Table 2.
Genotypes/alleles frequencies of SCN1A (2A) and UGT2B7 in VPA responsive and VPA resistant groups (p < 0.05).
| Genes | SNPs | Genotypes/alleles | VPA responsive | VPA resistant | OR (95% CI) | p 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.