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Development of a simple genotyping method for the HLA-A*31:01-tagging SNP in Japanese
Keiko Maekawa1, Ryosuke Nakamura1, Nahoko Kaniwa1
1Division of Medicinal Safety Science, National Institute of Health Sciences, 1-18-1 Kamiyoga, Setagaya-ku, Tokyo 158-8501, Japan.
Pharmacogenomics
|October 23, 2015
Summary
A new, cost-effective method using single nucleotide polymorphism (SNP) genotyping can identify Japanese individuals at risk for carbamazepine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) by detecting the HLA-A*31:01 marker.
Area of Science:
- Pharmacogenomics
- Immunogenetics
Background:
- Carbamazepine (CBZ) is associated with Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN).
- HLA-A*31:01 is a known genetic risk factor for CBZ-related SJS/TEN in Japanese populations.
Purpose of the Study:
- To develop a simple, low-cost genotyping assay for a surrogate marker of HLA-A*31:01.
- To facilitate identification of Japanese patients at risk for CBZ-induced SJS/TEN.
Main Methods:
- Genotyping of DNA from Japanese SJS/TEN patients.
- Development of a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay for rs3869066 in ZNRD1-AS1.
- Confirmation of linkage disequilibrium between specific SNPs and HLA-A*31:01.
Main Results:
- HLA-A*31:01 demonstrated significant association with CBZ-related SJS/TEN (p = 0.0040).
- Three SNPs (rs1150738, rs3869066, rs259945) were in absolute linkage disequilibrium with HLA-A*31:01 in 210 Japanese patients.
- A robust genotyping method for rs3869066 was successfully established.
Conclusions:
- SNP genotyping offers a faster and more economical alternative to traditional HLA typing.
- This method is valuable for screening Japanese patients susceptible to CBZ-related SJS/TEN.
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