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

Kato, Atsushi; Fukai, Kazuyoshi; Oiso, Naoki; Hosomi, Naoko; Murakami, Tomoko; Ishii, Masamitsu

doi:10.1046/j.1365-2133.2003.05243.x

Cited by 181 publications

(138 citation statements)

References 23 publications

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“…Interestingly, an insertion in the 3′ untranslated region of the kallikrein 7 gene (KLK7) encoding SCCE 175 176 177 178 179 180 181 182 183 184 185 186 187 188 189 190 191 192 193 194 195 196 197 198 199 35 has been reported to be associated with eczema. Early genome wide linkage analysis of eczema family studies suggested a potential locus on 5q31 and, after identification of 6 common polymorphisms in SPINK5, the variant Lys420Ser, was associated with eczema in a cohort of British children, 36 this association has been replicated in 2 small Japanese studies, 37,38 but other studies have failed to replicate this association. {REFS HERE} However, whereas FLG has been firmly established as a major gene for eczema, the reported effects of KLK7 and SPINK5 variants are rather weak and so far lack robust confirmation in replication cohort studies.…”

Section: Resultsmentioning

confidence: 99%

Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk

Weidinger

Baurecht

Wagenpfeil

et al. 2008

Journal of Allergy and Clinical Immunology

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Section: Resultsmentioning

confidence: 99%

Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk

Weidinger

Baurecht

Wagenpfeil

et al. 2008

Journal of Allergy and Clinical Immunology

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“…A Glu420Lys polymorphism variant in the SPINK5 gene, which encodes serine proteinase inhibitor, Kazal type 5, has shown significant association with AD in two independent cohorts (22). This gene is expressed in the outermost layers of the skin and has been implicated in Netherton disease, an autosomal recessive disorder characterized by ichthyosis and atopy.…”

Section: Figurementioning

confidence: 99%

New insights into atopic dermatitis

Leung¹,

Boguniewicz²,

Howell³

et al. 2004

J. Clin. Invest.

488

574

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Atopic dermatitis is a chronic inflammatory skin disease associated with cutaneous hyperreactivity to environmental triggers and is often the first step in the atopic march that results in asthma and allergic rhinitis. The clinical phenotype that characterizes atopic dermatitis is the product of interactions between susceptibility genes, the environment, defective skin barrier function, and immunologic responses. This review summarizes recent progress in our understanding of the pathophysiology of atopic dermatitis and the implications for new management strategies. Historical perspectiveAtopic dermatitis (AD) is a chronic inflammatory skin disease associated with cutaneous hyperreactivity to environmental triggers that are innocuous to normal nonatopic individuals (1). Although written descriptions of AD date back to the early 1800s, an objective laboratory test does not exist for AD. The diagnosis of AD is based on the following constellation of clinical findings: pruritus, facial and extensor eczema in infants and children, flexural eczema in adults, and chronicity of the dermatitis.AD usually presents during early infancy and childhood, but it can persist into or start in adulthood (2). The lifetime prevalence of AD is 10-20% in children and 1-3% in adults. Its prevalence has increased two-to threefold during the past three decades in industrialized countries but remains much lower in countries with predominantly rural or agricultural areas. Wide variations in prevalence have been observed within countries inhabited by groups with similar genetic backgrounds, suggesting that environmental factors play a critical role in determining expression of AD.A precise understanding of the mechanisms underlying AD is critical for development of more effective management strategies (Table 1). Various studies indicate that AD has a complex etiology, with activation of multiple immunologic and inflammatory pathways (3). The clinical phenotype that characterizes AD is the product of complex interactions among susceptibility genes, the host's environment, defects in skin barrier function, and systemic and local immunologic responses. An understanding of the relative role of these factors in the pathogenesis of AD has been made possible by a variety of approaches, including the analysis of cellular and cytokine gene expression in AD skin lesions in humans as well as gene knockout and transgenic mouse models of candidate genes in AD. The current review will summarize progress in our understanding of the pathophysiology of AD and implications for therapy. Atopy as a systemic diseaseSeveral observations suggest that AD is the cutaneous manifestation of a systemic disorder that also gives rise to asthma, food allergy, and allergic rhinitis (1, 2). These conditions are all characterized by elevated serum IgE levels and peripheral eosinophilia. AD is often the initial step in the so-called "atopic march," which leads to asthma and allergic rhinitis in the majority of afflicted patients. In experimental models of AD, the induction...

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“…A)) of the SPINK5 gene and AD in a Japanese population and found a positive association of 7 SPINK5 SNPs (except for 1156G > A) with AD. (64,65) In addition a study of Six SNPs rs17718511, rs17860502, KN0001820, rs60978485, rs17718737, and rs1422985 in the SPINK5 gene provides evidence for a significant interaction between the SPINK5 gene that may contribute to AD susceptibility among Korean. (68) …”

Section: -Spink5 and Lekti Genementioning

confidence: 99%

“…(62) Otherwise, a recent study was suggested that the E420K LEKTI variant is a risk factor for AD through an increase in the TSLP expression. (63) Subsequently, recent studies found a significant association between (1258G > A) SPINK5 polymorphism and AD in Japanese, (64,65) and in German. (66) In individuals affected by AD, a significant maternal over-transmission of the risk allele to their children was demonstrated Walley et al (67) Folster-Holset al, studied 8 SNPs in different regions of the SPINK5 gene, including 4 non-synonymous SNPs leading to an amino acid change (Asp106Asn (G316A), Asn368Ser (1103A > G) and Asp386Asn (1156G > A), and, Gly463Gly (A1389G), Val553Val (C1659T), Leu756Leu (C2358T) and Gly804Gly C2412T) and Glu 825Asp (C2475T)).…”

Section: -Spink5 and Lekti Genementioning

confidence: 99%

Molecular Genetic of Atopic Dermatitis : An Update

Al‐Shobaili

Ahmed

Alnomair

et al. 2016

IJHS

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Atopic dermatitis (AD) is a chronic multifactorial inflammatory skin disease. The pathogenesis of AD remains unclear, but the disease results from dysfunctions of skin barrier and immune response, where both genetic and environmental factors play a key role. Recent studies demonstrate the substantial evidences that show a strong genetic association with AD. As for example, AD patients have a positive family history and have a concordance rate in twins. Moreover, several candidate genes have now been suspected that play a central role in the genetic background of AD. In last decade advanced procedures similar to genome-wide association (GWA) and single nucleotide polymorphism (SNP) have been applied on different population and now it has been clarified that AD is significantly associated with genes of innate/adaptive immune systems, human leukocyte antigens (HLA), cytokines, chemokines, drug-metabolizing genes or various other genes. In this review, we will highlight the recent advancements in the molecular genetics of AD, especially on possible functional relevance of genetic variants discovered to date.

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

Abstract: This study confirms the previous suggestion of an association between SPINK5 and AD.

Cited by 181 publications

References 23 publications

Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk

Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk

New insights into atopic dermatitis

Molecular Genetic of Atopic Dermatitis : An Update

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