title: Screening for 392 polymorphisms in 141 pharmacogenes.
abstract: Pharmacogenomics is the study of the association between inter-individual genetic differences and drug responses. Researches in pharmacogenomics have been performed in compliance with the use of several genotyping technologies. In this study, a total of 392 single-nucleotide polymorphisms (SNPs) located in 141 pharmacogenes, including 21 phase I, 13 phase II, 18 transporter and 5 modifier genes, were selected and genotyped in 150 subjects using the GoldenGate assay or the SNaPshot technique. These variants were in Hardy-Weinberg equilibrium (HWE) (P>0.05), except for 22 SNPs. Genotyping of the 392 SNPs revealed that the minor allele frequencies of 47 SNPs were <0.05, 105 SNPs were monomorphic and 22 variants were not in HWE. Also, based on previous studies, we predicted the association between the polymorphisms of certain pharmacogenes, such as cytochrome P450 2D6, cytochrome P450 2C9, vitamin K epoxide reductase complex, subunit 1, cytochrome P450 2C19, human leukocyte antigen, class I, B and thiopurine S-methyltransferase, and drug efficacy. In conclusion, our study demonstrated the allele distribution of SNPs in 141 pharmacogenes as determined by high-throughput screening. Our results may be helpful in developing personalized medicines by using pharmacogene polymorphisms.
authors.affiliation: Department of Life Science, Sogang University, SNP Genetics, Inc., Seoul 121-742, Republic of Korea.
authors.forename: Jason Yongha
authors.initials: JY
authors.lastname: Kim
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., Seoul 121-742, Republic of Korea.
authors.forename: Hyun Sub
authors.initials: HS
authors.lastname: Cheong
authors.affiliation: Department of Life Science, Sogang University, SNP Genetics, Inc., Seoul 121-742, Republic of Korea.
authors.forename: Tae-Joon
authors.initials: TJ
authors.lastname: Park
authors.affiliation: Division of Clinical Reaserch, Department of Toxicological Evaluation and Research, National Institute of Food and Drug Safety Evaluation, Osong Health Technology Administration Complex, Osong, Chungcheongbuk 363-700, Republic of Korea.
authors.forename: Hee Jung
authors.initials: HJ
authors.lastname: Shin
authors.affiliation: Division of Clinical Reaserch, Department of Toxicological Evaluation and Research, National Institute of Food and Drug Safety Evaluation, Osong Health Technology Administration Complex, Osong, Chungcheongbuk 363-700, Republic of Korea.
authors.forename: Doo Won
authors.initials: DW
authors.lastname: Seo
authors.affiliation: Division of Clinical Reaserch, Department of Toxicological Evaluation and Research, National Institute of Food and Drug Safety Evaluation, Osong Health Technology Administration Complex, Osong, Chungcheongbuk 363-700, Republic of Korea.
authors.forename: Han Sung
authors.initials: HS
authors.lastname: Na
authors.affiliation: Division of Clinical Reaserch, Department of Toxicological Evaluation and Research, National Institute of Food and Drug Safety Evaluation, Osong Health Technology Administration Complex, Osong, Chungcheongbuk 363-700, Republic of Korea.
authors.forename: Myeon Woo
authors.initials: MW
authors.lastname: Chung
authors.affiliation: Department of Life Science, Sogang University, SNP Genetics, Inc., Seoul 121-742, Republic of Korea ; Department of Genetic Epidemiology, SNP Genetics, Inc., Seoul 121-742, Republic of Korea.
authors.forename: Hyoung Doo
authors.initials: HD
authors.lastname: Shin
keywords: gene screening; pharmacogene; single-nucleotide polymorphism