01 is associated with AD in Korean children.
    Allergy, asthma & immunology research 05/2012; 4(3):143-9. DOI:10.4168/aair.2012.4.3.143 · 2.43 Impact Factor
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    • "Loss-of-function mutations in SPINK5 (Chr 5q32) leading to accelerated desquamation, is the defect in Netherton's syndrome, a severe autosomal recessive ichthyotic condition characterized by a chronic atopic dermatitis-like condition, allergen sensitization and other atopic disorders such as asthma and allergic rhinitis (Frenk and Mevorah, 1972). Interestingly, coding polymorphisms in the SPINK5 gene have been found in association with AD and disease severity (Cork et al., 2009; Walley et al., 2001), and more recently with food allergy in children with AD (Kusunoki et al., 2005). Although Hubiche et al. (Hubiche et al., 2007) did not find an association in a French AD population, they did observe an association between the E420K polymorphism and serum IgE levels, suggesting that this barrier defect predisposes subjects to a Th2 response to environmental allergens. "
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    ABSTRACT: For at least half a century, noninvasive techniques have been available to quantify skin barrier function, and these have shown that a number of human skin conditions and disorders are associated with defects in skin permeability. In the past decade, several genes responsible for skin barrier defects observed in both monogenetic and complex polygenic disorders have been elucidated and functionally characterized. This has led to an explosion of work in the past 6 years that has identified pathways connecting epidermal barrier disruption and antigen uptake, as well as the quality and/or magnitude of the antigen-specific adaptive immune response. This review will introduce the notion that diseases arise from the dynamic crosstalk that occurs between skin barrier and the immune system using atopic dermatitis or eczema as the disease prototype. Nevertheless, the concepts put forth are highly relevant to a number of antigen-driven disorders for which skin barrier is at least transiently compromised, such as psoriasis, allergic contact dermatitis, and blistering disorders.
    Journal of Investigative Dermatology 01/2012; 132(3 Pt 2):949-63. DOI:10.1038/jid.2011.435 · 7.22 Impact Factor
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    • "122, 689–93s.) and infection via the skin (Chavanas et al., 2000; Walley et al., 2001). A E420K single nucleotide polymorphism (SNP) variant in the SPINK5 gene has shown significant association with disease severity and with the presence of food allergy in children with AD (Kusunoki et al., 2005). Other protease inhibitors with similar roles to SPINK5 are encoded by a cluster of genes on chromosome 20q12, close to a region that has been linked to AD. "
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