Biomarker Identification and Association Studies

A set of vocabulary flashcards based on lecture notes surrounding biomarker identification methods, clinical examples like Abacavir and Simvastatin, and the use of microarrays in gene expression profiling.

Rational candidate gene selection study

The rational selection of a candidate gene from known pathways involved in disease progression or treatment, such as drug metabolism pathways and drug targets.

Genome wide association study (GWAS)

A study used to identify candidate genes by analyzing the DNA of two cohorts for variations, such as SNPs from across the genome, associated with a phenotype.

Replication studies

Follow-up studies performed using independent datasets to confirm a positive association found between a phenotype and a genotype.

Drug-induced hypersensitivity

An inappropriate immune reaction occurring within weeks of initiating a drug where the drug acts as an antigen, activating the adaptive immune response.

MHC locus

A genomic region located on chromosome $6$ associated with drug-induced hypersensitivity and the activation of the adaptive immune response.

Abacavir

An HIV reverse transcriptase inhibitor that can cause hypersensitivity syndrome; testing for the $HLA-B*5701$ status is required before its use.

HLA-B*5701, HLA-DR7, and HLA-DQ3

A combination of alleles that, when present together, were found to be associated with Abacavir hypersensitivity.

Microarray

Also known as a DNA chip, it is a panel of single-stranded oligonucleotide probes spotted onto a solid support to represent DNA for analysis or gene expression profiling.

Gene expression profiling

A technique used for the comparative analysis of expression between two samples, such as in the study of Crohn's disease and ulcerative colitis.

IBD-1 and IBD-2

Two identified biomarker signatures where high expression of IBD-1 serves as an indicator of relapsing disease in patients with inflammatory bowel disease.

PredictSURE IBD

A biomarker assay developed following the identification of the IBD-1 and IBD-2 signatures to predict disease courses.

Single nucleotide variations (SNPs)

Variations across the genome compared during GWAS using isolated DNA instead of mRNA.

Simvastatin-induced myopathy

An adverse drug reaction (ADR) associated with the $80\,mg$ dose cohort in a trial, linked to a specific SNP in a solute carrier transporter.

SLCOIB1 ($5*$ allele)

A SNP in the solute carrier organic anion-transporter identified as being associated with Simvastatin-induced myopathy when present as homozygous.