Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan

Iskakova, Aisha N.; Romanova, Aliya A.; Aitkulova, Akbota M.; Sikhayeva, Nurgul S.; Zholdybayeva, Elena V.; Ramanculov, Erlan M.

doi:10.1186/s12863-016-0329-x

Table 1 Allele frequency and genotype distribution in the Kazakh population (^а number of chromosomes; ^b number of alleles)

From: Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan

	#	Assay name	RS	Number of samples	Hardy-Weinberg equilibrium p-value	Allele	n^a	Frequency	Genotype	n^b	Frequency
drug transporters		ATP-binding cassette
	1	ABCB1_C3435ntT	rs1045642	280	0.39184	A	257	0.46	AA	55	0.20
						G	303	0.54	AG	147	0.53
									GG	78	0.8
	2	ABCB1_T1236ntC	rs1128503	278	0.72281	A	292	0.53	AA	75	0.27
						G	264	0.47	AG	142	0.51
									GG	61	0.22
	3	ABCB1_2677nt G > T	rs2032582	275	0.03713	C	308	0.56	СС	95	0.35
						A	242	0.44	CA	118	0.43
									AA	62	0.23
	4	ABCB1_2677nt G > A	rs2032582	240	0	C	409	0.85	СС	189	0.79
						T	71	0.15	СT	31	0.13
									TT	20	0.08
	5	ABCC2_V417I	rs2273697	279	0.03662	G	472	0.85	GG	195	0.70
						A	86	0.15	GA	82	0.29
									AA	2	0.01
	6	ABCC2_I1324I	rs3740066	279	0.32311	C	388	0.70	СС	131	0.47
						T	170	0.30	СT	126	0.45
									TT	22	0.08
	7	ABCC2_-24C > T	rs717620	292	0.36682	C	467	0.80	СС	184	0.63
						T	117	0.20	СT	99	0.34
									TT	9	0.03
	8	ABCG2_ 421 nt C > A	rs2231142	281	1	G	476	0.85	GG	201	0.72
						T	86	0.15	GT	74	0.26
									TT	6	0.02
		Solute carrier family 15 (H+/peptide transporter)
	9	SLC15A2_P409S	rs1143671	288	1	T	315	0.55	TT	86	0.30
						C	261	0.45	TC	143	0.50
									CC	59	0.20
	10	SLC15A2_R509K	rs1143672	258	0.5314	A	282	0.55	AA	74	0.29
						G	234	0.45	AG	134	0.52
									GG	50	0.19
	11	SLC15A2_A284A	rs2293616	287	0.5535	A	302	0.53	AA	82	0.29
						G	272	0.47	AG	138	0.48
									GG	67	0.23
	12	SLC15A2_L350F	rs2257212	277	0.90495	C	252	0.45	СС	58	0.21
						T	302	0.55	СT	136	0.49
									TT	83	0.30
		Solute carrier family 22 (organic cation transporter)
	13	SLC22A1_420del3	rs72552763	280	0.43952	GAT	512	0.91	GAT/GAT	235	0.84
						del	48	0.09	GAT/del	42	0.15
									del/del	3	0.01
	14	SLC22A1_P283L	rs4646277	269	1	C	525	0.98	СС	256	0.95
						T	13	0.02	СT	13	0.05
									TT	0	0.00
	15	SLC22A1_P341L	rs2282143	242	0.36537	C	463	0.96	СС	222	0.92
						T	21	0.04	СT	19	0.08
									TT	1	0.00
	16	SLC22A1_M408V	rs628031	272	0.79314	G	351	0.65	GG	112	0.41
						A	193	0.35	GA	127	0.47
									AA	33	0.12
	17	SLC22A1_G465R	rs34059508	283	0.06258	G	557	0.98	GG	275	0.97
						A	9	0.02	GA	7	0.02
									AA	1	0.00
	18	SLC22A2_K432Q	rs8177517	276	1	T	544	0.99	TT	268	0.97
						G	8	0.01	TG	8	0.03
									GG	0	0.00
	19	SLC22A2_M165I	rs8177507	289	1	C	569	0.98	СС	280	0.97
						T	9	0.02	СT	9	0.03
									TT	0	0.00
	20	SLC22A2*4.1_S270A	rs316019	267	0.376	C	495	0.93	CC	228	0.85
						A	39	0.07	CA	39	0.15
									AA	0	0.00
		Solute carrier organic anion transporter family
21	SLCO1B1*1B_N130D	rs2306283	267	0.53112	G	307	0.57	GG	91	0.34
					A	227	0.43	GA	125	0.47
								AA	51	0.19
22	SLCO1B1*5_V174A	rs4149056	243	0.14152	T	410	0.84	TT	176	0.72
					C	76	0.16	TC	58	0.24
								CC	9	0.04
23	SLCO1B3_699G > A	rs7311358	265	0.13227	A	402	0.76	AA	157	0.59
					G	128	0.24	GA	88	0.33
								GG	20	0.08
24	SLCO1B3_334T > G	rs4149117	254	0.85656	G	395	0.78	GG	154	0.61
					T	113	0.22	GT	87	0.34
								TT	13	0.05
25	SLCO2B1*3_S486F	rs2306168	275	0.11608	C	461	0.84	СС	197	0.72
					T	89	0.16	СT	67	0.24
								TT	11	0.04
Phase II metabolizing enzymes		Glutathione S-transferase pi 1
	26	GSTP1_V105I	rs1695	276	0.71558	C	437	0.79	AA	174	0.63
						T	115	0.21	AG	89	0.32
									GG	13	0.05
		N-acetyltransferase
	27	NAT1_884A > G	rs55793712	294	1	A	584	0.99	AA	290	0.99
						G	4	0.01	AG	4	0.01
									GG	0	0.00
	28	NAT1*11A-C g.-344C > T	rs4986988	278	1	C	545	0.98	СС	267	0.96
						T	11	0.02	СT	11	0.04
									TT	0	0.00
	29	NAT1*14_560G > A	rs4986782	289	1	G	576	1.00	GG	287	0.99
						A	2	0.00	GA	2	0.01
									AA	0	0.00
	30	NAT2*5_341T > C	rs1801280	256	0.00661	C	136	0.27	СС	27	0.11
						T	376	0.73	СT	82	0.32
									TT	147	0.57
	31	NAT2*6_590G > A	rs1799930	269	0.62646	G	402	0.75	GG	148	0.55
						A	136	0.25	GA	106	0.39
									AA	15	0.06
	32	NAT2*7_857G > A	rs1799931	278	1	A	62	0.11	AA	3	0.01
						G	494	0.89	GA	56	0.20
									GG	219	0.79
	33	NAT2*11_481C > T	rs1799929	267	0.03425	C	398	0.75	СС	155	0.58
						T	136	0.25	СT	88	0.33
									TT	24	0.09
	34	NAT2*12_803A > G	rs1208	272	0.18999	A	409	0.75	AA	158	0.58
						G	135	0.25	AG	93	0.34
									GG	21	0.08
	35	NAT2*13_282C > T	rs1041983	293	0.13049	C	368	0.63	СС	109	0.37
						T	218	0.37	СT	150	0.51
									TT	34	0.12
		Thiopurine S-methyltransferase
	36	TPMT*3B_460 G > A A154T	rs1800460	249	1	C	492	0.99	CC	243	0.98
						T	6	0.01	CT	6	0.02
									TT	0	0.00
	37	TPMT*3C_719A > G C240Y	rs1142345	242	1	T	477	0.99	TT	235	0.97
						C	7	0.01	TC	7	0.03
									CC	0	0.00
		UDP glucuronosyltransferase
	38	UGT1A1*27_686C > A	rs35350960	289	1	C	577	1.00	СС	288	1.00
						A	1	0.00	CA	1	0.00
									AA	0	0.00
	39	UGT2B15*2_253G > T	rs1902023	255	0.61468	A	281	0.55	AA	75	0.29
						C	229	0.45	AC	131	0.51
									CC	49	0.19
	40	UGT1A1*6_211G > A	rs4148323	288	0.66077	G	485	0.84	GG	205	0.71
						A	91	0.16	GA	75	0.26
									AA	8	0.03
	41	UGT2B7*2b_-327G > A	rs7662029	286	0.72247	A	307	0.54	AA	84	0.29
						G	265	0.46	AG	139	0.49
									GG	63	0.22
	42	UGT1A1*60_-3263 T > G	rs4124874	274	0.52854	T	326	0.59	TT	94	0.34
						G	222	0.41	TG	138	0.50
									GG	42	0.15
	43	UGT2B7*2a_-161C > T	rs7668258	277	0.90334	T	295	0.53	TT	79	0.29
						C	259	0.47	TC	137	0.49
									CC	61	0.22
		Dihydropyrimidine dehydrogenase
Phase I metabolizing enzymes	44	DPYD*2A_IVS14 + 1G > A	rs3918290	288	1	C	575	1.00	СС	287	1.00
						T	1	0.00	СT	1	0.00
									TT	0	0.00
	45	DPYD*7_delTACT	hCV32287186	279	1	ATGA	551	0.99	ATGA/ATGA	272	0.97
						del	7	0.01	ATGA/del	7	0.03
									del/del	0	0.00
	46	DPYD*9A_C29R	rs1801265	268	0.8213	A	450	0.84	AA	188	0.70
						G	86	0.16	AG	74	0.28
									GG	6	0.02
		Cytochrome P450
	47	CYP1A1*2 g.2455A > G	rs1048943	279	0.20473	T	463	0.83	TT	195	0.70
						C	95	0.17	TC	73	0.26
									CC	11	0.04
	48	CYP1A1*4 g.2453C > A	rs1799814	282	0.17395	G	549	0.97	GG	268	0.95
						T	15	0.03	GT	13	0.05
									TT	1	0.00
	49	CYP1A1*9 g.2461C > T	rs41279188	294	1	G	587	1.00	GG	293	1.00
						A	1	0.00	GA	1	0.00
									AA	0	0.00
	50	CYP1A2*1C g.-3860G > A	rs2069514	259	0.01548	G	437	0.84	GG	190	0.73
						A	81	0.16	GA	57	0.22
									AA	12	0.05
	51	CYP1A2*1 F g.-163C > A	rs762551	297	0.60371	A	394	0.66	AA	133	0.45
						C	200	0.34	CA	128	0.43
									CC	36	0.12
	52	CYP1A2*1 K g.-729C > T	rs12720461	294	1	C	587	1.00	СС	293	1.00
						T	1	0.00	СT	1	0.00
									TT	0	0.00
	53	CYP2A6*2 g.1799 T > A	rs1801272	261	1	A	515	0.99	AA	254	0.97
						T	7	0.01	AT	7	0.03
									TT	0	0.00
	54	CYP2A6*9 g.-48 T > G	rs28399433	261	0.06641	A	460	0.88	AA	206	0.79
						C	62	0.12	AC	48	0.18
									CC	7	0.03
	55	CYP2B6*6 g.15631G > T	rs3745274	232	0.40492	G	339	0.73	GG	121	0.52
						T	125	0.27	GT	97	0.42
									TT	14	0.06
	56	CYP2B6*8 g.13072A > G	rs12721655	265	1	A	529	1.00	AA	264	1.00
						G	1	0.00	AG	1	0.00
									GG	0	0.00
	57	CYP2B6*16 g. 21011 T > C	rs28399499	299	1	T	583	0.97	TT	284	0.95
						C	15	0.03	TC	15	0.05
									CC	0	0.00
	58	CYP2C8*2 g.11054A > T	rs11572103	275	1	T	548	1.00	TT	273	0.99
						A	2	0.00	TA	2	0.01
									AA	0	0.00
	59	CYP2C8*3 g.30411A > G	rs10509681	278	1	T	530	0.95	TT	252	0.91
						C	26	0.05	TC	26	0.09
									CC	0	0.00
	60	CYP2C8*3 g.2130G > A	rs11572080	270	1	C	512	0.95	СС	242	0.90
						T	28	0.05	СT	28	0.10
									TT	0	0.00
	61	CYP2C8*4 g.11041C > G	rs1058930	282	1	G	557	0.99	GG	275	0.98
						C	7	0.01	GC	7	0.02
									CC	0	0.00
	62	CYP2C9*2 g.3608C > T	rs1799853	277	1	C	527	0.95	СС	250	0.90
						T	27	0.05	СT	27	0.10
									TT	0	0.00
	63	CYP2C9*3 g.42614A > C	rs1057910	247	0.37469	A	457	0.93	AA	210	0.85
						C	37	0.07	AC	37	0.15
									CC	0	0.00
	64	CYP2C9*12 g.50338C > T	rs9332239	282	1	C	535	0.95	СС	253	0.90
						T	29	0.05	СT	29	0.10
									TT	0	0.00
65	CYP2C19	rs17878459	239	1	G	475	0.99	GG	236	0.99
					C	3	0.01	GC	3	0.01
								CC	0	0.00
66	CYP2C19 g.99C > T	rs17885098	259	0.14454	C	50	0.10	СС	0	0.00
					T	468	0.90	СT	50	0.19
								TT	209	0.81
67	CYP2C19*2 g.19154G > A (splicing defect)	rs4244285	265	0.28264	G	439	0.83	GG	179	0.68
					A	91	0.17	GA	81	0.31
								AA	5	0.02
68	CYP2C19*2 g.80160C > T	rs3758580	283	0.3245	C	462	0.82	СС	191	0.67
					T	104	0.18	СT	80	0.28
								TT	12	0.04
69	CYP2C19*3 g.17948G > A	rs4986893	278	1	G	533	0.96	GG	255	0.92
					A	23	0.04	GA	23	0.08
								AA	0	0.00
70	CYP2C19*3B g.87313A > C	rs17886522	289	1	A	547	0.95	AA	258	0.89
					C	31	0.05	AC	31	0.11
								CC	0	0.00
71	CYP2C19*8 g.12711 T > C	rs41291556	119	1	T	237	1.00	TT	118	0.99
					C	1	0.00	TC	1	0.01
								CC	0	0.00
72	CYP2C9*11 g.42542C > T	rs28371685	277	1	C	553	1.00	СС	276	1.00
					T	1	0.00	СT	1	0.00
								TT	0	0.00
73	CYP2C19*17 g.-806C > T	rs12248560	279	0.00451	C	494	0.89	СС	224	0.80
					T	64	0.11	СT	46	0.16
								TT	9	0.03
74	CYP2D6*3 g.2549delA	rs35742686	280	1	T	545	0.97	T/T	265	0.95
					del	15	0.03	T/del	15	0.05
								del/del	0	0.00
75	CYP2D6*4 g.1846G > A	rs3892097	290	0.42114	C	507	0.87	СС	223	0.77
					T	73	0.13	СT	61	0.21
								TT	6	0.02
76	CYP3A5*5 g.12952 T > C	rs55965422	272	1	A	525	0.97	AA	253	0.93
					G	19	0.03	AG	19	0.07
								GG	0	0.00
77	CYP2D6*7 g.2935A > C	rs5030867	264	1	T	527	1.00	TT	263	1.00
					G	1	0.00	TG	1	0.00
								GG	0	0.00
78	CYP2D6*9 g.2613_2615delAGA	rs72549350	296	1	TCT	570	0.96	TCT/TCT	274	0.93
					del	22	0.04	TCT/del	22	0.07
								del/del	0	0.00
79	CYP2D6*40 g.1863_1864ins(TTTCGCCCC)2	hCV32407240	292	1	-	577	0.99	−/−'	285	0.98
					ins	7	0.01	Ins/-	7	0.02
								Ins/Ins	0	0.00
80	CYP2E1*2 g.1132G > A	rs72559710	290	1	G	577	0.99	GG	287	0.99
					A	3	0.01	GA	3	0.01
								AA	0	0.00
81	CYP3A4*2 g.15713 T > C	rs55785340	273	1	A	540	0.99	AA	267	0.98
					G	6	0.01	AG	6	0.02
								GG	0	0.00
82	CYP3A4*6 c.830_831insA	rs4646438	276	1	-	551	1.00	−/−	275	1.00
					insA	1	0.00	-/insA	1	0.00
								insA/insA	0	0.00
drug targets		Vitamin K epoxide reductase complex
	83	VKORC1	rs8050894	268	0.43311	G	337	0.63	GG	109	0.41
						C	199	0.37	GC	119	0.44
									CC	40	0.15

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