Supplementary Tables
Table S1. Human UGT1A1 gene mutations
UGT1A1*1 / Wild type / (Ritter et al., 1991)
UGT1A1*2 / 879 del 13 / Truncation / Exon 2 / (Ritter et al., 1992)
UGT1A1*3 / 1124 C>T / S375F / Exon 4 / (Bosma et al., 1992a)
UGT1A1*4 / 1069 C>T / Q357X / Exon 3 / (Bosma et al., 1992b)
UGT1A1*5 / 991 C>T / Q331 del 44 / Exon 2 / (Bosma et al., 1992a)
UGT1A1*6 / 211 G>A / G71R / Exon 1 / (Aono et al., 1993)
UGT1A1*7 / 1456 T>G / Y486D / Exon 5 / (Aono et al., 1993)
UGT1A1*8 / 625 T>C / R209W / Exon 1 / (Bosma et al., 1993)
UGT1A1*9 / 992 A>G / Q331R / Exon 2 / (Moghrabi et al., 1993a)
UGT1A1*10 / 1021 C>T / R341X / Exon 3 / (Moghrabi et al., 1993b)
UGT1A1*11 / 923 G>A / G308E / Exon 2 / (Erps et al., 1994; Labrune et al., 1994)
UGT1A1*12 / 524 T>A / L175Q / Exon 1 / (Seppen et al., 1994)
UGT1A1*13 / 508 del 3 / F170del / Exon 1 / (Ritter et al., 1993)
UGT1A1*14 / 826 G>T / G276R / Exon 1 / (Seppen et al., 1994)
UGT1A1*15 / 529 T>C / C177R / Exon 1 / (Seppen et al., 1994)
UGT1A1*16 / 1070 A>G / Q357R / Exon 3 / (Labrune et al., 1994)
UGT1A1*17 / 1143 C>G / S381R / Exon 4 / (Labrune et al., 1994)
UGT1A1*18 / 1201 G>C / A401P / Exon 4 / (Labrune et al., 1994)
UGT1A1*19 / 1005 G>A / W335X / Exon 3 / (Labrune et al., 1994)
UGT1A1*20 / 1102 G>A / A368T / Exon 4 / (Labrune et al., 1994)
UGT1A1*21 / 1223 ins G / Frameshift / Exon 4 / (Labrune et al., 1994)
UGT1A1*22 / 875 C>T / A291V / Exon 2 / (Labrune et al., 1994)
UGT1A1*23 / 1282 A>G / K426E / Exon 4 / (Labrune et al., 1994)
UGT1A1*24 / 1309 A>T / K437X / Exon 5 / (Labrune et al., 1994)
UGT1A1*25 / 840 C>A / C280X / Exon 1 / (Aono et al., 1994)
UGT1A1*26 / 973 del G / Frameshift / Exon 2 / (Seppen et al., 1994)
UGT1A1*27 / 686 C>A / P229Q / Exon 1 / (Koiwai et al., 1995)
UGT1A1*28 / TAATA7 / Transcription / Promoter / (Bosma et al., 1995)
UGT1A1*29 / 1099 C>G / R367G / Exon 4 / (Koiwai et al., 1995)
UGT1A1*30 / 44 T>G / L15R / Exon 1 / (Seppen et al., 1996)
UGT1A1*31 / 1159-60 CC>GT / 2 nt missense / Exon 4 / (Tukey & Strassburg, 2000)
UGT1A1*32 / 1006 C>T / R336W / Exon 3 / (Ciotti et al., 1998)
UGT1A1*33 / 881 T>C / I294T / Exon 2 / (Ciotti et al., 1998)
715 C>T / Q239X / Exon 1 / (Nong et al., 2005)
686 C>T / P229L / Exon 1 / (Kaniwa et al., 2005)
1007 G>A / R336Q / Exon 3 / (Servedio et al., 2005)
1184G>T / G395V / Exon 4 / (Servedio et al., 2005)
1159 C>T / P387S / Exon 4 / (Servedio et al., 2005)
801 del C / Frameshift / Exon 1 / (Servedio et al., 2005)
576 C>G / Y192X / Exon 1 / (Servedio et al., 2005)
1060 T>C / W354R / Exon 3 / (Servedio et al., 2005)
111 C>A / P34Q / Exon 1 / (Servedio et al., 2005)
1207 C>T / R403C / Exon 4 / (Servedio et al., 2005)
865-1G>A / Splicing aberration / (Servedio et al., 2005)
1304+1G>T / Splicing aberration / (Servedio et al., 2005)
1433 C>A / A478D / (Servedio et al., 2005)
-3440 C>A / PBREM1 / (Innocenti et al., 2002)
-3401 T>C / PBREM / (Innocenti et al., 2002)
-3279 G>T / PBREM / (Innocenti et al., 2002)
-3177 C>G / PBREM / (Innocenti et al., 2002)
-3175 A>G / PBREM / (Innocenti et al., 2002)
-3156 G>A / PBREM / (Innocenti et al., 2002)
I1 G>C, splice donor site / Intron 1 / (Gantla et al., 1998)
I3 A>G, splice acceptor site / Intron 3 / (Gantla et al., 1998)
I4 G>A, splice acceptor site / Intron 4 / (Sappal et al., 2002)
877 T>A+878 del 13 / Truncation / Exon 2 / (Sappal et al., 2002)
717 del 2 / Frameshift / Exon 1 / (Iolascon et al., 2000)
1130 C>T / S375F / Exon 4 / (Seppen et al., 1994)
1381 T>C / W461R / Exon 5 / (Maruo et al., 2003)
670 T>G / V224G / Exon 1 / (Iolascon et al., 2000)
1091 C>T / P364L / Exon 4 / (Huang et al., 2000)
1456 T>G / Y486D / Exon 5 / (Tukey & Strassburg, 2000)
1PBREM: Phenobarbital – responsive enhancer module
Table S2. UGT1A3 mutations
Nucleotide change / Protein change / Reference / Study subjects / Allele frequency17 A>G / Q6R / (Iwai et al., 2004) / 100 healthy Japanese / 0.055
31 T>C / W11R / (Iwai et al., 2004) / 100 healthy Japanese / 0.28
(Ehmer et al., 2004) / 235 healthy German Caucasoid / 0.44
129 hepatocellular carcinoma patients, German Caucasoid / 0.5
81 G>A / E27E (silent) / (Iwai et al., 2004) / 100 healthy Japanese / 0.28
(Ehmer et al., 2004) / 235 healthy German Caucasoid / 0.44
129 hepatocellular carcinoma patients, German Caucasoid / 0.5
133 C>T / R45W / (Iwai et al., 2004) / 100 healthy Japanese / 0.11
140 T>C / V47A / (Iwai et al., 2004) / 100 healthy Japanese
(Ehmer et al., 2004) / 235 healthy German Caucasoid / 0.35
129 hepatocellular carcinoma patients, German Caucasoid / 0.41
477 A>G / A159A (silent) / (Iwai et al., 2004) / 100 healthy Japanese / 0.28
Table S3. UGT1A4 mutations
Study: UGT1A4 polymorphisms in German controls and HCC cases (Ehmer et al., 2004)Nucleotide change / Protein change / Allele frequency
Healthy controls
(n = 235) / HCC patients
(n = 129)
70 C>A / P24T / 0.08 / 0.07
142 T>G / L48V / 0.09 / 0.10
Studies: UGT1A4 polymorphisms in Japanese controls and cancer patients (Saeki et al., 2005a) + UGT1A4 polymorphisms in Japanese controls and Clozapine glucuronidation (Mori et al., 2005)
Nucleotide change / Protein change / Frequencya
Healthy controls
(n = 60) / Cancer patients
(n = 88)
-219 C>T / 0.133 / 0.142
-217 T>G* / 0 / 0
-163 G>A / 0.133 / 0.142
-36 G>A / 0 / 0.006
30 G>A* / P10P (silent) / 0 / 0
31 C>T / R11W / 0.025 / 0.011
127 del* / Frameshift / 0 / 0
142 T>G / L48V / 0.133 (0.165, n = 200b) / 0.148
175 del* / Frameshift / 0 / 0
271 C>T* / R91C / 0 / 0
325 A>G* / R109G / 0 / 0
357 T>C / N119N (silent) / 0.008 / 0.006
448 T>C / L150L (silent) / 0.133 (0.155, n = 200b) / 0.142
471 C>T / C157C (silent) / 0.008 / 0.011
804 G>A / P268P (silent) / 0.133 (0.165, n = 200b) / 0.142
I1+1 G>T* / 0 / 0
I1+43 C>T / 0.133 (0.155, n = 200b) / 0.142
I1+98 A>G / 0 / 0.006
I1+101G>T / 0.008 / 0.006
a All data are reported from the study by Saeki et al, except where indicated otherwise.
b Numbers in parentheses were obtained from the study by Mori et al.
* These polymorphisms were observed in a sub-population of arrhythmic patients in the study by Saeki et al.
Table S4. UGT1A6 mutations
Nucleotide change / Protein change / Reference-1951 G>A / (Krishnaswamy et al., 2005)
-1710 C>G / (Krishnaswamy et al., 2005)
-1535 G>A / (Krishnaswamy et al., 2005)
-1377 G>A / (Krishnaswamy et al., 2005)
-1310 del / (Krishnaswamy et al., 2005)
-652 G>A / (Krishnaswamy et al., 2005)
-556 C>T / (Krishnaswamy et al., 2005)
-427 G>C / (Krishnaswamy et al., 2005)
19 T>G / S7A / (Nagar et al., 2004)
105 C>T / D35D (silent) / (Saeki et al., 2005b)
269 G>A / R90H / (Saeki et al., 2005b)
279 A>G / S93S (silent) / (Saeki et al., 2005b)
308 C>A / S103X / (Saeki et al., 2005b)
315 A>G / L105L (silent) / (Nagar et al., 2004)
541 A>G / T181A / (Ciotti et al., 1997)
552 A>C / R184S / (Ciotti et al., 1997)
627 G>T / V209V (silent) / (Saeki et al., 2005b)
I1+109 C>T / (Saeki et al., 2005b)
I1+120 A>G / (Saeki et al., 2005b)
I1+130 G>T / (Saeki et al., 2005b)
I1+142 C>T / (Saeki et al., 2005b)
Table S5. UGT1A6 haplotypes
Haplotype / Polymorphisms / Frequency / Ref*1
*2
*3
*4 / 19T / 315A / 541A / 552A
19G / 315G / 541C / 552C
19G
19G / 315G / 552C / Caucasian
0.617
0.274
0.057
0.052 / African American
0.608
0.243
0.10
0.047 / (Nagar et al., 2004)
*1A
*1B
*1C
*1D
*2
*3A
*3B
*4
*5 / -1710C/-1535G/-1377G/- 1310[AGGAG]/-652G/-427G/19T/315A/541A/552A
-1535A/-427C
-427C
-1535A/-1377A/-427C
-1710G/-1377A/- 1310[-]/-652A/19G/315G/541G/552C
-1710G/-1377A/- 1310[-]/-652A/19G
-1710G/-1377A/- 1310[-]/-652A/19G/315G
-1710G/-1377A/- 1310[-]/-652A/315G/552C
541G / 0.40
0.19
0.02
0.01
0.31
0.05
0.01
0.01
0.01 / (Krishnaswamy et al., 2005)
*1A
*1B
*1C
*1D
*2A
*2B
*2C
*2D
*4A
*5A
*6A / 19T/105C/269G/279A/308C/315A/541A/552A/627G/I1+109C/I1+120A/I1+130G/I1+142C
105T
I1+120G
I1+142T
19G/315G/541G/552C/I1+130T
19G/315G/541G/552C
19G/315G/541G/552C/I1+109T/ I1+130T
19G/315G/541G/552C/I1+130T
19G/315G/552C/627T
19G/308A/315G/541G/552C/I1+130T
19G/269A/315G/541G/552C/I1+130T / 0.726
0.044
0.003
0.003
0.197
0.010
0.003
0.003
0.008
0.003
0.003 / (Saeki et al., 2005b)
Table S6. UGT1A7 mutations and haplotypes
Nucleotide change / Protein change / Reference-57 T>G / (Huang et al., 2005; Lankisch et al., 2005)
33 C>A / 11, silent / (Guillemette et al., 2000)
343 G>A / G115S / (Villeneuve et al., 2003)
387 T>G / N129K / (Guillemette et al., 2000)
391 C>A / R131K / (Guillemette et al., 2000)
391 C>A + 392 G>A / R131K / (Guillemette et al., 2000)
392 G>A / R131Q / (Verlaan et al., 2005)
514 G>C / E139D / (Villeneuve et al., 2003)
622 T>C / W208R / (Guillemette et al., 2000)
756 G>A / 252, silent / (Guillemette et al., 2000)
Haplotype / Polymorphisms / Frequency / Reference
*1
*2
*3
*4 / N129/R131/W208
K129/K131/W208
K129/K131/R208
N129/R131/R208 / 0.358
0.264
0.361
0.017 / (Guillemette et al., 2000)
*5
*6
*7
*8
*9 / S115
D139
K129/K131/D139
K129/K131/D139/R208
S115/K129/K131 / 0.005
0.002
0.021
0.002
0.003 / (Villeneuve et al., 2003)
*10 / R129/K131/R208 / 0.006 / (van der Logt et al., 2004)
*11 / Q131 / 0.0004 / (Verlaan et al., 2005)
Table S7. UGT1A9 mutations and haplotypes
Nucleotide change / Protein change / Reference-2208 C>T / (Girard et al., 2004)
-2152 C>T / (Girard et al., 2004)
-2141 C>T / (Girard et al., 2004)
-1887 T>C / (Girard et al., 2004)
-665 C>T / (Girard et al., 2004)
-440 T>C / (Girard et al., 2004)
-331 C>T / (Girard et al., 2004)
-275 T>A / (Girard et al., 2004)
-109 to -98 A(T)nAT; n=9/10 / (Yamanaka et al., 2004)
-87 G>A / (Carlini et al., 2005; Girard et al., 2004)
8 G>A / C3Y / (Villeneuve et al., 2003)
98 T>C / M33T / (Villeneuve et al., 2003)
153 G>A / R51R (silent) / (Saeki et al., 2003)
588 G>T / G196G / (Saeki et al., 2003)
726 T>G / Y242X / (Saeki et al., 2003)
766 G>A / D256N / (Jinno et al., 2003)
I143 C>T / (Carlini et al., 2005)
I152 G>A / (Carlini et al., 2005)
I219 A>T / (Carlini et al., 2005)
I313 C>A / (Carlini et al., 2005)
Haplotype / Polymorphisms / Frequency / Reference
Mixed / French-Canadian Caucasian
1 / -2208C/-2152C/-2141C/-1887T/-1818T/-665C/-440T/-331C/-275T/-109 to -98 n = 9/-87G/98T / 0.35 / 0.26 / (Girard et al., 2004)
2 / -665T/-440C/-331T/ A(T)10AT / 0.11 / 0
3 / -1818C/-665T/-440C/-331T/ A(T)10AT / 0.09 / 0.05
4 / -1887G/-440C/-331T / 0.07 / 0.20
5 / -2152T/-665T/-440C/-331T/-275A / 0.07 / 0
6 / -1818C/-440C/-331T/ A(T)10AT / 0.07 / 0.07
7 / -1818C/-665T/-440C/-331T / 0.07 / 0
8 / -440C/-331T / 0.05 / 0.04
9 / -1887G/-665T/-440C/-331T / 0.04 / 0
10 / -87A / 0.04 / 0.04
11 / -440C/-331T/ A(T)10AT / 0.03 / 0.22
12 / -1818C/-440C/-331T / 0.01 / 0.03
13 / -2152T/-440C/-331T/-275A / 0 / 0.06
14 / -1818C/-440C/-331T/98C / 0 / 0.03
HI / A(T)10AT/-87G/I143C/I152G/I219A/I313C / 0.432 / (Carlini et al., 2005)
HII / A(T)9AT/-87G/I143C/I152G/I219T/I313A / 0.341
HIII / A(T)9AT/-87G/I143C/I152A/I219T/I313A / 0.174
HIV / A(T)9AT/-87A/I143C/I152G/I219T/I313A / 0.03
HV / A(T)9AT/-87G/I143T/I152G/I219T/I313A / 0.023
Table S8. UGT1A10 mutations
Nucleotide change / Protein change / Reference124 G>A / Silent / (Elahi et al., 2003)
177 G>A / M59I / (Saeki et al., 2002)
415 G>A / E139K / (Elahi et al., 2003)
595 C>G / Silent / (Elahi et al., 2003)
597 T>C / Silent / (Elahi et al., 2003)
605 C>T / T202I / (Saeki et al., 2002)
693 C>T / A231A (silent) / (Saeki et al., 2002)
719 C>T / T240M / (Elahi et al., 2003)
730 C>A / L244I / (Elahi et al., 2003)
Table S9. UGT2B4 mutations
Nucleotide change / Protein change / Frequency / Reference-1255A>C / 0.151 / (Saeki et al., 2004)
-162 T>G / 0.169 / (Saeki et al., 2004)
I2+44 C>T / 0.004 / (Saeki et al., 2004)
I3-13_6 del / 0.033 / (Saeki et al., 2004)
I4+61 T>C / 0.434 / (Saeki et al., 2004)
I4+109_114 del / 0.004 / (Saeki et al., 2004)
I4+145 C>T / 0.015 / (Saeki et al., 2004)
I4+146 G>A / 0.044 / (Saeki et al., 2004)
I4+161_162 ins / 0.511 / (Saeki et al., 2004)
1212 A>T / A404A / 0.052 / (Saeki et al., 2004)
I5-83 G>C / 0.055 / (Saeki et al., 2004)
I5-52 C>T / 0.004 / (Saeki et al., 2004)
1364 A>G / K455R / 0.004 / (Saeki et al., 2004)
1374 T>A / D458E / 0.004a (n=136); 0b (n=32);0.253c (n=202) / (Levesque et al., 1999)
1375 C>A / R459R / 0.004 / (Levesque et al., 1999)
1531 T>C / C511R / 0.004 / (Saeki et al., 2004)
a Japanese population (Saeki et al., 2004)
b Asian population (Lampe et al., 2000)
c Caucasian population (Lampe et al., 2000)
Table S10. UGT2B7 mutations
Nucleotide change / Protein change / Frequency / Reference-1302 A>G / 0.707 / (Hirota et al., 2003)
-1295 T>C / 0.707 / (Hirota et al., 2003)
-1246 A>G / 0.35 / (Holthe et al., 2003)
-1239 T>C / 0.35 / (Holthe et al., 2003)
-1111 T>C / 0.707 / (Hirota et al., 2003)
-1052 T>C / 0.35 / (Holthe et al., 2003)
-899 G>A / 0.707 / (Hirota et al., 2003)
-840 G>A / 0.35 / (Holthe et al., 2003)
-327 G>A / 0.707 / (Hirota et al., 2003)
-268 A>G / 0.39 / (Holthe et al., 2003)
-161 C>T / 0.087 / (Hirota et al., 2003)
-125 T>C / 0.707 / (Hirota et al., 2003)
-102 T>C / 0.44 / (Holthe et al., 2003)
-79 G>A / 0.002 / (Duguay et al., 2004)
-66 C>T / 0.001 / (Duguay et al., 2004)
211 G>T / A71S / 0.185 / (Hirota et al., 2003)
372 A>G / R172R / 0.228a; 0.03b / (Hirota et al., 2003; Holthe et al., 2003)
I1+109 del A / 0.022 / (Hirota et al., 2003)
735 A>G / T245T / 0.89 / (Holthe et al., 2003)
801 T>A / P267P / 0.489c; 0.268d / (Bhasker et al., 2000)
802 C>T / H268Y / 0.489c; 0.268d / (Bhasker et al., 2000)
I2+11 A>G / 0.254 / (Saeki et al., 2004)
I2+148 A>G / 0.254 / (Saeki et al., 2004)
915 G>A / V305V / 0.004 / (Saeki et al., 2004)
I3-116 A>G / 0.257 / (Saeki et al., 2004)
I3-114G>A / 0.217 / (Saeki et al., 2004)
1059 C>G / L353L / 0.707a; 0.39b / (Hirota et al., 2003; Holthe et al., 2003)
1062 C>T / Y354Y / 0.065a; 0.14b / (Hirota et al., 2003; Holthe et al., 2003)
I4+64 T>A / 0.257 / (Saeki et al., 2004)
I4+154 ins A / 0.257 / (Saeki et al., 2004)
I4+185 C>A / 0.398 / (Saeki et al., 2004)
I4-154 G>C / 0.257 / (Saeki et al., 2004)
I4-129 T>C / 0.257 / (Saeki et al., 2004)
1192 G>A / D398N / 0.004 / (Saeki et al., 2004)
a Japanese healthy population, n = 46 (Hirota et al., 2003)
b Norwegian cancer patients, n = 239 (Holthe et al., 2003)
c Caucasian healthy subjects, n = 63 (Bhasker et al., 2000)
d Japanese healthy subjects, n = 84 (Bhasker et al., 2000)
Supplementary references:
Aono S, Yamada Y, Keino H, Hanada N, Nakagawa T, Sasaoka Y, Yazawa T, Sato H and Koiwai O. (1993). Biochem Biophys Res Commun, 197, 1239-44.
Aono S, Yamada Y, Keino H, Sasaoka Y, Nakagawa T, Onishi S, Mimura S, Koiwai O and Sato H. (1994). Pediatr Res, 35, 629-32.
Bhasker CR, McKinnon W, Stone A, Lo AC, Kubota T, Ishizaki T and Miners JO. (2000). Pharmacogenetics, 10, 679-85.
Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP and et al. (1995). N Engl J Med, 333, 1171-5.
Bosma PJ, Chowdhury JR, Huang TJ, Lahiri P, Elferink RP, Van Es HH, Lederstein M, Whitington PF, Jansen PL and Chowdhury NR. (1992a). Faseb J, 6, 2859-63.
Bosma PJ, Chowdhury NR, Goldhoorn BG, Hofker MH, Oude Elferink RP, Jansen PL and Chowdhury JR. (1992b). Hepatology, 15, 941-7.
Bosma PJ, Goldhoorn B, Oude Elferink RP, Sinaasappel M, Oostra BA and Jansen PL. (1993). Gastroenterology, 105, 216-20.
Carlini LE, Meropol NJ, Bever J, Andria ML, Hill T, Gold P, Rogatko A, Wang H and Blanchard RL. (2005). Clin Cancer Res, 11, 1226-36.
Ciotti M, Chen F, Rubaltelli FF and Owens IS. (1998). Biochim Biophys Acta, 1407, 40-50.
Ciotti M, Marrone A, Potter C and Owens IS. (1997). Pharmacogenetics, 7, 485-95.
Duguay Y, Baar C, Skorpen F and Guillemette C. (2004). Clin Pharmacol Ther, 75, 223-33.
Ehmer U, Vogel A, Schutte JK, Krone B, Manns MP and Strassburg CP. (2004). Hepatology, 39, 970-7.
Elahi A, Bendaly J, Zheng Z, Muscat JE, Richie JP, Jr., Schantz SP and Lazarus P. (2003). Cancer, 98, 872-80.
Erps LT, Ritter JK, Hersh JH, Blossom D, Martin NC and Owens IS. (1994). J Clin Invest, 93, 564-70.
Gantla S, Bakker CT, Deocharan B, Thummala NR, Zweiner J, Sinaasappel M, Roy Chowdhury J, Bosma PJ and Roy Chowdhury N. (1998). Am J Hum Genet, 62, 585-92.
Girard H, Court MH, Bernard O, Fortier LC, Villeneuve L, Hao Q, Greenblatt DJ, von Moltke LL, Perussed L and Guillemette C. (2004). Pharmacogenetics, 14, 501-15.
Guillemette C, Ritter JK, Auyeung DJ, Kessler FK and Housman DE. (2000). Pharmacogenetics, 10, 629-44.
Hirota T, Ieiri I, Takane H, Sano H, Kawamoto K, Aono H, Yamasaki A, Takeuchi H, Masada M, Shimizu E, Higuchi S and Otsubo K. (2003). Drug Metab Dispos, 31, 677-80.
Holthe M, Rakvag TN, Klepstad P, Idle JR, Kaasa S, Krokan HE and Skorpen F. (2003). Pharmacogenomics J, 3, 17-26.
Huang CS, Luo GA, Huang ML, Yu SC and Yang SS. (2000). Pharmacogenetics, 10, 539-44.
Huang MJ, Yang SS, Lin MS and Huang CS. (2005). World J Gastroenterol, 11, 797-802.
Innocenti F, Grimsley C, Das S, Ramirez J, Cheng C, Kuttab-Boulos H, Ratain MJ and Di Rienzo A. (2002). Pharmacogenetics, 12, 725-33.
Iolascon A, Meloni A, Coppola B and Rosatelli MC. (2000). J Med Genet, 37, 712-3.
Iwai M, Maruo Y, Ito M, Yamamoto K, Sato H and Takeuchi Y. (2004). J Hum Genet, 49, 123-8.
Jinno H, Saeki M, Saito Y, Tanaka-Kagawa T, Hanioka N, Sai K, Kaniwa N, Ando M, Shirao K, Minami H, Ohtsu A, Yoshida T, Saijo N, Ozawa S and Sawada J. (2003). J Pharmacol Exp Ther, 306, 688-93.
Kaniwa N, Kurose K, Jinno H, Tanaka-Kagawa T, Saito Y, Saeki M, Sawada J, Tohkin M and Hasegawa R. (2005). Drug Metab Dispos, 33, 458-65.
Koiwai O, Nishizawa M, Hasada K, Aono S, Adachi Y, Mamiya N and Sato HA. (1995). Hum Mol Genet, 4, 1183-6.
Krishnaswamy S, Hao Q, Al-Rohaimi A, Hesse LM, von Moltke LL, Greenblatt DJ and Court MH. (2005). J Pharmacol Exp Ther, 313, 1331-9.
Labrune P, Myara A, Hadchouel M, Ronchi F, Bernard O, Trivin F, Chowdhury NR, Chowdhury JR, Munnich A and Odievre M. (1994). Hum Genet, 94, 693-7.
Lampe JW, Bigler J, Bush AC and Potter JD. (2000). Cancer Epidemiol Biomarkers Prev, 9, 329-33.
Lankisch TO, Vogel A, Eilermann S, Fiebeler A, Krone B, Barut A, Manns MP and Strassburg CP. (2005). Mol Pharmacol, 67, 1732-9.
Levesque E, Beaulieu M, Hum DW and Belanger A. (1999). Pharmacogenetics, 9, 207-16.
Maruo Y, Serdaroglu E, Iwai M, Takahashi H, Mori A, Bak M, Calkavur S, Sato H and Takeuchi Y. (2003). J Pediatr Gastroenterol Nutr, 37, 627-30.
Moghrabi N, Clarke DJ, Boxer M and Burchell B. (1993a). Genomics, 18, 171-3.
Moghrabi N, Clarke DJ, Burchell B and Boxer M. (1993b). Am J Hum Genet, 53, 722-9.
Mori A, Maruo Y, Iwai M, Sato H and Takeuchi Y. (2005). Drug Metab Dispos, 33, 672-5.
Nagar S, Zalatoris JJ and Blanchard RL. (2004). Pharmacogenetics, 14, 487-99.
Nong SH, Xie YM, Chan KW and Cheung PT. (2005). J Paediatr Child Health, 41, 300-2.
Ritter JK, Chen F, Sheen YY, Tran HM, Kimura S, Yeatman MT and Owens IS. (1992). J Biol Chem, 267, 3257-61.
Ritter JK, Crawford JM and Owens IS. (1991). J Biol Chem, 266, 1043-7.
Ritter JK, Yeatman MT, Kaiser C, Gridelli B and Owens IS. (1993). J Biol Chem, 268, 23573-9.
Saeki M, Ozawa S, Saito Y, Jinno H, Hamaguchi T, Nokihara H, Shimada Y, Kunitoh H, Yamamoto N, Ohe Y, Yamada Y, Shirao K, Muto M, Mera K, Goto K, Ohmatsu H, Kubota K, Niho S, Kakinuma R, Minami H, Ohtsu A, Yoshida T, Saijo N and Sawada J. (2002). Drug Metab Pharmacokinet, 17, 488-90.
Saeki M, Saito Y, Jinno H, Sai K, Hachisuka A, Kaniwa N, Ozawa S, Kawamoto M, Kamatani N, Shirao K, Minami H, Ohtsu A, Yoshida T, Saijo N, Komamura K, Kotake T, Morishita H, Kamakura S, Kitakaze M, Tomoike H and Sawada J. (2005a). Drug Metab Pharmacokinet, 20, 144-51.
Saeki M, Saito Y, Jinno H, Sai K, Kaniwa N, Ozawa S, Komamura K, Kotake T, Morishita H, Kamakura S, Kitakaze M, Tomoike H, Shirao K, Minami H, Ohtsu A, Yoshida T, Saijo N, Kamatani N and Sawada J. (2005b). Drug Metab Pharmacokinet, 20, 85-90.
Saeki M, Saito Y, Jinno H, Sai K, Komamura K, Ueno K, Kamakura S, Kitakaze M, Shirao K, Minami H, Ohtsu A, Yoshida T, Saijo N, Ozawa S and Sawada J. (2003). Drug Metab Pharmacokinet, 18, 146-9.
Saeki M, Saito Y, Jinno H, Tanaka-Kagawa T, Ohno A, Ozawa S, Ueno K, Kamakura S, Kamatani N, Komamura K, Kitakaze M and Sawada J. (2004). Drug Metab Dispos, 32, 1048-54.
Sappal BS, Ghosh SS, Shneider B, Kadakol A, Chowdhury JR and Chowdhury NR. (2002). Mol Genet Metab, 75, 134-42.
Seppen J, Bosma PJ, Goldhoorn BG, Bakker CT, Chowdhury JR, Chowdhury NR, Jansen PL and Oude Elferink RP. (1994). J Clin Invest, 94, 2385-91.
Seppen J, Steenken E, Lindhout D, Bosma PJ and Elferink RP. (1996). FEBS Lett, 390, 294-8.
Servedio V, d'Apolito M, Maiorano N, Minuti B, Torricelli F, Ronchi F, Zancan L, Perrotta S, Vajro P, Boschetto L and Iolascon A. (2005). Hum Mutat, 25, 325.
Tukey RH and Strassburg CP. (2000). Annu Rev Pharmacol Toxicol, 40, 581-616.
van der Logt EM, Bergevoet SM, Roelofs HM, van Hooijdonk Z, te Morsche RH, Wobbes T, de Kok JB, Nagengast FM and Peters WH. (2004). Carcinogenesis, 25, 2407-15.
Verlaan M, Drenth JP, Truninger K, Koudova M, Schulz HU, Bargetzi M, Kunzli B, Friess H, Cerny M, Kage A, Landt O, te Morsche RH, Rosendahl J, Luck W, Nickel R, Halangk J, Becker M, Macek M, Jr., Jansen JB and Witt H. (2005). J Med Genet, 42, e62.
Villeneuve L, Girard H, Fortier LC, Gagne JF and Guillemette C. (2003). J Pharmacol Exp Ther, 307, 117-28.
Yamanaka H, Nakajima M, Katoh M, Hara Y, Tachibana O, Yamashita J, McLeod HL and Yokoi T. (2004). Pharmacogenetics, 14, 329-32.
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