Screening of genetic variations of SLC15A2, SLC22A1, SLC22A2 and SLC22A6 genes

J Hum Genet. 2011 Sep;56(9):666-70. doi: 10.1038/jhg.2011.77. Epub 2011 Jul 28.


A growing list of membrane-spanning proteins involved in the transport of a large variety of drugs has been recognized and characterized to include peptide and organic anion/cation transporters. Given such an important role of transporter genes in drug disposition process, the role of single-nucleotide polymorphisms (SNPs) in such transporters as potential determinants of interindividual variability in drug disposition and pharmacological response has been investigated. To define the distribution of transporter gene SNPs across ethnic groups, we screened 450 DNAs in cohorts of 250 Korean, 50 Han Chinese, 50 Japanese, 50 African-American and 50 European-American ancestries for 64 SNPs in four transporter genes encoding proteins of the solute carrier family (SLC15A2, SLC22A1, SLC22A2 and SLC22A6). Of the 64 SNPs, 19 were core pharmacogenetic variants and 45 were HapMap tagging SNPs. Polymorphisms were genotyped using the golden gate genotyping assay. After genetic variability, haplotype structures and ethnic diversity were analyzed, we observed that the distributions of SNPs in a Korean population were similar to other Asian groups (Chinese and Japanese), and significantly different from African-American and European-American cohorts. Findings from this study would be valuable for further researches, including pharmacogenetic studies for drug responses.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asians / genetics
  • Blacks / genetics
  • Ethnicity / genetics*
  • Gene Frequency
  • Genetic Variation*
  • Genotype
  • HapMap Project
  • Haplotypes
  • Humans
  • Organic Anion Transport Protein 1 / genetics*
  • Organic Cation Transport Proteins / genetics*
  • Organic Cation Transporter 2
  • Pharmacogenetics
  • Polymorphism, Single Nucleotide
  • Symporters / genetics*
  • Whites / genetics


  • Organic Anion Transport Protein 1
  • Organic Cation Transport Proteins
  • Organic Cation Transporter 2
  • SLC22A2 protein, human
  • Symporters
  • hydrogen-coupled oligopeptide transporter PepT2