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. 2021 Nov 29;13(12):2036. doi: 10.3390/pharmaceutics13122036

Table 4.

Genotype and allele frequencies of the identified DPYD variants among cases and controls.

DPYD Variant Genotype or Allele Cases Controls Total p DPYD Variant Genotype or Allele Cases Controls Total p
*9A
c.85T > C
Cys29Arg
rs1801265		 *1/*1 7 (63.6%) 13 (59.1%) 20 (60.6%) 0.769 c.1129-15T > C
rs56293913		 TT 11 (100%) 18 (81.8%) 29 (87.9%) 0.131
*1/*9 4 (36.4%) 8 (36.4%) 12(36.4%) TC 0 (0%) 4 (18.2%) 4 (12.1%)
*9/*9 0 (0%) 1 (4.5%) 1 (3%) CC 0 (0%) 0 (0%) 0 (0%)
*1 18 (81.8%) 34 (77.3%) 52 (78.8%) 0.759 T 22 (100%) 40 (90.9%) 62 (93.9%) 0.380
*9 4 (18.2%) 10 (22.7%) 14 (21.2%) C 0 (0%) 4 (9.1%) 4 (6.1%)
c.187A > G
p.Lys63Glu
rs367619008		 AA 10 (90.9%) 22 (100%) 32 (97.0%) 0.151 c.1627A > G
p.Ile543Val
rs1801159		 TT 9 (81.8%) 18 (81.8%) 27 (81.8%) 0.354
AG 1 (9.1%) 0 (0%) 1 (3%) TG 1 (9.1%) 4 (18.2%) 5 (15.2%)
GG 0 (0%) 0 (0%) 0 (0%) GG 1 (9.1%) 0 (0%) 1(3%)
A 21 (95.5%) 44 (100%) 65 (98.5%) 0.541 T 19 (86.4%) 40 (90.9%) 59 (89.4%) 0.690
G 1 (4.5%) 0 (0%) 1 (1.5%) G 3 (13.6%) 4 (9.1%) 7 (10.6%)
c.234-81G > A GG 11 (100%) 21 (95.5%) 32 (97.0%) 0.473 c.1740 + 39 C > T
rs2786783		 CC 9 (81.8%) 21 (95.5%) 30 (90.9%) 0.301
GA 0 (0%) 1 (4.5%) 1 (3%) CT 1 (9.1%) 1 (4.5%) 2 (6.1%)
AA 0 (0%) 0 (0%) 0 (0%) TT 1 (9.1%) 0 (0%) 1(3%)
G 22 (100%) 43 (97.7%) 65 (98.5%) 0.688 C 19 (86.4%) 43 (97.7%) 62 (93.9%) 0.035
A 0 (0%) 1 (2.3%) 1 (1.5%) T 3 (13.6%) 1 (2.3%) 4 (6.1%)
c.322-63G > C
rs944174134		 GG 10 (90.9%) 22 (100%) 32 (97.0%) 0.151 c.1740 + 40A > G
rs2811178		 AA 1 (9.1%) 4 (18.2%) 5 (15.2%) 0.705
GC 1 (9.1%) 0 (0%) 1 (3%) AG 7 (63.6%) 11 (50%) 18 (54.5%)
CC 0 (0%) 0 (0%) 0 (0%) GG 3 (27.3%) 7 (31.8%) 10 (30.3%)
G 21 (95.5%) 44 (100%) 65 (98.5%) 0.541 A 9 (40.9%) 19 (43.2%) 28 (42.4%) 0.860
C 1 (4.5%) 0 (0%) 1 (1.5%) G 13 (59.1%) 25 (56.8%) 38 (57.6%)
c.496A > G
p.Met166Val
rs2297595		 AA 11 (100%) 16 (72.7%) 27 (81.8%) 0.056 c.1896T > C
p.Phe632Phe
rs17376848		 TT 11 (100%) 20 (90.9%) 31 (93.9%) 0.302
AG 0 (0%) 6 (27.3%) 6 (18.2%) TC 0 (0%) 2 (9.1%) 2 (6.1%)
GG 0 (0%) 0 (0%) 0 (0%) CC 0 (0%) 0 (0%) 0 (0%)
A 22 (100%) 38 (86.4%) 60 (90.9%) 0.190 T 22 (100%) 42 (95.5%) 64 (97.0%) 0.980
G 0 (0%) 6 (13.6%) 6 (9.1%) C 0 (0%) 2 (4.5%) 2 (3%)
c.763-118A > G
N/A
rs3790387		 AA 11 (100%) 18 (81.8%) 29 (87.9%) 0.131 c.2058 + 101 T > C
rs1890138		 TT 11 (100%) 18 (81.8%) 29 (87.8%) 0.320
AG 0 (0%) 4 (18.2%) 4 (12.1%) TC 0 (0%) 2 (9.1%) 2 (6.1%)
GG 0 (0%) 0 (0%) 0 (0%) CC 0 (0%) 2 (9.1%) 2 (6.1%)
A 22 (100%) 40 (90.9%) 62 (93.9%) 0.380 T 22 (100%) 38 (86.4%) 60 (90.9%) 0.190
G 0 (0%) 4 (9.1%) 4 (6.1%) C 0 (0%) 6 (13.6%) 6 (9.1%)
c.958 + 134T > G
rs2811202		 TT 11 (100%) 18 (81.8%) 29 (87.9%) 0.131 c.2194G > A
p.Val732Ile
rs1801160		 GG 10 (90.9%) 19 (86.4%) 29 (87.9%) 0.706
TG 0 (0%) 4 (18.2%) 4 (12.1%) GA 1 (9.1%) 3 (13.6%) 4 (12.1%)
GG 0 (0%) 0 (0%) 0 (0%) AA 0 (0%) 0 (0%) 0 (0%)
T 22 (100%) 40 (90.9%) 62 (93.9%) 0.380 G 21 (95.5%) 41 (93.2%) 62 (93.9%) 0.333
G 0 (0%) 4 (9.1%) 4 (6.1%) A 1 (4.5%) 3 (6.8%) 4 (6.1%)
c.1084G > A
p.Val362Ile
rs76387818		 GG 10 (90.9%) 22 (100%) 32 (97.0%) 0.151 c.2300-39 G > A
rs12137711		 GG 9 (81.8%) 20 (90.9%) 29 (87.9%) 0.451
GA 1 (9.1%) 0 (0%) 1 (3%) GA 2 (18.2%) 2 (9.1%) 4 (12.1%)
AA 0 (0%) 0 (0%) 0 (0%) AA 0 (0%) 0 (0%) 0 (0%)
G 21 (95.5%) 44 (100%) 65 (98.5%) 0.541 G 20 (81.8%) 42 (95.5%) 62 (93.9%) 0.684
A 1 (4.5%) 0 (0%) 1 (1.5%) A 2 (9.1%) 2 (4.5%) 4 (6.1%)
c.2324T > G
p.Leu775Trp
rs200643089		 TT 10 (90.9%) 22 (100%) 32 (97.0%) 0.151
TG 1 (9.1%) 0 (0%) 1 (3%)
GG 0 (0%) 0 (0%) 0 (0%)
T 21 (95.5%) 44 (100%) 65 (98.5%) 0.541
G 1 (4.5%) 0 (0%) 1 (1.5%)