Copyright
©2014 Baishideng Publishing Group Inc.
World J Gastroenterol. Aug 7, 2014; 20(29): 9775-9827
Published online Aug 7, 2014. doi: 10.3748/wjg.v20.i29.9775
Published online Aug 7, 2014. doi: 10.3748/wjg.v20.i29.9775
dbSNP rs cluster ID | Type of polymorphism | Function | Ref. |
Thymidylate synthase (TYMS) (OMIM # 188350) | |||
rs45445694 | VNTR | [43-51,68,409-413] | |
TSER*2/ TSER*3 | TSER polymorphism (TS 2R/3R repeat) is a tandem repeat upstream of the TYMS translational start site containing either double (2R) or triple (3R) repeats of 28-bp sequences | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 45445694 | |||
rs34743033 | SNP | [44-46,49,50,414] | |
TSER*3G>C | TSER*2/*3 repeat is studied together with a G to C SNP within the second repeat of the TSER*3 allele | ||
TSER*3C allele = decrease transcriptional activity of TYMS | |||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 34743033 | |||
rs151264360 | Del/Ins | [44,46,49,51,72,415] | |
TS 1494del6bp | -6-bp deletion, decreased stability of TS mRNA | ||
+6-bp insertion, increased stability of TS mRNA | |||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 151264360 | |||
Methylenetetrahydrofolate reductase (MTHFR) (OMIM # 607093) | |||
rs1801133 | SNP | [66-69,72,313,316,362] | |
677C>T | At codon 222 in exon 4 (Ala → Val) | ||
Reduces enzymatic activity and increased thermolability | |||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 1801133 | |||
rs1801131 | SNP | [67-69,72,313,316] | |
1298A>C | At codon 429 in exon 7 (Glu → Ala) | ||
Reduces MTHFR activity | |||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 1801131 | |||
rs4846051a | SNPs | [71,416] | |
1305T>C | At codon 435 (synonymous), effect unknown | ||
rs201095365b | 1798G>A | At codon 600 (Glu → Lys), effect unknown | |
ahttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 4846051 | |||
bhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 201095365 | |||
Dihydropyrimidine dehydrogenase (DPYD) (OMIM # 612779) | |||
rs3918290 | SNP | [88,412,417,418] | |
IVS14+1G>A | Exon 14 is skipped as a result of the G → A translocation at intron 14, inactive enzyme is formed | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 3918290 | |||
rs75017182 | SNP | [92,419] | |
c.1129– 5923C>G | Cryptic splice donor site leads to a 44 bp fragment of intron 10 insert in mrna, frameshift and premature stop codon in exon 11 | ||
Associated with toxicity | |||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 75017182 | |||
- | SNPs | [92,417] | |
IVS5+18G>A | G → A translocation at intron 5, effect unknown | ||
IVS6+139G>A | G → A translocation at intron 6, effect unknown | ||
IVS9–51T>G | T → G translocation at intron 9, effect unknown | ||
rs1801265 | SNP | [85,420-424] | |
85T>C | At codon 29 in exon 2 (Cys → Arg) | ||
Decreased expression | |||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 1801265 | |||
rs2297595 | SNP | [420,421,424-427] | |
496A>G | At codon 166 in exon 6 (Met → Val) | ||
Significantly conserved site close to the Fe-S motif, may disrupt electron transport | |||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 2297595 | |||
rs1801159 | SNP | [421,424,427-430] | |
1627A>G | At codon 543 in exon 13 (Ile → Val) | ||
Decreased expression | |||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 1801159 | |||
rs55886062 | SNP | [92,422,431-434] | |
1679T>G | At codon 560 in exon 13 (Ile → Ser) | ||
Might destabilize FMN (flavine mononucleotide) binding domain | |||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 55886062 | |||
rs1801160 | SNP | [424,428] | |
2194G>A | At codon 732 in exon 18 (Val → Ile) | ||
Decreased expression | |||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 1801160 | |||
rs67376798 | SNP | [92,412,417,422,425,426, 432,435-437] | |
2846A>T | At codon 949 in exon 22 (Asp → Val) | ||
Significantly conserved site near the Fe-S motif, may disrupt cluster formation and electron transport and lead to lower DPD activity | |||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 67376798 | |||
Uridine monophosphate synthetase (UMPS) [OMIM #613891] | |||
rs121917890a | SNPs | [122-126] | |
213A>G | At codon 96 (Arg → Gly), effect unknown | ||
rs121917892b | 326T>G | At codon 109 (Val → Gly), effect unknown | |
rs1801019c | 638G>C | At codon 213 (Gly → Ala), increase activity | |
rs2291078d | 1050T>A | At codon 350 (synonymous), effect unknown | |
rs121917891e | 1285G>C | At codon 429 (Gly → Arg), effect unknown | |
rs3772809f | 1336A>G | At codon 446 (Ile → Val), effect unknown | |
ahttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 121917890 | |||
bhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 121917892 | |||
chttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 1801019 | |||
dhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 2291078 | |||
ehttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 121917891 | |||
fhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 3772809 |
Treatment setting | Method | Patients (n) | Better response to chemotherapy | Form of the disease | Ref. |
Thymidylate synthase (TYMS) [OMIM # 188350] | |||||
5-FU | RT-PCR | 29 | Low expression | mCRC | Iyevleva et al[24] |
5-FU | RT-PCR | 39 | Low expression | CRC | Ishida et al[25] |
5-FU | IHC | 57 | Low expression | mCRC | Hosokawa et al[26] |
5-FU | IHC | 62 | Low expression | aCRC | Ciaparrone et al[27] |
5-FU | RT-PCR | 92 | Low expression | CRC | Nakajima et al[28] |
5-FU | RT-PCR | 309 | Low expression | CRC | Kornmann et al[29] |
5-FU | IHC | 391 | Not significant | aCRC | Westra et al[438] |
5-FU | IHC | 945 | Not significant | CRC | Soong et al[107] |
FUdR | IHC | 36 | Low expression | mCRC | Davies et al[31] |
5-FU/LV or 5-FU | RT-PCR | 29 | Low expression | mCRC | Kornmann et al[32] |
5-FU/LV | RT-PCR | 33 | Low expression | aCRC | Salonga et al[17] |
5-FU/LV | RT-PCR | 36 | Low expression | mCRC | Lenz et al[7] |
5-FU/LV | RT-PCR | 42 | Low expression | CRC | Leichman et al[19] |
5-FU/LV | RIA | 102 | Low expression | mCRC | Etienne et al[33] |
5-FU/OX | RT-PCR | 45 | Low expression | aCRC | Shirota et al[34] |
5-FU/MTX | IHC | 108 | Low expression | aCRC | Paradiso et al[35] |
5-FU or 5-FU/MTX or 5-FU/LV | IHC | 24 | Not significant | aCRC | Belvedere et al[439] |
5-FU or 5-FU/MTX or 5-FU/LV | IHC | 27 | Not significant | mCRC | Aschele et al[23] |
5-FU or 5-FU/MTX or 5-FU/LV | IHC | 48 | Low expression | mCRC | Aschele et al[36] |
5-FU/LV/CPT-11 | RT-PCR | 13 | Low expression | aCRC | Yanagisawa et al[37] |
5-FU/LV/CPT-11 | IHC | 54 | Low expression | aCRC | Bendardaf et al[38] |
5-FU/LV/CPT-11 | IHC | 57 | Not significant | aCRC | Paradiso et al[440] |
UFT/LV | RT-PCR | 37 | Low expression | mCRC | Ichikawa et al[39] |
Capecitabine | RT-PCR | 37 | Not significant | aCRC | Vallböhmer et al[97] |
Capecitabine | IHC | 39 | Not significant | CRC | Lindebjerg et al[441] |
Capecitabine/CPT-11 | IHC | 556 | Not significant | aCRC | Koopman et al[110] |
5-FU-based therapy | IHC | 681 | Not significant | CRC | Karlberg et al[442] |
Dihydropyrimidine dehydrogenase (DPYD) (OMIM # 612779) | |||||
5-FU | RT-PCR | 29 | Not significant | mCRC | Iyevleva et al[24] |
5-FU | RT-PCR | 39 | Not significant | CRC | Ishida et al[25] |
5-FU | IHC | 62 | Low expression | aCRC | Ciaparrone et al[27] |
5-FU | IHC | 303 | Low expression | CRC | Jensen et al[443] |
5-FU | RT-PCR | 309 | Low expression | CRC | Kornmann et al[29] |
5-FU | IHC | 391 | Not significant | aCRC | Westra et al[438] |
5-FU | IHC | 945 | Not significant | CRC | Soong et al[107] |
5-FU/LV | RT-PCR | 33 | Low expression | aCRC | Salonga et al[17] |
UFT/LV | RT-PCR | 37 | Low expression | mCRC | Ichikawa et al[39] |
5-FU/LV/CPT-11 | RT-PCR | 13 | Not significant | aCRC | Yanagisawa et al[37] |
Capecitabine | RT-PCR | 37 | Low expression | aCRC | Vallböhmer et al[97] |
Capecitabine/CPT-11 | RT-PCR | 67 | Not significant | aCRC | Meropol et al[98] |
Capecitabine/CPT-11 | IHC | 556 | Low expression | aCRC | Koopman et al[110] |
5-FU-based therapy | ELISA | 64 | Low expression | aCRC | Oi et al[444] |
5-FU-based therapy | RT-PCR | 102 | Low expression | CRC | Lassman et al[445] |
5-FU-based therapy | RT-PCR | 144 | Low expression | aCRC | Gustavsson et al[446] |
5-FU-based therapy | IHC | 150 | Low expression | aCRC | Tokunaga et al[447] |
Thymidine phosphorylase (TYMP) (OMIM # 131222) | |||||
5-FU | IHC | 62 | Not significant | aCRC | Ciaparrone et al[27] |
5-FU | IHC | 945 | Not significant | CRC | Soong et al[107] |
5-FU/LV | RT-PCR | 33 | Low expression | aCRC | Salonga et al[17] |
5-FU/LV/CPT-11 | RT-PCR | 13 | Not significant | aCRC | Yanagisawa et al[37] |
Capecitabine | RT-PCR | 37 | Not significant | aCRC | Vallböhmer et al[97] |
Capecitabine/OX | IHC | 41 | High expression | mCRC | Petrioli et al[448] |
Capecitabine/CPT-11 | RT-PCR | 67 | High expression | aCRC | Meropol et al[98] |
Capecitabine/CPT-11 | IHC | 556 | Not significant | aCRC | Koopman et al[110] |
5-FU-based therapy | RT-PCR | 144 | Low expression | aCRC | Gustavsson et al[446] |
5-FU-based therapy | IHC | 150 | Low expression | aCRC | Tokunaga et al[447] |
Uridine monophosphate synthetase (UMPS) (OMIM #613891) | |||||
5-FU | RT-PCR | 38 | Not significant | mCRC | Sameshima et al[449] |
5-FU | RT-PCR | 39 | Not significant | CRC | Ishida et al[25] |
5-FU/LV/OX | RT-PCR | 58 | Not significant | CRC | Dong et al[450] |
5-FU/LV/cisplatin | RT-PCR | 22 | High expression | mCRC | Matsuyama et al[113] |
UFT | RIA | 40 | High expression | CRC | Ichikawa et al[114] |
UFT | RIA | 124 | High expression | CRC | Ochiai et al[115] |
UFT | IHC | 150 | High expression | CRC | Tokunaga et al[116] |
UFT | IHC | 160 | High expression | CRC | Tokunaga et al[117] |
UFT/LV | RT-PCR | 37 | High expression | mCRC | Ichikawa et al[118] |
UFT/LV | RT-PCR | 103 | High expression | CRC | Yamada et al[119] |
5-FU-based therapy | RT-PCR | 10 | Not significant | CRC | Ishibashi et al[451] |
5-FU-based therapy | RIA | 11 | Not significant | CRC | Yamada et al[452] |
5-FU-based therapy | RT-PCR | 52 | Not significant | CRC | Kinoshita et al[453] |
5-FU-based therapy | RIA | 54 | High expression | CRC | Fujii et al[120] |
5-FU-based therapy | RIA | 90 | High expression | CRC | Ochiai et al[121] |
dbSNP rs cluster ID | Type of polymorphism | Function | Ref. |
UDP-glycosyltransferase 1A1 (UGT1A1) (OMIM # 191740) | |||
rs8175347 | VNTR | [177,178,180,182,191,192,197,219,317,356,454-460] | |
-53(TA)6>7 | UGT1A1*28, reduced activity | ||
-53(TA)6>5 | UGT1A1*36, increased activity | ||
-53(TA)6>8 | UGT1A1*37, reduced activity | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 8175347 | |||
rs3755319 | SNP | [187] | |
-3279T>G | UGT1A1*60, reduced activity | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 3755319 | |||
rs10929302a | SNP | [192,404] | |
-3156G>A | UGT1A1*93, reduced activity | ||
rs887829b | -3140G>A | effect unknown | |
ahttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 10929302 | |||
bhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 887829 | |||
rs4148323 | SNP | [186,191,461] | |
211G>A | Gly71Arg, UGT1A1*6, reduced activity | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 4148323 | |||
rs35350960 | SNP | [172,174,189] | |
686C>A | Pro229Gln, UGT1A1*27, reduced activity | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 35350960 | |||
rs34993780 | SNP | [170,174,189] | |
1456T>G | Tyr486Asp, UGT1A1*7, reduced activity | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 34993780 | |||
UDP-glycosyltransferase 1A7 (UGT1A7) (OMIM #606432) | |||
rs17868323a | SNP | [188,189,197,237] | |
387T>G | Asn129Lys, UGT1A7*2 and *3, increased activity | ||
rs17863778b | 391C>A | Arg131Lys, UGT1A7*2 and *3, increased activity | |
rs11692021c | 622C>T | Trp208Arg, UGT1A7*3 and *4, reduced activity | |
ahttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 17868323 | |||
bhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 17863778 | |||
chttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 11692021 | |||
UDP-glycosyltransferase 1A9 (UGT1A9) (OMIM #606434) | |||
rs45625337 | VNTR | [190,197,462] | |
–118(T)9>10 | UGT1A9*22, increased activity | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 45625337 | |||
rs2741049 | SNP | [197,463] | |
IVS1+399C>T | Effect unknown | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 2741049 | |||
Carboxylesterase 2 (CES2) (OMIM #605278) | |||
- | SNP | [159,161,166] | |
1A>T | Met1Leu, CES*5 | ||
rs72547531a | 100C>T | Arg98Trp, CES*2 | |
rs72547532b | 424G>A | Val206Met, CES*3 | |
rs8192924c | 617G>A | Arg270His, CES*6 | |
rs11075646d | 830C>G | Synonymous | |
rs72547533e | IVS8-2A>G | Splicing defect, CES*4 | |
ahttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 72547531 | |||
bhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 72547532 | |||
chttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 8192924 | |||
dhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 11075646 | |||
ehttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 72547533 | |||
Cytochrome P450, subfamily IIIA, polypeptide 4 (CYP3A4) (OMIM #124010) | |||
rs2740574a | SNP | [211,464,465] | |
-392A>G | CYP3A4*1b, altered pharmacokinetics and toxicity | ||
rs4986907b | 485G>A | CYP3A4*15, Arg162Gln | |
rs4986908c | 520G>C | CYP3A4*10, Asp174His | |
rs12721627d | 554C>G | CYP3A4*16, Thr185Ser | |
rs4987161e | 566T>C | CYP3A4*17, Phe189Ser, altered pharmacokinetics | |
rs55785340f | 664T>C | CYP3A4*2, Ser222Pro, altered pharmacokinetics and toxicity | |
rs28371759g | 878T>C | CYP3A4*18, Leu293Pro, altered pharmacokinetics and toxicity | |
ahttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 2740574 | |||
bhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 4986907 | |||
chttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 4986908 | |||
dhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 12721627 | |||
ehttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 4987161 | |||
fhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 55785340 | |||
ghttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 28371759 | |||
rs4986910 | SNP | [210,465] | |
1334T>C | CYP3A4*3, Met444Thr | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 4986910 | |||
Cytochrome P450, subfamily IIIA, polypeptide 5 (CYP3A5) (OMIM #605325) | |||
rs776746 | SNP | [179,464-467] | |
6986A>G | Synonymous | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 776746 | |||
Multidrug resistance 1 (MDR1, ABCB1) (OMIM #171050) | |||
rs1128503 | SNP | [210,211,217,460,467-469] | |
1236C>T | Synonymous, CTP-11 or SN-38 AUC ↑ | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 1128503 | |||
rs2032582 | SNP | [217,468-470] | |
2677G>T/A | Ser893Ala or Ser893Thr | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 2032582 | |||
rs1045642 | SNP | [179,217,468-475] | |
3435C>T | Synonymous, CTP-11 AUC ↑ | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 1045642 | |||
rs10276036 | SNP | [207] | |
IVS9-44A>G | Effect unknown | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 10276036 | |||
Multidrug resistance-associated protein 1 (MRP1, ABCC1) (OMIM #158343) | |||
rs35605 | SNP | [210,476] | |
1684T>C | Synonymous | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 35605 | |||
rs17287570 | SNP | [237] | |
c.1677+4951A>C | Effect unknown | ||
rs3765129 | SNP | [207,210,476] | |
IVS11-48C>T | Effect unknown | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 3765129 | |||
rs2074087 | SNP | [476,477] | |
IVC18-30C>G | Effect unknown | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 2074087 | |||
Multidrug resistance-associated protein 2 (MRP2, ABCC2) (OMIM #601107) | |||
rs1885301 | SNP | [477] | |
-1549A>G | Effect unknown | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 1885301 | |||
rs2804402 | SNP | [207] | |
-1019A>G | Effect unknown | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 2804402 | |||
rs717620 | SNP | [477-479] | |
-24C>T | Effect unknown | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 717620 | |||
rs2273697 | SNP | [467,479,480] | |
1249G>A | Val417Ile, effect unknown | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 2273697 | |||
rs3740066 | SNP | [477,479,481] | |
3972C>T | Synonymous, CTP-11 or APC or SN-38G AUC ↑ | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 3740066 | |||
Breast cancer resistance protein (BCRP, ABCG2) (OMIM #603756) | |||
rs2622604a | SNP | [237] | |
c.-19-17758A>G | Synonymous | ||
rs3109823b | c.-19-3436G>A | Synonymous | |
ahttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 2622604 | |||
bhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 3109823 | |||
rs2231142 | SNP | [239-244,482] | |
421C>A | Gln141Lys, no significant changes in CPT-11 pharmacokinetics | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 2231142 | |||
rs2231137 | SNP | [242,467,482] | |
34G>A | Val12Met, higher drug resistance in vitro (SN-38) | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 2231137 | |||
rs1481012 | SNP | [483] | |
c.841+179T>C | Synonymous | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 1481012 | |||
Organic anion-transporting polypeptide 1B1 (OATP1B1, SLCO1B1) (OMIM #604843) | |||
rs2306283 | SNP | [247-249,460,467,484] | |
388A>G | Asn130Asp, effect unknown | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 2306283 | |||
rs4149056 | SNP | [247-249,460] | |
521T>C | Val174Ala, effect unknown | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 4149056 |
dbSNP rs cluster ID | Type of polymorphism | Function | Ref. |
Multidrug resistance 1 (MDR1, ABCB1) (OMIM #171050) | |||
rs1128503 | SNP | [152,296,318,485] | |
1236C>T | Synonymous, effect unknown | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 1128503 | |||
rs2032582 | SNP | [152,296] | |
2677G>T/A | Ser893Ala or Ser893Thr, the GG genotype carriers have the highest while the AT genotype carriers have the lowest levels of ABCB1 expression | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 2032582 | |||
rs1045642 | SNP | [152,296,350,485] | |
3435C>T | Synonymous, TT genotype carriers have lower intestinal ABCB1 expression | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 1045642 | |||
Glutathione S-transferase π (GSTP1) (OMIM #134660) | |||
rs1138272 | SNP | [311,477] | |
341C>T | Ala114Val, altered enzyme kinetics, altered toxicity | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 1138272 | |||
rs1695 | SNP | [51,180,311-329,467,477] | |
313A>G | Ile105Val, decreased enzymatic activity, altered toxicity | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 1695 | |||
Excision repair cross-complementation group 1 (ERCC1) (OMIM #126380) | |||
rs11615 | SNP | [51,313,344,345,357,486] | |
354T>C | Synonymous, decreased transcriptional activity of ERCC1 | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 11615 | |||
rs3212948 | SNP | [487] | |
321+74C>G | Intronic SNP (intron 2), protective effect of the C allele to cancer risk | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 3212948 | |||
Excision repair cross-complementation group 2 (ERCC2, XPD) (OMIM #126340) | |||
rs13181 | SNP | [51,313,336,337,350,351,353,356,357,486] | |
2251A>C | Lys751Gln, the Gln allele is associated with a higher DNA adduct level or lower DNA repair capacity | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 13181 | |||
rs1799793 | SNP | [313,336,337,353] | |
862G>A | Asp312Asn, lower DNA repair capacity for the Asn allele than the Asp allele | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 1799793 | |||
X-ray cross complementation factor (XRCC1) (OMIM #194360) | |||
rs25487 | SNP | [51,313,349,350,361-364,486] | |
1196A>G | Arg399Gln, reduced base excision repair function for Gln allele than the Arg allele | ||
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 25487 |
- Citation: Panczyk M. Pharmacogenetics research on chemotherapy resistance in colorectal cancer over the last 20 years. World J Gastroenterol 2014; 20(29): 9775-9827
- URL: https://www.wjgnet.com/1007-9327/full/v20/i29/9775.htm
- DOI: https://dx.doi.org/10.3748/wjg.v20.i29.9775