A polymorphism within the psoriasis susceptibility 1 candidate 1 (PSORS1C1) gene is not linked to HLA-B*58:01 in an Australian cohort

Drug Metab Pharmacokinet. 2016 Jun;31(3):252-5. doi: 10.1016/j.dmpk.2015.08.007. Epub 2015 Sep 2.

Abstract

Association exists between HLA-B*58:01 allele and allopurinol Stevens-Johnson syndrome (SJS), especially those of an Asian heritage but associations have been also described in Caucasian populations. This creates the need to develop a rapid, robust and inexpensive assay for pre-screening of HLA-B*58:01. A polymorphism within PSORS1C1 gene was recently found in linkage disequilibrium (LD) with HLA-B*58:01 allele in the Japanese population. The aim of this study is to confirm whether this polymorphism can be used as a surrogate biomarker to identify carriers for HLA-B*58:01. No linkage was found between the two in the Australian cohort.

Keywords: Abacavir; Allopurinol; Carbamazepine; HLA; Linkage disequilibrium; Polymorphism; Severe adverse drug reactions.

MeSH terms

  • Australia
  • Cohort Studies
  • Genetic Markers
  • Genotyping Techniques
  • HLA-B Antigens / genetics*
  • Linkage Disequilibrium
  • Polymorphism, Genetic*
  • Proteins / genetics*

Substances

  • Genetic Markers
  • HLA-B Antigens
  • HLA-B*58:01 antigen
  • PSORS1C1 protein, human
  • Proteins