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

Authors :: 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
Source :: Pharmacogenomics [Pharmacogenomics] 2015; Vol. 16 (15), pp. 1689-99. Date of Electronic Publication: 2015 Oct 02.
Publication Year :: 2015
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).<br />Materials & Methods: DNAs from Japanese SJS/TEN patients were used for genotyping and developing the assay.<br />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.<br />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.

Subjects :: Anticonvulsants adverse effects
Carbamazepine adverse effects
DNA genetics
Gene Frequency
Genetic Markers
Genotype
Humans
Japan
Linkage Disequilibrium
Polymorphism, Restriction Fragment Length
Polymorphism, Single Nucleotide
Stevens-Johnson Syndrome epidemiology
Treatment Outcome
Asian People genetics
HLA-A Antigens genetics
Stevens-Johnson Syndrome genetics

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