title: A study of HLA-B∗15:02 in a Sri Lankan population: Implications for pharmacogenomic testing.
abstract: HLA-B∗15:02 is known as a biomarker for carbamazepine (CBZ) induced Steven-Johnson Syndrome and Toxic Epidermal Necrolysis (SJS/TEN) in some Asian populations. Hence United States Federal Drug Administration (USFDA) recommends HLA-B∗15:02 screening for Asian and other populations with a high prevalence of HLA-B∗15:02, prior to the administration of carbamazepine. This study was conducted to estimate the prevalence of HLA-B∗15:02 in a cohort of Sri Lankans. We observed an overall prevalence of 4.3% (4/93) among 93 Sri Lankans comprising 32 Sinhalese, 30 Sri Lankan Tamils and 31 Moors. The allele was detected in 3 [9.3%; 3/32] Sinhalese, 0 [0%; 0/30] Sri Lankan Tamils and in 1 [3%; 1/31] Moor. The overall prevalence of HLA-B∗15:02 in this population was close to that of other populations where the USFDA has recommended HLA-B∗15:02 screening. A larger study is required to confirm these findings, especially among the Sinhalese where the frequency appears to be high.
authors.affiliation: Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka.
authors.forename: K M D
authors.initials: KM
authors.lastname: Gunathilake
authors.affiliation: Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka.
authors.forename: K T
authors.initials: KT
authors.lastname: Wettasinghe
authors.affiliation: Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka. Electronic address: vajirahwd@hotmail.com.
authors.forename: V H W
authors.initials: VH
authors.lastname: Dissanayake
mesh_terms: D002220:Carbamazepine / Q000008:administration & dosage / Q000009:adverse effects*; D015331:Cohort Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D059910:HLA-B15 Antigen / Q000235:genetics*; D006801:Humans; D011110:Polymorphism, Genetic; D044382:Population Groups; D012306:Risk; D013188:Sri Lanka; D013262:Stevens-Johnson Syndrome / Q000209:etiology / Q000235:genetics*; D014481:United States; D014486:United States Food and Drug Administration
chemical_list: C483536:HLA-B*15:02 antigen; D059910:HLA-B15 Antigen; D002220:Carbamazepine
keywords: Biomarker; Carbamazepine; HLA-B∗15:02; Pharmacogenomics; Steven-Johnson syndrome; Toxic epidermal necrolysis