Pharmacogenetics research on chemotherapy resistance in colorectal cancer over the last 20 years

doi:10.3748/wjg.v20.i29.9775

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World J Gastroenterol. Aug 7, 2014; 20(29): 9775-9827
Published online Aug 7, 2014. doi: 10.3748/wjg.v20.i29.9775

Table 3 Selected common polymorphisms of UGT1A1, UGT1A7, UGT1A9, CES2, CYP3A4, CYP3A5, MDR1, MRP1, MRP2, BCRP, OATP1B1 genes and their potential impact on functioning of proteins related to CPT-11 pharmacology

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]
rs3755319	-3279T>G	UGT1A1*60, reduced activity
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 3755319
rs10929302^a	SNP		[192,404]
rs10929302^a	-3156G>A	UGT1A1*93, reduced activity
rs887829^b	-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]
rs4148323	211G>A	Gly71Arg, UGT1A1*6, reduced activity
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 4148323
rs35350960	SNP		[172,174,189]
rs35350960	686C>A	Pro229Gln, UGT1A1*27, reduced activity
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 35350960
rs34993780	SNP		[170,174,189]
rs34993780	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)
rs17868323^a	SNP		[188,189,197,237]
rs17868323^a	387T>G	Asn129Lys, UGT1A72 and 3, increased activity
rs17863778^b	391C>A	Arg131Lys, UGT1A72 and 3, increased activity
rs11692021^c	622C>T	Trp208Arg, UGT1A73 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]
rs45625337	–118(T)9>10	UGT1A9*22, increased activity
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 45625337
rs2741049	SNP		[197,463]
rs2741049	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
rs72547531^a	100C>T	Arg98Trp, CES*2
rs72547532^b	424G>A	Val206Met, CES*3
rs8192924^c	617G>A	Arg270His, CES*6
rs11075646^d	830C>G	Synonymous
rs72547533^e	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)
rs2740574^a	SNP		[211,464,465]
rs2740574^a	-392A>G	CYP3A4*1b, altered pharmacokinetics and toxicity
rs4986907^b	485G>A	CYP3A4*15, Arg162Gln
rs4986908^c	520G>C	CYP3A4*10, Asp174His
rs12721627^d	554C>G	CYP3A4*16, Thr185Ser
rs4987161^e	566T>C	CYP3A4*17, Phe189Ser, altered pharmacokinetics
rs55785340^f	664T>C	CYP3A4*2, Ser222Pro, altered pharmacokinetics and toxicity
rs28371759^g	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]
rs4986910	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]
rs776746	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]
rs1128503	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]
rs2032582	2677G>T/A	Ser893Ala or Ser893Thr
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 2032582
rs1045642	SNP		[179,217,468-475]
rs1045642	3435C>T	Synonymous, CTP-11 AUC ↑
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 1045642
rs10276036	SNP		[207]
rs10276036	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]
rs35605	1684T>C	Synonymous
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 35605
rs17287570	SNP		[237]
rs17287570	c.1677+4951A>C	Effect unknown	[237]
rs3765129	SNP		[207,210,476]
rs3765129	IVS11-48C>T	Effect unknown
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 3765129
rs2074087	SNP		[476,477]
rs2074087	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]
rs1885301	-1549A>G	Effect unknown
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 1885301
rs2804402	SNP		[207]
rs2804402	-1019A>G	Effect unknown
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 2804402
rs717620	SNP		[477-479]
rs717620	-24C>T	Effect unknown
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 717620
rs2273697	SNP		[467,479,480]
rs2273697	1249G>A	Val417Ile, effect unknown
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 2273697
rs3740066	SNP		[477,479,481]
rs3740066	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)
rs2622604^a	SNP		[237]
rs2622604^a	c.-19-17758A>G	Synonymous
rs3109823^b	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]
rs2231142	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]
rs2231137	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]
rs1481012	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]
rs2306283	388A>G	Asn130Asp, effect unknown
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 2306283
rs4149056	SNP		[247-249,460]
rs4149056	521T>C	Val174Ala, effect unknown
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs = 4149056

SNP: Single nucleotide polymorphism.

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