A. Iida et al., Catalog of 320 single nucleotide polymorphisms (SNPs) in 20 quinone oxidoreductase and sulfotransferase genes, J HUM GENET, 46(4), 2001, pp. 225-240
Single nucleotide polymorphisms (SNPs) in genes encoding drug-metabolizing
enzymes, transporters, receptors, and other drug targets have been widely i
mplicated as contributors to differences among individuals as regards the e
fficacy and toxicity of many medications, as well as the susceptibility to
complex diseases. By combining the polymerase chain reaction (PCR) techniqu
e with direct sequencing, we screened genomic DNAs from 48 Japanese Volunte
ers for SNPs in genes encoding three quinone oxidoreductases (NQO1, NQO2, a
nd PIG3) and 17 sulfotransferases (SULT1A1, SULT1A2, SULT1A3, SULT1C1, SULT
1C2, SULT2A1, SULT2B1, ST1B2 TPST1, TPST2, SULTX3, STE, CST, HNK-1 ST, CHST
2, CHST4, and CHST5). In all, we identified 320 SNPs from these 20 loci: 22
within coding elements, 21 in 5' flanking regions, 10 in 5' untranslated r
egions, 223 in introns, 19 in 3' untranslated regions, and 25 in 3' flankin
g regions. The ratio of transitions to transversions was approximately 2.3
to 1. Of the 22 coding SNPs, 6 were nonsynonymous substitutions that result
ed in amino-acid substitutions. The high-density SNP maps we constructed fr
om this data for each of the quinone oxidoreductases and sulfotransferases
examined here should provide useful information for investigations designed
to detect association(s) between genetic variations and common diseases or
responsiveness to drug therapy.