Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy
Table 2
Genotypes/alleles frequencies of SCN1A (2A) and UGT2B7 in VPA responsive and VPA resistant groups ().
Genes
SNPs
Genotypes/alleles
VPA responsive
VPA resistant
OR (95% CI)
value
SCN1A
rs1381105
GG
57 (63.3)
11 (45.8)
Reference
GT
27 (30.0)
13 (54.2)
0.36 (0.14-0.94)
0.039
TT
6 (6.7)
0 (0.0)
—
GT+TT
33 (36.7)
13 (54.2)
0.49 (0.19-1.229)
0.129
G
141 (78.3)
35 (72.9)
Reference
T
39 (21.7)
13 (27.1)
0.78 (0.38-1.69)
0.516
SCN1A
rs2162600
TT
65 (72.2)
12 (50.0)
Reference
TC
22 (24.4)
11 (45.8)
0.34 (0.13-0.92)
0.033
CC
3 (3.3)
1 (4.2)
0.46 (0.05-9.96)
0.524
TC+CC
25 (27.8)
12 (50.0)
0.36 (0.14-0.92)
0.033
T
152 (84.4)
35 (72.9)
Reference
C
28 (15.6)
13 (27.1)
0.46 (0.22-1.02)
0.049
SCN2A
rs10197716
AA
27 (30.0)
3 (12.5)
Reference
AG
45 (50.0)
12 (50.0)
0.35 (0.07-1.31)
0.148
GG
18 (20.0)
9 (37.5)
0.19 (0.04-0.78)
0.030
AG+GG
63 (70.0)
21 (87.5)
2.50 (0.89-6.67)
0.075
A
99 (55.5)
18 (37.5)
Reference
G
81 (45.5)
30 (62.5)
0.46 (0.23-0.90)
0.024
SCN2A
rs2119068
CC
24 (26.7)
12 (52.2)
Reference
CG
49 (54.4)
10 (43.5)
2.37 (0.88-6.61)
0.091
GG
17 (18.9)
1 (4.3)
9.09 (1.51-176.64)
0.045
CG+GG
66 (73.3)
11 (47.8)
3.01 (1.15-8.03)
0.025
C
97 (53.9)
34 (73.9)
Reference
G
83 (46.1)
12 (26.1)
2.48 (1.22-5.33)
0.015
SCN2A
rs2119067
TT
52 (57.8)
10 (41.7)
Reference
TC
34 (37.8)
14 (58.3)
0.37 (0.13-0.96)
0.045
CC
4 (4.4)
0 (0.0)
—
TC+CC
38 (42.2)
14 (58.3)
0.40 (0.15-1.05)
0.067
T
138 (76.7)
34 (70.8)
Reference
C
42 (23.3)
14 (29.2)
0.62 (0.30-1.33)
0.209
SCN2A
rs353116
TT
30 (34.5)
14 (58.3)
Reference
CT
41 (47.1)
8 (33.3)
2.81 (1.01-8.43)
0.053
CC
16 (18.4)
2 (8.3)
5.83 (1.24-45.05)
0.046
CT+CC
57 (65.5)
10 (41.7)
2.34 (1.27-9.37)
0.017
T
101 (58.0)
36 (75.0)
Reference
C
73 (42.0)
12 (25.0)
2.62 (1.27-5.80)
0.012
SCN2A
rs353112
GG
38 (42.2)
16 (66.7)
Reference
GC
40 (44.4)
8 (33.3)
2.40 (0.91-6.83)
0.084
CC
12 (13.3)
0 (0.0)
—
GC+CC
52 (57.8)
8 (33.3)
3.16 (1.21-8.91)
0.022
G
116 (64.4)
40 (83.3)
Reference
C
64 (35.6)
8 (16.7)
3.07 (1.39-7.60)
0.009
SCN2A
rs6740895
TT
53 (58.9)
21 (87.5)
Reference
CT
30 (33.3)
3 (12.5)
5.80 (1.65-28.94)
0.014
CC
7 (7.8)
0 (0.0)
—
CT+CC
37 (41.1)
3 (12.5)
7.02 (2.03-34.46)
0.006
T
136 (75.6)
45 (93.8)
Reference
C
44 (24.4)
3 (6.2)
5.91 (1.96-25.84)
0.005
OR: odds ratio; CI: confidence interval; SNPs: single-nucleotide polymorphisms; VPA: valproic acid. Due to no significant SNP in the recessive model, it is not listed in the table.
