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PIII‐33
Author(s) -
Yin O. Q.,
Wang Z. J.,
Chow M. S.
Publication year - 2006
Publication title -
clinical pharmacology and therapeutics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.941
H-Index - 188
eISSN - 1532-6535
pISSN - 0009-9236
DOI - 10.1016/j.clpt.2005.12.241
Subject(s) - single nucleotide polymorphism , haplotype , genetics , exon , population , biology , allele frequency , genotype , allele , intron , gene , medicine , environmental health
BACKGROUND The human organic cation transporter OCT2 is a major transporter for the uptake of many cationic xenobiotics. Genetic variations in OCT2 have been recently reported in Caucasian and Asian Americans, but not in Chinese population. Thus we carried out this study to investigate the potential polymorphism of OCT2 gene in this population. METHODS Direct sequencing of all 11 exons and the surrounding intronic regions of OCT2 gene was performed using genomic DNA from 112 healthy Chinese subjects. Haplotypes were estimated by expectation maximization (EM) algorithm‐based method. RESULTS Thirteen single nucleotide polymorphisms (SNPs) were identified, of which 8 were novel in our Chinese population (ie. have not been identified in Caucasian and Asian Americans). Among the 13 SNPs identified, 4 were located in the exons and 9 in introns. The 4 cSNPs were 390G>T, 596G>T, 808G>T and 1506A>G, with allele frequencies of 18.3, 0.4, 13.3 and 15.5% respectively. The 9 intronic SNPs exhibited an allele frequency range of 12.4% to 75.3%. Haplotype analysis revealed 25 different halotypes, of which 4 are common (frequency >5%) in our population. CONCLUSIONS The newly identified variants of OCT2 in our Chinese population may have functional significance, especially those involving amino acid changes. Further studies on the phenotype‐genotype relationship as well as the functional impact of haplotypic association are warranted. Clinical Pharmacology & Therapeutics (2005) 79 , P67–P67; doi: 10.1016/j.clpt.2005.12.241