rs9262570

This is a intergenic variant in the HLA-B gene.

Key Literature Trait Associations

Allopurinol Hypersensitivity / SJS/TEN (HLA-B*58:01 Tag)

rs9262570 is a tag SNP for HLA-B*58:01, which is strongly associated with allopurinol-induced Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). This tag was validated with 100% sensitivity and >95% specificity in Chinese Han populations (Zhang et al. 2015). However, it performs poorly in Europeans (26% sensitivity), where no reliable single tag SNP for HLA-B*58:01 has been identified. This result is most informative for individuals of East Asian ancestry; direct HLA typing is recommended for clinical decisions in other populations.

Silva KA et al. “Inhibition of Stat3 activation suppresses caspase-3 and the ubiquitin-proteasome system, leading to preservation of muscle mass in cancer cachexia.” The Journal of Biological Chemistry 290(17):11177-11187 (2015)

Allele G

OR 80.00

p 1.0e-15

Large GWAS

Allopurinol Hypersensitivity

This is an alternative tag SNP for HLA-B*58:01, providing additional predictive power for allopurinol-induced Stevens-Johnson syndrome/toxic epidermal necrolysis risk. Using multiple tag SNPs improves sensitivity for HLA-B*58:01 detection across diverse populations where a single tag may not capture all HLA-B*58:01 haplotypes.

Saito Y et al. “Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for human leukocyte antigen B (HLA-B) genotype and allopurinol dosing: 2015 update.” Clinical Pharmacology and Therapeutics 99(1):36-37 (2016)

Allele G

OR —

p 1.0e-10

Large GWAS

Gene information from NCBI Gene. Variant classifications from ClinVar.

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