2015年
Development of a simple genotyping method for the HLA-A*31:01-tagging SNP in Japanese
PHARMACOGENOMICS
- 巻
- 16
- 号
- 15
- 開始ページ
- 1689
- 終了ページ
- 1699
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.2217/pgs.15.115
- 出版者・発行元
- FUTURE MEDICINE LTD
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 & 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.
- リンク情報
- ID情報
-
- DOI : 10.2217/pgs.15.115
- ISSN : 1462-2416
- eISSN : 1744-8042
- PubMed ID : 26490229
- Web of Science ID : WOS:000363398100002