title: A polymorphism within the psoriasis susceptibility 1 candidate 1 (PSORS1C1) gene is not linked to HLA-B*58:01 in an Australian cohort.
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.
authors.affiliation: ImmunoRheumatology Laboratory, Pathology North-Northern Sydney, St Leonards, Australia. Electronic address: christopher.vidal@health.nsw.gov.au.
authors.forename: C
authors.initials: C
authors.lastname: Vidal
authors.affiliation: ImmunoRheumatology Laboratory, Pathology North-Northern Sydney, St Leonards, Australia.
authors.forename: J
authors.initials: J
authors.lastname: Li
authors.affiliation: ImmunoRheumatology Laboratory, Pathology North-Northern Sydney, St Leonards, Australia.
authors.forename: R
authors.initials: R
authors.lastname: Fulton
authors.affiliation: ImmunoRheumatology Laboratory, Pathology North-Northern Sydney, St Leonards, Australia.
authors.forename: S L
authors.initials: SL
authors.lastname: Fernando
mesh_terms: D001315:Australia; D015331:Cohort Studies; D005819:Genetic Markers; D060005:Genotyping Techniques; D015235:HLA-B Antigens / Q000235:genetics*; D015810:Linkage Disequilibrium; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D015235:HLA-B Antigens; C500126:HLA-B*58:01 antigen; C484393:PSORS1C1 protein, human; D011506:Proteins
keywords: Abacavir; Allopurinol; Carbamazepine; HLA; Linkage disequilibrium; Polymorphism; Severe adverse drug reactions