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KMID : 1143420160090450905
Public Health Weekly Report
2016 Volume.9 No. 45 p.905 ~ p.909
Korea Biobank Array Application to Precision Medicine: Pharmacogenomics
Yun Jun-Ho

Kim Young-Jin
Moon Sang-Hoon
Kim Bong-Jo
Abstract
Precision medicine is an emerging field in medicine for disease diagnosis and prevention with genetic information, environmental factors, and lifestyle. Pharmacogenomics, one of the research fields regarding precision medicine, is the study of genetic variations that influence an individual response to drugs. Genetic variation is known for affecting drug pharmacokinetics through modulation of drug absorption, distribution, metabolism, and elimination (ADME). However, drug reaction by genotype discrepancy may either be toxic or non-efficacious, individually. Therefore, it is very important to identify genetic variants responsible for drug response variations. Personal information of previously known pharmacogenomic variants can be obtained by genotyping Single Nuclotide Polymorphism (SNP) chips. For example, Affymetrix, Drug Metabolism Enzymes and Transporter (DMET) chip, contains 1,936 variants of 231 pharmacogenomic variants. Recently, the Korean National Institute of Health, KCDC designed the Korea Biobank array (KCHIP) that contains tagging SNPs that maximizes genomic coverage based on the Korean genomic structure. Particularly, it contains functional SNPs, such as, nonsynonymous, expression quantitative trait loci (eQTL), disease associated SNPs and also contains about 2,000 pharmacogenomic variants. In this short communication, pharmacogenomics will be introduced along with SNP microarrays, such as, DMET and Korea Biobank Array.
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