Table I.
Summary of Allele Frequency of the 28 SNPs in 1,038 Taiwanese People and Comparison with Different Ethnic Groups
| Enzyme | RefSNP ID | SNP Ref/Var | Ancestral allelea | Position in locus | Amino acid change | Frequencies of the variant SNPb | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| Taiwanese | Han Chinese | Japanese | Caucasian | African | ||||||
| CYP2A6 | rs1809810 | A/T | NA | Exon 8 | F392Y | 0.017 | NA | NA | 0 | 0 |
| rs5031016 | T/C | NA | Exon 9 | I471T | 0.147 | NA | NA | 0 | 0 | |
| rs5031017 | G/T | NA | Exon 9 | G479V | 0.018 | NA | NA | 0 | 0.125 | |
| rs28399468 | G/T | NA | Exon 9 | R485L | 0.052 | NA | 0.022 | NA | NA | |
| CYP2C9 | rs1057910 | A/C | A | Exon 7 | I359L | 0.031 | 0.044 | 0.033 | 0.058 | 0 |
| rs4918758 | T/C | C | 5′ promotor | NA | 0.392 | 0.333 | 0.400 | 0.383 | 0.275 | |
| CYP2C19 | rs4244285 | G/A | G | Exon 5 | P227P | 0.312 | 0.256 | 0.284 | 0.150 | 0.167 |
| rs3758581 | G/A | G | ±9-exon 7 | V331I | 0.033 | 0.067 | 0.102 | 0.051 | 0 | |
| rs11568732 | T/G | T | 5′ promotor | NA | 0.076 | 0.089 | 0.133 | 0.059 | 0.075 | |
| rs4986893 | G/A | G | Exon 4 | W212X | 0.058 | 0.033 | 0.045 | 0 | 0 | |
| CYP2D6 | rs1065852 | C/T | C | Exon 1 | P34S | 0.775 | 0.667 | 0.500 | 0.211 | 0.167 |
| rs3892097 | G/A | G | Intron 3 | Splice-site/acceptor | 0.004 | NA | NA | 0.183 | 0 | |
| rs28371735 | C/T | C | Exon 9 | H478Y | 0.006 | NA | NA | NA | 0.042 | |
| rs1135835 | A/G | A | Exon 9 | T470A | 0.006 | NA | NA | NA | 0.042 | |
| rs1135840 | C/G | C | Exon 9 | T486S | 0.281 | 0.211 | 0.407 | 0.456 | 0.389 | |
| rs3915951 | G/T | G | Exon 7 | G329V | 0.002 | NA | NA | 0.380d | NA | |
| rs1058172 | G/A | G | Exon 7 | R314H | 0.007 | NA | NA | 0.280 | NA | |
| rs5030865 | G/A | Cc | Exon 3 | G169C | 0.011 | 0 | NA | 0 | 0 | |
| rs16947 | A/G | G | Exon 6 | C296R | 0.126 | 0.122 | 0.116 | 0.333 | 0.444 | |
| CYP2E1 | rs2031921 | T/C | T | 5′ promotor | NA | 0.214 | 0.188 | NA | 0.022 | 0.119 |
| rs3813865 | G/C | G | 5′ promotor | NA | 0.202 | 0.222 | 0.239 | 0.025 | 0.167 | |
| rs2070676 | C/G | G | Intron 7 | NA | 0.167 | 0.156 | 0.156 | 0.100 | 0.692 | |
| CYP3A4 | rs28371759 | T/C | T | Exon 10 | L293P | 0.029 | 0.044 | 0.023 | 0 | 0 |
| CYP3A5 | rs776741 | T/C | C | 5′ promotor | NA | 0.259 | 0.322 | 0.227 | 0.017 | 0.517 |
| rs776746 | G/A | A | Intron 3 | NA | 0.277 | 0.333 | 0.250 | 0.058 | 0.850 | |
| UGT2B7 | rs7668282 | T/C | T | 5′ promotor | NA | 0.040 | 0.080 | 0.058 | 0.008 | 0.053 |
| rs12233719 | G/T | G | Exon 1 | A71S | 0.151 | 0.125 | 0.148 | 0 | 0 | |
| rs7439366 | C/T | T | Exon 2 | Y268H | 0.222 | 0.278 | 0.318 | 0.500 | 0.008 | |
NA data not available
aInformation for ancestral allele was obtained from the dbSNP database on NCBI (http://www.ncbi.nlm.nih.gov/snp)
bThe population diversity data (Han Chinese, Japanese, Caucasian, and African) were obtained from the dbSNP database based on HapMap project (HapMap) or SNP500CANCER submission
cVariants of A/G were only observed in our study, while the ancestral allele for rs5030865 was reported to be C in the dbSNP database
dData derived from CEPH pedigree, Caucasians of Northern and Western European descent