Journal of Pharmaceutical Investigation

The Korean Society of Pharmaceutical Sciences and Technology (한국약제학회)
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Haplotype Analysis and Single Nucleotide Polymorphism Frequency of Organic Cation Transporter Gene (OCT1 and 2) in Korean Subjects

  • Kim, Se-Mi (College of Pharmacy, Institute of Bioequivalence and Bridging Study, Chonnam National University) ;
  • Lee, Sang-No (College of Pharmacy, Institute of Bioequivalence and Bridging Study, Chonnam National University) ;
  • Yoon, Hwa (College of Pharmacy, Institute of Bioequivalence and Bridging Study, Chonnam National University) ;
  • Kang, Hyun-Ah (Pharmaceutical Research Institute, CJ Cheiljedang Corp.) ;
  • Cho, Hea-Young (Clinical Trials Management Division, KFDA) ;
  • Lee, Il-Kwon (Genome Research Center for Hematopoietic Diseases (GRCHD), Chonnam National University) ;
  • Lee, Yong-Bok (College of Pharmacy, Institute of Bioequivalence and Bridging Study, Chonnam National University)
  • Published : 2009.10.20
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Abstract

Organic cation transporters (OCTs) are important for absorption, elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is located in a cluster on chromosome 6 and OCTs are in major organs such as intestine, liver, kidney, brain and placenta. Therefore, expression levels and function of OCTs directly affect plasma levels and intracellular concentrations of drugs and thereby determine therapeutic response. The aim of this study was to investigate the frequency of the SNPs on OCT1 (C181T and C1022T) and OCT2 (G808T) to analyze haplotype frequency in healthy Korean population. Human subjects have been genotyped for OCT1 (C181T for 195 subjects and C1022T for 825 subjects), using polymerase chain reaction-based diagnostic tests (RFLP). And for OCT2 (G808T), a total of 861 subjects have been genotyped, using pyrosequencing method. Haplotype was statistically inferred using an algorithm based on the expectation-maximization (EM). OCT1 C181T genotyping showed 100% homozygous wild-type (C/C). OCT1 C1022T genotyping showed wild-type (C/C), heterozygous (C/T) and homozygous mutant-type (T/T) and each accounted for 72.1, 24.5 and 3.4%, respectively. OCT2 G808T genotyping results also showed homozygous wild-type (G/G), heterozygous (G/T) and homozygous mutant-type (T/T) and each took 81.8, 17.9 and 0.3%, respectively. Based on these genotype data, haplotype analysis between OCT1 C181T and OCT1 C1022T has proceeded. The result has revealed that linkage disequilibrium between alleles is not obvious (P=0.0122).

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