Research Fund Secretariat - Detail of Approved Project (Reference No.: 02132726)

Detail of Approved Project (Reference No.: 02132726)

Fund	:	HMRF - Advanced Medical Research
Project Status	:	Closed
Reference No.	:	02132726
Project Title	:	Pharmacogenomics Assessment of Serious Cutaneous Adverse drug reactions (PASCA) : A retrospective study
Research Activity Code	:	Aetiology
Health Category	:	Skin
Applicant(s)	:	CHEUNG CL(1) WONG ICK(1) PIRMOHAMED M(2) CARLETON BC(3) CHAN JCY(4) SHAM PC(5) CHEUNG BMY(4)
Affiliation(s)	:	Pharmacology & Pharmacy,The University of Hong Kong(1) Department of Molecular and Clinical Pharmacology,University of Liverpool(2) Paediatrics,THE UNIVERSITY OF BRITISH COLUMBIA(3) Department of Medicine,University of Hong Kong(4) Psychiatry,The University of Hong Kong(5)
Approved Amount (HK$)	:	$910,176.00
Abstract	:	Background: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are serious cutaneous disorders frequently caused by drug reaction. The “International Consortium on Drug Hypersensitivities” (ITCH) was set up to identify the genetic factors of these ADRs. HK has potential to contribute significant cases towards international collaboration. Objectives: To perform genome-wide meta-analysis of SJS/TEN with the ITCH to identify potential non-ethnic-specific variants associated with SJS/TEN. To identify causal variants in the HLA-region using re-sequencing. To contribute data to ITCH and “Canadian Pharmacogenomics Network for Drug Safety” to promote future genetic evaluation of SJS/TEN internationally. Methods: Subjects: We will use the Clinical Data Analysis and Reporting System to identify patients with SJS/TEN; local investigators will gain the consent of 50 patients for genetic tests. Tests: Genome-wide genotyping and re-sequencing of the HLA locus using Hi-seq. Control: GWAS data of 800 healthy controls (without SJS/TEN) will be used. 100 matched subjects amongst these controls will be selected for re-sequencing. Analysis: Meta-analysis of the effects and standard errors will be carried out with data from the current study and the ITCH using the inverse-variance method. Single nucleotide variants (SNV) will be called from the re-sequencing data; SNV test and burden test will be done using the software SKAT. HLA allele will be called from the re-sequencing data using HLA caller and ATHLATES and tested using logistic regression. Outcome: Identification of potential genes associated with serious cutaneous adverse reactions will facilitate the development of potential genetic tests for HK patients.
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Dissemination Report	:
Final Report	:		02132726FR.pdf

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