Combination of Genome-Wide Polymorphisms and Copy Number Variations of Pharmacogenes in Koreans.

For predicting phenotypes and executing precision medicine, combination analysis of single nucleotide variants (SNVs) genotyping with copy number variations (CNVs) is required. The aim of this study was to discover SNVs or common copy CNVs and examine the combined frequencies of SNVs and CNVs in pharmacogenes using the Korean genome and epidemiology study (KoGES), a consortium project. The genotypes ( = 72,299) and CNV data ( = 1000) were provided by the Korean National Institute of Health, Korea Centers for Disease Control and Prevention. The allele frequencies of SNVs, CNVs, and combined SNVs with CNVs were calculated and haplotype analysis was performed. rs1065852 (c.100C>T, p.P34S) was the most common variant allele (48.23%). A total of 8454 haplotype blocks in 18 pharmacogenes were estimated. ranked the highest in frequency for gene gain (64.52%), while ranked the highest in frequency for gene loss (51.80%). Copy number gain of was observed in 22 subjects; 13 of those subjects were carriers with *3 gain. In the case of , approximately one-half of the participants ( = 308) had loss of the *1*1 diplotype. The frequencies of SNVs and CNVs in pharmacogenes were determined using the Korean cohort-based genome-wide association study.