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2014 ; 2
(4
): 463-476
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Screening for 392 polymorphisms in 141 pharmacogenes
#MMPMID24944790
Kim JY
; Cheong HS
; Park TJ
; Shin HJ
; Seo DW
; Na HS
; Chung MW
; Shin HD
Biomed Rep
2014[Jul]; 2
(4
): 463-476
PMID24944790
show ga
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.