JaLCDOI 10.18926/AMO/56073
フルテキストURL 72_3_275.pdf
著者 Morizane, Shin| Ouchida, Mamoru| Sunagawa, Ko| Sugimoto, Saeko| Kobashi, Mina| Sugihara, Satoru| Nomura, Hayato| Tsuji, Kazuhide| Sato, Atsushi| Miura, Yoshihiro| Hattori, Hiroaki| Tada, Kotaro| Huh, Wook-Kang| Seno, Akemi| Iwatsuki, Keiji|
抄録 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.
キーワード atopic dermatitis SPINK5 LEKTI serine protease inhibitor epidermal barrier dysfunction
Amo Type Original Article
発行日 2018-06
出版物タイトル Acta Medica Okayama
出版者 Okayama University Medical School
開始ページ 275
終了ページ 282
ISSN 0386-300X
NCID AA00508441
資料タイプ 学術雑誌論文
言語 English
著作権者 CopyrightⒸ 2018 by Okayama University Medical School
論文のバージョン publisher
査読 有り
PubMed ID 29926005