Development of a Simple Genotyping Method for the <i>Hla-A*31:01</i> -Tagging Snp in Japanese

  • Keiko Maekawa
    Division of Medicinal Safety Science, National Institute of Health Sciences, 1–18–1 Kamiyoga, Setagaya-ku, Tokyo 158–8501, Japan
  • Ryosuke Nakamura
    Division of Medicinal Safety Science, National Institute of Health Sciences, 1–18–1 Kamiyoga, Setagaya-ku, Tokyo 158–8501, Japan
  • Nahoko Kaniwa
    Division of Medicinal Safety Science, National Institute of Health Sciences, 1–18–1 Kamiyoga, Setagaya-ku, Tokyo 158–8501, Japan
  • Seiho Mizusawa
    EBM Research Center, Kyoto University Graduate School of Medicine, Yoshida-Konoecho, Sakyo-ku, Kyoto 606–8501, Japan
  • Aya Kitamoto
    EBM Research Center, Kyoto University Graduate School of Medicine, Yoshida-Konoecho, Sakyo-ku, Kyoto 606–8501, Japan
  • Takuya Kitamoto
    EBM Research Center, Kyoto University Graduate School of Medicine, Yoshida-Konoecho, Sakyo-ku, Kyoto 606–8501, Japan
  • Maho Ukaji
    Division of Medicinal Safety Science, National Institute of Health Sciences, 1–18–1 Kamiyoga, Setagaya-ku, Tokyo 158–8501, Japan
  • Yumiko Matsuzawa
    Division of Medicinal Safety Science, National Institute of Health Sciences, 1–18–1 Kamiyoga, Setagaya-ku, Tokyo 158–8501, Japan
  • Emiko Sugiyama
    Division of Medicinal Safety Science, National Institute of Health Sciences, 1–18–1 Kamiyoga, Setagaya-ku, Tokyo 158–8501, Japan
  • Yoshimi Uchida
    Division of Medicinal Safety Science, National Institute of Health Sciences, 1–18–1 Kamiyoga, Setagaya-ku, Tokyo 158–8501, Japan
  • Kouichi Kurose
    Division of Medicinal Safety Science, National Institute of Health Sciences, 1–18–1 Kamiyoga, Setagaya-ku, Tokyo 158–8501, Japan
  • Mayumi Ueta
    Department of Ophthalmology, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto 602–0841, Japan
  • Chie Sotozono
    Department of Ophthalmology, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto 602–0841, Japan
  • Hiroko Ikeda
    Shizuoka Institute of Epilepsy & Neurological Disorders, National Epilepsy Center, 886 Urushiyama, Aoi-ku, Shizuoka-shi, Shizuoka 420–8688, Japan
  • Akiko Yagami
    Department of Dermatology, Fujita Health University School of Medicine, 1–98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi 470–1192, Japan
  • Setsuko Matsukura
    Department of Environmental Immuno-dermatology, Yokohama City University Graduate School of Medicine, 3–9 Fukuura, Kanazawa-ku, Yokohama 236–0027, Japan
  • Shigeru Kinoshita
    Department of Frontier Medical Science & Technology for Ophthalmology, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto 602–0841, Japan
  • Masaaki Muramatsu
    Molecular Epidemiology, Medical Research Institute, Tokyo Medical & Dental University, 1–5–45 Yushima, Bunkyo-ku, Tokyo 113–0034, Japan
  • Zenro Ikezawa
    Department of Environmental Immuno-dermatology, Yokohama City University Graduate School of Medicine, 3–9 Fukuura, Kanazawa-ku, Yokohama 236–0027, Japan
  • Akihiro Sekine
    EBM Research Center, Kyoto University Graduate School of Medicine, Yoshida-Konoecho, Sakyo-ku, Kyoto 606–8501, Japan
  • Hirokazu Furuya
    Department of Neurology, Kochi Medical School, Kochi University, Oko-cho Kohasu, Nankoku, Kochi 783–8505, Japan
  • Yukitoshi Takahashi
    Shizuoka Institute of Epilepsy & Neurological Disorders, National Epilepsy Center, 886 Urushiyama, Aoi-ku, Shizuoka-shi, Shizuoka 420–8688, Japan
  • Kayoko Matsunaga
    Department of Dermatology, Fujita Health University School of Medicine, 1–98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi 470–1192, Japan
  • Michiko Aihara
    Department of Environmental Immuno-dermatology, Yokohama City University Graduate School of Medicine, 3–9 Fukuura, Kanazawa-ku, Yokohama 236–0027, Japan
  • Yoshiro Saito
    Division of Medicinal Safety Science, National Institute of Health Sciences, 1–18–1 Kamiyoga, Setagaya-ku, Tokyo 158–8501, Japan

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説明

To construct a simple, low-cost typing method for the surrogate marker of HLA-A*31:01, a risk factor for carbamazepine (CBZ) related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN).DNAs from Japanese SJS/TEN patients were used for genotyping and developing the assay.HLA-A*31:01 was confirmed to be significantly associated with definite/probable cases of CBZ-related SJS/TEN (p = 0.0040). Three single nucleotide polymorphisms, rs1150738, rs3869066 and rs259945, were in absolute linkage disequilibrium with HLA-A*31:01 in 210 Japanese SJS/TEN patients. Robust genotyping of rs3869066 in ZNRD1-AS1 was developed using polymerase chain reaction-restriction fragment length polymorphism assays.Single nucleotide polymorphism genotyping is less time consuming and cheaper than conventional HLA typing, and would be useful for identifying Japanese patients at risk of CBZ-related SJS/TEN.

収録刊行物

  • Pharmacogenomics

    Pharmacogenomics 16 (15), 1689-1699, 2015-10

    Informa UK Limited

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