AUTHOR=Lee Su-Jun 

TITLE=Clinical Application of CYP2C19 Pharmacogenetics Toward More Personalized Medicine

JOURNAL=Frontiers in Genetics

VOLUME=3

YEAR=2013

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2012.00318

DOI=10.3389/fgene.2012.00318

ISSN=1664-8021

ABSTRACT=<p>More than 30 years of genetic research on the <italic>CYP2C19</italic> gene alone has identified approximately 2,000 reference single nucleotide polymorphisms (rsSNPs) containing 28 registered alleles in the P450 Allele Nomenclature Committee and the number continues to increase. However, knowledge of <italic>CYP2C19</italic> SNPs remains limited with respect to biological functions. Functional information on the variant is essential for justifying its clinical use. Only common variants (minor allele frequency &gt;5%) that represent <italic>CYP2C19*2</italic>, <italic>*3</italic>, <italic>*17</italic>, and others have been mostly studied. Discovery of new genetic variants is outstripping the generation of knowledge on the biological meanings of existing variants. Alternative strategies may be needed to fill this gap. The present study summarizes up-to-date knowledge on functional CYP2C19 variants discovered in phenotyped humans studied at the molecular level <italic>in vitro</italic>. Understanding the functional meanings of CYP2C19 variants is an essential step toward shifting the current medical paradigm to highly personalized therapeutic regimens.</p>