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

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)


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 languageEnglish
Pages (from-to)1689-1699
Number of pages11
Issue number15
Publication statusPublished - 10-2015

All Science Journal Classification (ASJC) codes

  • Molecular Medicine
  • Genetics
  • Pharmacology


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