Genotype frequencies by race and risk group
. | No. patients, higher-risk arm (%) . | . | . | . | No. patients, lower-risk arm (%) . | . | . | . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Loci and genotypes . | Whites . | Blacks . | Others . | Total . | Whites . | Blacks . | Others . | Total . | ||||||
| CYP3A4*1B | ||||||||||||||
| AA | 88 (96.7) | 4 (13.8) | 8 (80) | 100 (76.9) | 75 (93.7) | 3 (18.7) | 19 (95) | 97 (83.6) | ||||||
| AG and GG | 3 (3.3) | 25 (86.2) | 2 (20) | 30 (23.1) | 5 (6.3) | 13 (81.3) | 1 (5) | 19 (16.4) | ||||||
| CYP3A5*3 | ||||||||||||||
| GG | 75 (82.4) | 4 (13.8) | 7 (70) | 86 (66.1) | 67 (83.7) | 1 (6.2) | 15 (75) | 83 (71.5) | ||||||
| AG and AA | 16 (17.6) | 25 (86.2) | 3 (30) | 44 (33.9) | 13 (16.3) | 15 (93.8) | 5 (25) | 33 (28.5) | ||||||
| GSTM1 deletion | ||||||||||||||
| Null | 42 (46.1) | 12 (41.4) | 5 (50) | 59 (45.4) | 37 (46.2) | 4 (25) | 5 (25) | 46 (39.7) | ||||||
| Nonnull | 49 (53.9) | 17 (58.6) | 5 (50) | 71 (54.6) | 43 (53.8) | 12 (75) | 15 (75) | 70 (60.3) | ||||||
| GSTP1 313A>G | ||||||||||||||
| GG | 9 (9.9) | 9 (31) | 3 (30) | 21 (16.2) | 15 (18.7) | 4 (25) | 1 (5) | 20 (17.2) | ||||||
| AG and AA | 82 (90.1) | 20 (69) | 7 (70) | 109 (83.8) | 65 (81.3) | 12 (75) | 19 (95) | 96 (82.8) | ||||||
| GSTT1 deletion | ||||||||||||||
| Null | 16 (17.6) | 3 (10.3) | 1 (10) | 20 (15.4) | 10 (12.5) | 5 (31.2) | 5 (25) | 20 (17.2) | ||||||
| Nonnull | 75 (82.4) | 26 (89.7) | 9 (90) | 110 (84.6) | 70 (87.5) | 11 (68.8) | 15 (75) | 96 (82.8) | ||||||
| MDR1 exon 21 G>T/A | ||||||||||||||
| GG | 19 (20.9) | 25 (86.2) | 5 (50) | 49 (37.7) | 24 (30) | 12 (75) | 6 (30) | 42 (36.2) | ||||||
| GT and others | 72 (79.1) | 4 (13.8) | 5 (50) | 81 (62.3) | 56 (70) | 4 (25) | 14 (70) | 74 (63.8) | ||||||
| MDR1 exon 26 C>T | ||||||||||||||
| CC | 14 (15.4) | 22 (75.9) | 2 (20) | 38 (29.2) | 20 (25) | 7 (43.7) | 5 (25) | 32 (27.6) | ||||||
| CT and TT | 77 (84.6) | 7 (24.1) | 8 (80) | 92 (70.8) | 60 (75) | 9 (56.3) | 15 (75) | 84 (72.4) | ||||||
| MTHFR 677C>T | ||||||||||||||
| CC | 40 (44) | 22 (75.9) | 6 (60) | 68 (52.3) | 36 (45) | 9 (56.3) | 9 (45) | 54 (46.5) | ||||||
| CT and TT | 51 (56) | 7 (24.1) | 4 (40) | 62 (47.7) | 44 (55) | 7 (43.7) | 11 (55) | 62 (53.5) | ||||||
| MTHFR 1298A>C | ||||||||||||||
| AA | 49 (53.9) | 19 (65.6) | 2 (20) | 70 (53.9) | 39 (48.7) | 11 (68.8) | 10 (50) | 60 (51.7) | ||||||
| AC and CC | 42 (46.1) | 10 (34.4) | 8 (80) | 60 (46.1) | 41 (51.3) | 5 (31.2) | 10 (50) | 56 (48.3) | ||||||
| NR3C1 1088A>G | ||||||||||||||
| AA | 86 (94.5) | 29 (100) | 9 (90) | 124 (95.4) | 78 (97.5) | 16 (100) | 20 (100) | 114 (98.3) | ||||||
| AG | 5 (5.5) | 0 (0) | 1 (10) | 6 (4.6) | 2 (2.5) | 0 (0) | 0 (0) | 2 (1.7) | ||||||
| RFC 80A>G | ||||||||||||||
| GG | 33 (36.3) | 8 (27.6) | 3 (30) | 44 (33.8) | 25 (31.2) | 4 (25) | 4 (20) | 33 (28.4) | ||||||
| AG and AA | 58 (63.7) | 21 (72.4) | 7 (70) | 86 (66.2) | 55 (68.8) | 12 (75) | 16 (80) | 83 (71.6) | ||||||
| TPMT combined genotypes | ||||||||||||||
| 238GG, 460GG and 719AA | 84 (92.3) | 28 (96.5) | 9 (90) | 121 (93.1) | 77 (96.3) | 15 (93.7) | 18 (90) | 110 (94.8) | ||||||
| Others | 7 (7.7) | 1 (3.5) | 1 (10) | 9 (6.9) | 3 (3.7) | 1 (6.3) | 2 (10) | 6 (5.2) | ||||||
| TYMS enhancer repeat | ||||||||||||||
| 3/3 | 23 (25.3) | 15 (51.7) | 5 (50) | 43 (33.1) | 19 (23.7) | 4 (25) | 12 (60) | 35 (30.2) | ||||||
| 2/2, 2/3 and others* | 68 (74.7) | 14 (48.3) | 5 (50) | 87 (66.9) | 61 (76.3) | 12 (75) | 8 (40) | 81 (69.8) | ||||||
| UGT1A1 promoter repeat | ||||||||||||||
| 7/7 | 8 (8.8) | 2 (6.9) | 1 (10) | 11 (8.5) | 7 (8.7) | 3 (18.7) | 4 (20) | 14 (12.1) | ||||||
| 6/6, 6/7 and others† | 83 (91.2) | 27 (93.1) | 9 (90) | 119 (91.5) | 73 (91.3) | 13 (81.3) | 16 (80) | 102 (87.9) | ||||||
| VDR intron 8 G>A | ||||||||||||||
| GG | 39 (42.9) | 18 (62.1) | 4 (40) | 61 (46.9) | 30 (37.5) | 9 (56.3) | 12 (60) | 51 (44) | ||||||
| GA and AA | 52 (57.1) | 11 (37.9) | 6 (60) | 69 (53.1) | 50 (62.5) | 7 (43.7) | 8 (40) | 65 (56) | ||||||
| VDR Fokl | ||||||||||||||
| CC | 37 (40.7) | 17 (58.6) | 5 (50) | 59 (45.4) | 30 (37.5) | 10 (62.5) | 13 (65) | 53 (45.7) | ||||||
| TC and T T | 54 (59.3) | 12 (41.4) | 5 (50) | 71 (54.6) | 50 (62.5) | 6 (37.5) | 7 (35) | 63 (54.3) | ||||||
. | No. patients, higher-risk arm (%) . | . | . | . | No. patients, lower-risk arm (%) . | . | . | . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Loci and genotypes . | Whites . | Blacks . | Others . | Total . | Whites . | Blacks . | Others . | Total . | ||||||
| CYP3A4*1B | ||||||||||||||
| AA | 88 (96.7) | 4 (13.8) | 8 (80) | 100 (76.9) | 75 (93.7) | 3 (18.7) | 19 (95) | 97 (83.6) | ||||||
| AG and GG | 3 (3.3) | 25 (86.2) | 2 (20) | 30 (23.1) | 5 (6.3) | 13 (81.3) | 1 (5) | 19 (16.4) | ||||||
| CYP3A5*3 | ||||||||||||||
| GG | 75 (82.4) | 4 (13.8) | 7 (70) | 86 (66.1) | 67 (83.7) | 1 (6.2) | 15 (75) | 83 (71.5) | ||||||
| AG and AA | 16 (17.6) | 25 (86.2) | 3 (30) | 44 (33.9) | 13 (16.3) | 15 (93.8) | 5 (25) | 33 (28.5) | ||||||
| GSTM1 deletion | ||||||||||||||
| Null | 42 (46.1) | 12 (41.4) | 5 (50) | 59 (45.4) | 37 (46.2) | 4 (25) | 5 (25) | 46 (39.7) | ||||||
| Nonnull | 49 (53.9) | 17 (58.6) | 5 (50) | 71 (54.6) | 43 (53.8) | 12 (75) | 15 (75) | 70 (60.3) | ||||||
| GSTP1 313A>G | ||||||||||||||
| GG | 9 (9.9) | 9 (31) | 3 (30) | 21 (16.2) | 15 (18.7) | 4 (25) | 1 (5) | 20 (17.2) | ||||||
| AG and AA | 82 (90.1) | 20 (69) | 7 (70) | 109 (83.8) | 65 (81.3) | 12 (75) | 19 (95) | 96 (82.8) | ||||||
| GSTT1 deletion | ||||||||||||||
| Null | 16 (17.6) | 3 (10.3) | 1 (10) | 20 (15.4) | 10 (12.5) | 5 (31.2) | 5 (25) | 20 (17.2) | ||||||
| Nonnull | 75 (82.4) | 26 (89.7) | 9 (90) | 110 (84.6) | 70 (87.5) | 11 (68.8) | 15 (75) | 96 (82.8) | ||||||
| MDR1 exon 21 G>T/A | ||||||||||||||
| GG | 19 (20.9) | 25 (86.2) | 5 (50) | 49 (37.7) | 24 (30) | 12 (75) | 6 (30) | 42 (36.2) | ||||||
| GT and others | 72 (79.1) | 4 (13.8) | 5 (50) | 81 (62.3) | 56 (70) | 4 (25) | 14 (70) | 74 (63.8) | ||||||
| MDR1 exon 26 C>T | ||||||||||||||
| CC | 14 (15.4) | 22 (75.9) | 2 (20) | 38 (29.2) | 20 (25) | 7 (43.7) | 5 (25) | 32 (27.6) | ||||||
| CT and TT | 77 (84.6) | 7 (24.1) | 8 (80) | 92 (70.8) | 60 (75) | 9 (56.3) | 15 (75) | 84 (72.4) | ||||||
| MTHFR 677C>T | ||||||||||||||
| CC | 40 (44) | 22 (75.9) | 6 (60) | 68 (52.3) | 36 (45) | 9 (56.3) | 9 (45) | 54 (46.5) | ||||||
| CT and TT | 51 (56) | 7 (24.1) | 4 (40) | 62 (47.7) | 44 (55) | 7 (43.7) | 11 (55) | 62 (53.5) | ||||||
| MTHFR 1298A>C | ||||||||||||||
| AA | 49 (53.9) | 19 (65.6) | 2 (20) | 70 (53.9) | 39 (48.7) | 11 (68.8) | 10 (50) | 60 (51.7) | ||||||
| AC and CC | 42 (46.1) | 10 (34.4) | 8 (80) | 60 (46.1) | 41 (51.3) | 5 (31.2) | 10 (50) | 56 (48.3) | ||||||
| NR3C1 1088A>G | ||||||||||||||
| AA | 86 (94.5) | 29 (100) | 9 (90) | 124 (95.4) | 78 (97.5) | 16 (100) | 20 (100) | 114 (98.3) | ||||||
| AG | 5 (5.5) | 0 (0) | 1 (10) | 6 (4.6) | 2 (2.5) | 0 (0) | 0 (0) | 2 (1.7) | ||||||
| RFC 80A>G | ||||||||||||||
| GG | 33 (36.3) | 8 (27.6) | 3 (30) | 44 (33.8) | 25 (31.2) | 4 (25) | 4 (20) | 33 (28.4) | ||||||
| AG and AA | 58 (63.7) | 21 (72.4) | 7 (70) | 86 (66.2) | 55 (68.8) | 12 (75) | 16 (80) | 83 (71.6) | ||||||
| TPMT combined genotypes | ||||||||||||||
| 238GG, 460GG and 719AA | 84 (92.3) | 28 (96.5) | 9 (90) | 121 (93.1) | 77 (96.3) | 15 (93.7) | 18 (90) | 110 (94.8) | ||||||
| Others | 7 (7.7) | 1 (3.5) | 1 (10) | 9 (6.9) | 3 (3.7) | 1 (6.3) | 2 (10) | 6 (5.2) | ||||||
| TYMS enhancer repeat | ||||||||||||||
| 3/3 | 23 (25.3) | 15 (51.7) | 5 (50) | 43 (33.1) | 19 (23.7) | 4 (25) | 12 (60) | 35 (30.2) | ||||||
| 2/2, 2/3 and others* | 68 (74.7) | 14 (48.3) | 5 (50) | 87 (66.9) | 61 (76.3) | 12 (75) | 8 (40) | 81 (69.8) | ||||||
| UGT1A1 promoter repeat | ||||||||||||||
| 7/7 | 8 (8.8) | 2 (6.9) | 1 (10) | 11 (8.5) | 7 (8.7) | 3 (18.7) | 4 (20) | 14 (12.1) | ||||||
| 6/6, 6/7 and others† | 83 (91.2) | 27 (93.1) | 9 (90) | 119 (91.5) | 73 (91.3) | 13 (81.3) | 16 (80) | 102 (87.9) | ||||||
| VDR intron 8 G>A | ||||||||||||||
| GG | 39 (42.9) | 18 (62.1) | 4 (40) | 61 (46.9) | 30 (37.5) | 9 (56.3) | 12 (60) | 51 (44) | ||||||
| GA and AA | 52 (57.1) | 11 (37.9) | 6 (60) | 69 (53.1) | 50 (62.5) | 7 (43.7) | 8 (40) | 65 (56) | ||||||
| VDR Fokl | ||||||||||||||
| CC | 37 (40.7) | 17 (58.6) | 5 (50) | 59 (45.4) | 30 (37.5) | 10 (62.5) | 13 (65) | 53 (45.7) | ||||||
| TC and T T | 54 (59.3) | 12 (41.4) | 5 (50) | 71 (54.6) | 50 (62.5) | 6 (37.5) | 7 (35) | 63 (54.3) | ||||||
All 16 genotypes are presented in the binary groups used for analysis, and the number of patients carrying those genotypes is shown in absolute numbers and in percentage (in parentheses). The most common allele for each locus is underlined. For CYP3A4*1B, CYP3A5*3, GSTP1 313A>G, MDR1 exon 21 (2677G>T/A), MDR1 exon 26 (3435C>T), MTHFR 677C>T, MTHFR 1298A>C, RFC 80G>A, VDR intron8 G>A, and VDR Fokl T>C loci, genotypes were pooled according to their significant association with outcome, as described in “Patients, materials, and methods.”
Rare genotypes: TYMS 2/9 (n = 1), 3/4 (n = 3), 3/7 (n = 1).
Rare genotypes: UGT1A1 5/6 (n = 6), 5/7 (n = 2), 6/8 (n = 2), 7/8 (n = 2).