Table 1.
Xenobiotic phase |
Gene | SNP | Base pair no. | Allelesb | Locationc | Typed | cDNA change |
Protein change |
MAF | HCFe |
---|---|---|---|---|---|---|---|---|---|---|
I | CYP1A1 15q22–24 5.99kb | rs2470893 | 72806502 | G/A | U | – | – | – | 0.30 | 0.13 |
rs1048943 | 72800038 | A/G | E | M | 1384A>G | Ile462Val | 0.04 | 0.35 | ||
rs1456432 | 72790104 | G/A | D | – | – | – | 0.16 | 0.44 | ||
CYP1A2 15q22-qter 7.76kb | rs2472299 | 72820453 | G/A | U | – | – | – | 0.28 | 0.27 | |
rs2470890 | 72834479 | C/T | E7 | S | 1548T>C | Asn516Asn | 0.37 | 0.68 | ||
rs11854147 | 72839824 | C/T | D | – | – | – | 0.33 | 0.61 | ||
CYP1B1 2p22-p21 8.55kb | rs4646429 | 38160439 | A/G | U | – | – | – | 0.32 | 0.31 | |
rs10012 | 38155894 | G/C | E2 | M | 142C>G | Arg48Gly | 0.32 | 0.33 | ||
rs1056836 | 38151707 | G/C | E3 | M | 1294C>G | Leu432Val | 0.42 | 0.25 | ||
rs163084 | 38144420 | T/C | D | – | – | – | 0.20 | 0.14 | ||
CYP2A6 19q13.2 6.90kb | rs4105144 | 46050464 | C/T | U | – | – | – | 0.32 | 0.25 | |
rs7250713 | 46047035 | C/G | I2 | – | – | – | 0.40 | 0.34 | ||
rs7246742 | 46037235 | G/T | D | – | – | – | 0.13 | 0.18 | ||
EPHX1 1q42.1 20.29kb | rs2854450 | 224079200 | C/T | U | – | – | – | 0.20 | 0.18 | |
rs1051740 | 224086256 | T/C | E3 | M | 337T>C | Tyr113His | 0.30 | 0.41 | ||
rs2234922 | 224093029 | A/G | E4 | M | 416A>G | His139Arg | 0.17 | 0.08 | ||
rs360063 | 224102932 | G/A | D | – | – | – | 0.44 | 0.48 | ||
II | NAT28p23.1-p21.3 9.97kb | rs1041983 | 18302075 | C/T | E2 | S | 282C>T | Tyr94Tyr | 0.33 | 0.31 |
rs1801280 | 18302134 | T/C | E2 | M | 341T>C | Ile114Thr | 0.44 | 0.32 | ||
rs1799929 | 18302274 | C/T | E2 | S | 481C>T | Leu161Leu | 0.42 | 0.32 | ||
rs1799930 | 18302383 | G/A | E2 | M | 590G>A | Arg197Gln | 0.30 | 0.18 | ||
rs1799931 | 18302650 | G/A | E2 | M | 857G>A | Gly286Glu | 0.04 | 0.13 | ||
GSTM1 | WT/null | – | Null | – | Null | 0.47 | 0.56 | |||
GSTT1 | WT/null | – | Null | – | Null | 0.20 | 0.13 |
HCF = Hispanic corresponding frequency to NHW minor allele; MAF = minor allele frequency in non-Hispanic white sample; WT = wild-type.
Ancestral allele/alternate allele.
U = upstream, E = exon, I = intron, D = downstream.
Type of mutation: M = missense; S = synonymous.
Values in bold = HCF significantly different from MAF [p < 0.01].