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ID 56073
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Morizane, Shin Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Ouchida, Mamoru Department of Molecular Oncology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Sunagawa, Ko Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Sugimoto, Saeko Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Kobashi, Mina Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Sugihara, Satoru Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Nomura, Hayato Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Tsuji, Kazuhide Nishigawara Dermatology Clinic
Sato, Atsushi Sato Dermatology Clinic
Miura, Yoshihiro Miura Dermatology Clinic
Hattori, Hiroaki Hattori Dermatology and Allergy Clinic
Tada, Kotaro Tada Dermatology Clinic
Huh, Wook-Kang Dr. Huh's Dermatology Clinic
Seno, Akemi Department of Dermatology, Mitoyo General Hospital
Iwatsuki, Keiji Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Abstract
Lympho-epithelial Kazal-type-related inhibitor (LEKTI) is a large multidomain serine protease inhibitor that is expressed in epidermal keratinocytes. Nonsense mutations of the SPINK5 gene, which codes for LEKTI, cause Netherton syndrome, which is characterized by hair abnormality, ichthyosis, and atopy. A single nucleotide polymorphism (SNP) of SPINK5, p.K420E, is reported to be associated with the pathogenesis of atopic dermatitis (AD). We studied all 34 exons of the SPINK5 gene in Japanese 57 AD patients and 50 normal healthy controls. We detected nine nonsynonymous variants, including p.K420E; these variants had already been registered in the SNP database. Among them, p.R654H (n=1) was found as a heterozygous mutation in the AD patients, but not in the control. No new mutation was detected. We next compared the data of the AD patients with data from the Human Genetic Variation Database provided by Kyoto University; a significant difference was found in the frequency of the p.S368N genotype distribution. PolyPhen-2 and SIFT, two algorithms for predicting the functional effects of amino acid substitutions, showed significant scores for p.R654H. Therefore, R654H might be a risk factor for epidermal barrier dysfunction in some Japanese AD patients.
Keywords
atopic dermatitis
SPINK5
LEKTI
serine protease inhibitor
epidermal barrier dysfunction
Amo Type
Original Article
Published Date
2018-06
Publication Title
Acta Medica Okayama
Volume
volume72
Issue
issue3
Publisher
Okayama University Medical School
Start Page
275
End Page
282
ISSN
0386-300X
NCID
AA00508441
Content Type
Journal Article
language
英語
Copyright Holders
CopyrightⒸ 2018 by Okayama University Medical School
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publisher
Refereed
True
PubMed ID