Table 1.
Genotypic and allelic frequencies of polymorphisms in CYP2D6, CYP3A5, CYP2C9 and CYP2C19 in healthy Asians (n = 76 each) and Asian breast cancer patient (n = 165) populations
| Genotypic frequencies | Allelic frequencies | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Polymorphisms | Genotypes | Chinese | Malays | Indians | Breast cancer patients | Alleles | Chinese | Malays | Indians | Breast cancer patients | Overall P value | ||||
| CYP2D6 | |||||||||||||||
| CYP2D6*2 | *1/*1 | 37 | (62.7) | 47 | (68.1) | 23 | (32.9) | 92 | (66.2) | *1 | 0.83 | 0.83 | 0.56 | 0.81 | <0.001 |
| (2850C>T; rs16947) | *1/*2 | 21 | (35.6) | 20 | (29.0) | 33 | (47.1) | 37 | (26.6) | *2 | 0.17 | 0.17§ | 0.44‡ | 0.19 | |
| *2/*2 | 1 | (1.7) | 2 | (2.9) | 14 | (20.0) | 10 | (7.2) | |||||||
| CYP2D6*2A | *1/*1 | 41 | (67.2) | 57 | (81.4) | 38 | (52.8) | 105 | (75.6) | *1 | 0.85 | 0.90 | 0.72 | 0.87 | 0.002 |
| (-1584C>G) | *1/*2A | 19 | (31.1) | 12 | (17.1) | 27 | (37.5) | 28 | (20.1) | *2A | 0.15 | 0.10§ | 0.28‡ | 0.13 | |
| *2A/*2A | 1 | (1.6) | 1 | (1.4) | 7 | (9.7) | 6 | (4.3) | |||||||
| CYP2D6*4 | *1/*1 | 50 | (98.0) | 50 | (92.6) | 57 | (89.1) | 135 | (99.3) | *1 | 0.98 | 0.96 | 0.91 | 1.00 | 0.199 |
| (1846G>A; rs3892097) | *1/*4 | 1 | (2.0) | 4 | (7.4) | 3 | (4.7) | 1 | (0.7) | *4 | 0.02 | 0.04 | 0.09 | <0.01 | |
| *4/*4 | 0 | (0.0) | 0 | (0.0) | 4 | (6.3) | 0 | (0.0) | |||||||
| CYP2D6*5 | *1/*1 | 61 | (81.3) | 70 | (92.1) | 72 | (94.7) | 139 | (84.2) | *1 | 0.91 | 0.96 | 0.97 | 0.92 | 0.018 |
| (CYP2D6 del) | *1/*5 | 14 | (18.7) | 6 | (7.9) | 4 | (5.3) | 26 | (15.8) | *5 | 0.09 | 0.04 | 0.03‡ | 0.08 | |
| *5/*5 | 0 | (0.0) | 0 | (0.0) | 0 | (0.0) | 0 | (0.0) | |||||||
| CYP2D6*8/*14 | *1/*1 | 50 | (92.6) | 61 | (100.0) | 69 | (100.0) | 98 | (96.1) | *1 | 0.97 | 1.00 | 1.00 | 1.00 | 0.113 |
| (1758G>T/A) | *1/*8 | 1 | (1.9) | 0 | (0.0) | 0 | (0.0) | 0 | (0.0) | *8 | 0.01 | – | – | – | |
| *1/*14 | 2 | (3.7) | 0 | (0.0) | 0 | (0.0) | 4 | (3.9) | *14 | 0.02 | – | – | 0.01 | ||
| *8/*8 | 0 | (0.0) | 0 | (0.0) | 0 | (0.0) | 0 | (0.0) | |||||||
| *14/*14 | 0 | (0.0) | 0 | (0.0) | 0 | (0.0) | 0 | (0.0) | |||||||
| *8/*14 | 0 | (1.9) | 0 | (0.0) | 0 | (0.0) | 0 | (0.0) | |||||||
| CYP2D6*9 | *1/*1 | 59 | (100.0) | 65 | (100) | 68 | (98.6) | 139 | (100.0) | *1 | 1.00 | 1.00 | 0.99 | 1.00 | 0.405 |
| (2615_2617delAAG; | *1/*9 | 0 | (0.0) | 0 | (0.0) | 1 | (1.4) | 0 | (0.0) | *9 | – | – | 0.01 | – | |
| rs5030656) | *9/*9 | 0 | (0.0) | 0 | (0.0) | 0 | (0.0) | 0 | (0.0) | ||||||
| CYP2D6*10 | *1/*1 | 14 | (23.0) | 12 | (17.4) | 56 | (77.8) | 42 | (30.2) | *1 | 0.44 | 0.43 | 0.89 | 0.49 | <0.001 |
| (100C>T; rs1065852) | *1/*10 | 29 | (47.5) | 36 | (52.2) | 15 | (20.8) | 54 | (38.9) | *10 | 0.56 | 0.57§ | 0.11‡ | 0.51 | |
| *10/*10 | 18 | (29.5) | 21 | (30.4) | 1 | (1.4) | 43 | (30.9) | |||||||
| CYP2D6*12 | *1/*1 | 61 | (100.0) | 68 | (98.6) | 72 | (100.0) | 139 | (100.0) | *1 | 1.00 | 0.99 | 1.00 | 1.00 | 0.380 |
| (124G>A; rs5030862) | *1/*12 | 0 | (0.0) | 1 | (1.4) | 0 | (0.0) | 0 | (0.0) | *12 | – | 0.01 | – | – | |
| *12/*12 | 0 | (0.0) | 0 | (0.0) | 0 | (0.0) | 0 | (0.0) | |||||||
| CYP2D6*41 | *1/*1 | 56 | (96.6) | 56 | (82.4) | 51 | (73.9) | 125 | (89.9) | *1 | 0.99 | 0.91 | 0.85 | 0.95 | 0.017 |
| (2988G>A; rs28371725) | *1/*41 | 2 | (3.4) | 11 | (16.2) | 17 | (24.6) | 13 | (9.4) | *41 | 0.01† | 0.09 | 0.15‡ | 0.05 | |
| *41/*41 | 0 | (0.0) | 1 | (1.5) | 1 | (1.4) | 1 | (0.7) | |||||||
| CYP2D6*xN | *1 | 61 | (100.0) | 69 | (98.6) | 71 | (98.6) | 133 | (95.7) | *1 | 1.00 | 0.99 | 0.99 | 0.98 | 0.648 |
| (multiple CYP2D6) | *1/*xN | 0 | (0.0) | 1 | (1.4) | 1 | (1.4) | 6 | (4.3) | *xN | – | 0.01 | 0.01 | 0.02 | |
| CYP3A5 | |||||||||||||||
| CYP3A5*3¶ | *1/*1 | (8.3) | (10.2) | (12.2) | 14 | (8.5) | *1 | 0.25 | 0.39 | 0.41 | 0.30 | – | |||
| (6986A>G; rs776746) | *1/*3 | (32.4) | (57.1) | (56.7) | 72 | (43.6) | *3 | 0.76 | 0.61 | 0.59 | 0.70 | ||||
| *3/*3 | (59.3) | (32.7) | (31.1) | 79 | (47.9) | ||||||||||
| CYP2C9 | |||||||||||||||
| CYP2C9*2 | *1/*1 | 76 | (100.0) | 76 | (100.0) | 72 | (94.7) | 165 | (100.0) | *1 | 1.00 | 1.00 | 0.97 | 1.00 | 0.005 |
| (430C>T; rs1799853) | *1/*2 | 0 | (0.0) | 0 | (0.0) | 4 | (5.26) | 0 | (0.0) | *2 | 0.00 | 0.00§ | 0.03‡ | 0.00 | |
| *2/*2 | 0 | (0.0) | 0 | (0.0) | 0 | (0.0) | 0 | (0.0) | |||||||
| CYP2C9*3 | *1/*1 | 74 | (97.4) | 69 | (90.8) | 63 | (82.9) | 151 | (92.1) | *1 | 0.99 | 0.95 | 0.91 | 0.96 | <0.001 |
| (1075A>C; rs1057910) | *1/*3 | 2 | (2.6) | 7 | (9.2) | 12 | (15.8) | 12 | (7.3) | *3 | 0.01† | 0.05 | 0.09‡ | 0.04 | |
| *3/*3 | 0 | (0.0) | 0 | (0.0) | 1 | (1.3) | 1 | (0.6) | |||||||
| CYP2C19 | |||||||||||||||
| CYP2C19*2 | *1/*1 | 38 | (50.0) | 44 | (57.9) | 28 | (36.8) | 73 | (45.1) | *1 | 0.68 | 0.77 | 0.62 | 0.65 | <0.001 |
| (681G>A; rs4244285) | *1/*2 | 28 | (36.8) | 29 | (38.2) | 38 | (50.0) | 66 | (40.7) | *2 | 0.32 | 0.23§ | 0.38 | 0.35 | |
| *2/*2 | 10 | (13.2) | 3 | (3.9) | 10 | (13.2) | 23 | (14.2) | |||||||
| CYP2C19*3 | *1/*1 | 65 | (85.5) | 65 | (85.5) | 75 | (98.7) | 149 | (90.3) | *1 | 0.93 | 0.93 | 0.99 | 0.95 | <0.001 |
| (636G>A; rs4986893) | *1/*3 | 11 | (14.5) | 11 | (14.5) | 1 | (1.3) | 15 | (9.1) | *3 | 0.07 | 0.07§ | 0.01‡ | 0.05 | |
| *3/*3 | 0 | (0.0) | 0 | (0.0) | 0 | (0.0) | 1 | (0.6) | |||||||
| CYP2C19*17 | *1/*1 | 75 | (98.7) | 69 | (90.8) | 50 | (65.8) | 153 | (93.3) | *1 | 0.99 | 0.95 | 0.81 | 0.97 | <0.001 |
| (–3402C>T and | *1/*17 | 1 | (1.4) | 7 | (9.2) | 23 | (30.3) | 11 | (6.7) | *17 | 0.01† | 0.05§ | 0.19‡ | 0.03 | |
| –806C>T; rs12248560) | *17/*17 | 0 | (0.0) | 0 | (0.0) | 3 | (3.9) | 0 | (0.0) | ||||||
†
Chinese vs. Malay, P < 0.050.
‡
Chinese vs. Indian, P < 0.050.
§
Malay vs. Indian, P < 0.050.
¶
Genotypic and allelic frequencies were from previous study by Balram et al. [23].