Development of a simple genotyping method for the HLA-A∗31:01-tagging SNP in Japanese

Keiko Maekawa; Ryosuke Nakamura; Nahoko Kaniwa; Seiho Mizusawa; Aya Kitamoto; Takuya Kitamoto; Maho Ukaji; Yumiko Matsuzawa; Emiko Sugiyama; Yoshimi Uchida; Kouichi Kurose; Mayumi Ueta; Chie Sotozono; Hiroko Ikeda; Akiko Yagami; Setsuko Matsukura; Shigeru Kinoshita; Masaaki Muramatsu; Zenro Ikezawa; Akihiro Sekine; Hirokazu Furuya; Yukitoshi Takahashi; Kayoko Matsunaga; Michiko Aihara; Yoshiro Saito

doi:10.2217/pgs.15.115

Development of a simple genotyping method for the HLA-A∗31:01-tagging SNP in Japanese

Keiko Maekawa
, Ryosuke Nakamura
, Nahoko Kaniwa
, Seiho Mizusawa
, Aya Kitamoto
, Takuya Kitamoto
, Maho Ukaji
, Yumiko Matsuzawa
, Emiko Sugiyama
, Yoshimi Uchida
, Kouichi Kurose
, Mayumi Ueta
, Chie Sotozono
, Hiroko Ikeda
, Akiko Yagami
, Setsuko Matsukura
, Shigeru Kinoshita
, Masaaki Muramatsu
, Zenro Ikezawa
, Akihiro Sekine

Hirokazu Furuya, Yukitoshi Takahashi, Kayoko Matsunaga, Michiko Aihara, Yoshiro Saito

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

Abstract

Aim: 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). Materials and methods: DNAs from Japanese SJS/TEN patients were used for genotyping and developing the assay. Results: 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. Conclusion: 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.

Original language	English
Pages (from-to)	1689-1699
Number of pages	11
Journal	Pharmacogenomics
Volume	16
Issue number	15
DOIs	https://doi.org/10.2217/pgs.15.115
Publication status	Published - 10-2015

All Science Journal Classification (ASJC) codes

Molecular Medicine
Genetics
Pharmacology

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Maekawa, K., Nakamura, R., Kaniwa, N., Mizusawa, S., Kitamoto, A., Kitamoto, T., Ukaji, M., Matsuzawa, Y., Sugiyama, E., Uchida, Y., Kurose, K., Ueta, M., Sotozono, C., Ikeda, H., Yagami, A., Matsukura, S., Kinoshita, S., Muramatsu, M., Ikezawa, Z., ... Saito, Y. (2015). Development of a simple genotyping method for the HLA-A∗31:01-tagging SNP in Japanese. Pharmacogenomics, 16(15), 1689-1699. https://doi.org/10.2217/pgs.15.115

@article{ea407e171b224a1ca7c02e569ca33633,

title = "Development of a simple genotyping method for the HLA-A∗31:01-tagging SNP in Japanese",

abstract = "Aim: 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). Materials and methods: DNAs from Japanese SJS/TEN patients were used for genotyping and developing the assay. Results: 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. Conclusion: 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.",

keywords = "PCR-RFLP, Stevens-Johnson syndrome/toxic epidermal necrolysis, carbamazepine, screening test",

author = "Keiko Maekawa and Ryosuke Nakamura and Nahoko Kaniwa and Seiho Mizusawa and Aya Kitamoto and Takuya Kitamoto and Maho Ukaji and Yumiko Matsuzawa and Emiko Sugiyama and Yoshimi Uchida and Kouichi Kurose and Mayumi Ueta and Chie Sotozono and Hiroko Ikeda and Akiko Yagami and Setsuko Matsukura and Shigeru Kinoshita and Masaaki Muramatsu and Zenro Ikezawa and Akihiro Sekine and Hirokazu Furuya and Yukitoshi Takahashi and Kayoko Matsunaga and Michiko Aihara and Yoshiro Saito",

note = "Publisher Copyright: {\textcopyright} 2015 Future Medicine Ltd.",

year = "2015",

month = oct,

doi = "10.2217/pgs.15.115",

language = "English",

volume = "16",

pages = "1689--1699",

journal = "Pharmacogenomics",

issn = "1462-2416",

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Maekawa, K, Nakamura, R, Kaniwa, N, Mizusawa, S, Kitamoto, A, Kitamoto, T, Ukaji, M, Matsuzawa, Y, Sugiyama, E, Uchida, Y, Kurose, K, Ueta, M, Sotozono, C, Ikeda, H, Yagami, A, Matsukura, S, Kinoshita, S, Muramatsu, M, Ikezawa, Z, Sekine, A, Furuya, H, Takahashi, Y, Matsunaga, K, Aihara, M & Saito, Y 2015, 'Development of a simple genotyping method for the HLA-A∗31:01-tagging SNP in Japanese', Pharmacogenomics, vol. 16, no. 15, pp. 1689-1699. https://doi.org/10.2217/pgs.15.115

TY - JOUR

T1 - Development of a simple genotyping method for the HLA-A∗31:01-tagging SNP in Japanese

AU - Maekawa, Keiko

AU - Nakamura, Ryosuke

AU - Kaniwa, Nahoko

AU - Mizusawa, Seiho

AU - Kitamoto, Aya

AU - Kitamoto, Takuya

AU - Ukaji, Maho

AU - Matsuzawa, Yumiko

AU - Sugiyama, Emiko

AU - Uchida, Yoshimi

AU - Kurose, Kouichi

AU - Ueta, Mayumi

AU - Sotozono, Chie

AU - Ikeda, Hiroko

AU - Yagami, Akiko

AU - Matsukura, Setsuko

AU - Kinoshita, Shigeru

AU - Muramatsu, Masaaki

AU - Ikezawa, Zenro

AU - Sekine, Akihiro

AU - Furuya, Hirokazu

AU - Takahashi, Yukitoshi

AU - Matsunaga, Kayoko

AU - Aihara, Michiko

AU - Saito, Yoshiro

PY - 2015/10

Y1 - 2015/10

N2 - Aim: 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). Materials and methods: DNAs from Japanese SJS/TEN patients were used for genotyping and developing the assay. Results: 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. Conclusion: 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.

AB - Aim: 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). Materials and methods: DNAs from Japanese SJS/TEN patients were used for genotyping and developing the assay. Results: 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. Conclusion: 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.

KW - PCR-RFLP

KW - Stevens-Johnson syndrome/toxic epidermal necrolysis

KW - carbamazepine

KW - screening test

UR - https://www.scopus.com/pages/publications/84949227945

UR - https://www.scopus.com/pages/publications/84949227945#tab=citedBy

U2 - 10.2217/pgs.15.115

DO - 10.2217/pgs.15.115

M3 - Article

C2 - 26490229

AN - SCOPUS:84949227945

SN - 1462-2416

VL - 16

SP - 1689

EP - 1699

JO - Pharmacogenomics

JF - Pharmacogenomics

IS - 15

ER -

Development of a simple genotyping method for the HLA-A∗31:01-tagging SNP in Japanese

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