Genomics Inform > Volume 11(4); 2013 > Article |
Demographic characteristics | CNS ADR-Yes | CNS ADR-No | p-value |
---|---|---|---|
Gender | |||
Male | 18 (43.9) | 66 (52.0) | 0.473b |
Female | 23 (56.1) | 61 (48.0) | |
Age (y) | 36.32 ± 10.12 | 33.65 ± 10.27 | 0.149c |
Seizure type | |||
Partial | 37 (90.2) | 111 (87.4) | 0.143b |
Generalized | 3 (7.3) | 16 (12.6) | |
Undetermined | 1 (2.4) | 0 (0.0) | |
Epilepsies | |||
LRE cryptogenic | 20 (48.8) | 76 (59.8) | 0.345b |
LRE symptomatic | 17 (41.5) | 35 (27.6) | |
Generalized idiopathic | 2 (4.9) | 11 (8.7) | |
Undetermined | 2 (4.9) | 3 (2.4) | |
Sclerosis | 12 (29.3) | 48 (37.8) | 0.354b |
History of AED | |||
Carbamazepine (CBZ) | 19 (46.3) | 49 (38.6) | 0.465b |
Lamotrigine (LTG) | 29 (70.7) | 91 (71.7) | >0.999b |
Topiramate (TPM) | 22 (53.7) | 49 (38.6) | 0.103b |
Phenytoin (PHT) | 7 (17.1) | 23 (18.1) | >0.999b |
Drug response | |||
Resistanta epilepsy | 26 (63.4) | 72 (56.7) | 0.472b |
Responsive epilepsy | 15 (36.6) | 55 (43.3) | |
No. of using drugs | 3.76 ± 1.51 | 3.22 ± 1.40 | 0.039c,* |
Values are presented as number (%).
VPA, valproic acid; CNS, central nervous system; ADR, adverse drug reaction; LRE, localization related epilepsy; AED, antiepileptic drug.
Variant | Allele | Control |
Epilepsy patient |
p-value | |
---|---|---|---|---|---|
CNS ADR-Yes | CNS ADR-No | ||||
g.‒1774delG | G | 146 (66.4) | 65 (79.3) | 158 (62.7) | 0.0057** |
del | 74 (33.6) | 17 (20.7) | 94 (37.3) | ||
g.‒1549G > A | G | 174 (79.1) | 59 (72.0) | 199 (80.2) | 0.1151 |
A | 46 (20.6) | 23 (28.0) | 49 (19.8) | ||
g.‒24C > T | C | 182 (72.7) | 54 (65.9) | 198 (78.0) | 0.0278* |
rs717620 | T | 38 (17.3) | 28 (34.1) | 56 (22.0) | |
g.‒23G > A | G | 215 (97.7) | 82 (100.0) | 253 (99.6) | 0.5693 |
A | 5 (2.3) | 0 (0.0) | 1 (0.4) | ||
c.1249G > A | G | 199 (90.5) | 73 (89.0) | 235 (92.5) | 0.3194 |
(p.V417I, rs2273697) | A | 21 (9.5) | 9 (11.0) | 19 (7.5) | |
c.1457C > T | C | 217 (98.6) | 82 (100.0) | 254 (100.0) | - |
(p.T486I) | T | 3 (1.4) | 0 (0.0) | 0 (0.0) | |
c.2620 + 3A > G | A | 220 (100) | 82 (100.0) | 254 (100.0) | - |
G | 0 | 0 (0.0) | 0 (0.0) | ||
c.2934G > A | G | 209 (95.0) | 79 (96.3) | 244 (96.1) | 0.9095 |
(p.S978S, rs3740070) | A | 11 (5.0) | 3 (3.7) | 10 (3.9) | |
c.3972C > T | C | 169 (76.8) | 53 (64.6) | 192 (75.6) | 0.0522 |
(p.I1324I, rs3740066) | T | 51 (23.2) | 29 (35.4) | 62 (24.4) | |
c.4147 ‒ 35G > A | G | 217 (98.6) | 80 (97.6) | 253 (99.6) | 0.0869 |
A | 3 (1.4) | 2 (2.4) | 1 (0.4) | ||
c.4508 + 12G > A | G | 218 (99.1) | 82 (100.0) | 254 (100.0) | - |
A | 2 (0.9) | 0 (0.0) | 0 (0.0) |
Variant | Control |
Epilepsy patient |
p-value | ||
---|---|---|---|---|---|
CNS ADR-Yes | CNS ADR-No | ||||
g.‒1774delG | +/+a | 50 (45.5) | 25 (61.0) | 50 (39.7) | 0.019* |
+/‒ | 46 (41.8) | 15 (36.6) | 58 (46.0) | ||
‒/‒ | 14 (12.7) | 1 (2.4) | 18 (14.3) | ||
g.‒1549G > A | +/+ | 66 (60.0) | 21 (51.2) | 82 (66.1) | 0.440 |
+/‒ | 42 (38.2) | 17 (41.5) | 35 (28.2) | ||
‒/‒ | 2 (1.8) | 3 (7.3) | 7 (5.6) | ||
g.‒24C > T | +/+ | 74 (67.3) | 17 (41.5) | 79 (62.2) | 0.243 |
rs717620 | +/‒ | 34 (30.9) | 20 (48.8) | 40 (31.5) | |
‒/‒ | 2 (1.8) | 4 (9.8) | 8 (6.3) | ||
g.‒23G > A | +/+ | 105 (95.5) | 41 (100.0) | 126 (99.2) | >0.999 |
+/‒ | 5 (4.5) | 0 (0.0) | 1 (0.8) | ||
c.1249G > A | +/+ | 92 (83.6) | 32 (78.0) | 109 (85.8) | >0.999 |
(p.V417I) | +/‒ | 15 (13.6) | 9 (22.0) | 17 (13.4) | |
rs2273697 | ‒/‒ | 3 (2.7) | 0 (0.0) | 1 (0.8) | |
c.1457C > T | +/+ | 107 (97.3) | 41 (100.0) | 127 (100.0) | - |
(p.T486I) | +/‒ | 3 (2.7) | 0 (0.0) | 0 (0.0) | |
c.2620 + 3A > G | +/+ | 110 (100.0) | 41 (100.0) | 127 (100.0) | - |
c.2934G > A | +/+ | 100 (90.9) | 38 (92.7) | 117 (92.1) | - |
(p.S978S) | +/‒ | 9 (8.2) | 3 (7.3) | 10 (7.9) | |
rs3740070 | ‒/‒ | 1 (0.9) | 0 (0.0) | 0 (0.0) | |
c.3972C > T | +/+ | 61 (55.5) | 17 (41.5) | 74 (58.3) | 0.164 |
(p.I1324I) | +/‒ | 47 (42.7) | 19 (46.3) | 44 (34.6) | |
rs3740066 | ‒/‒ | 2 (1.8) | 5 (12.2) | 9 (7.1) | |
c.4147 ‒ 35G > A | +/+ | 107 (97.3) | 39 (95.1) | 126 (99.2) | 0.141 |
+/‒ | 3 (2.7) | 2 (4.9) | 1 (0.8) | ||
c.4508 + 12G > A | +/+ | 108 (98.2) | 41 (100.0) | 127 (100.0) | - |
+/‒ | 2 (1.8) | 0 (0.0) | 0 (0.0) |
ID | ‒1774 Gdel | ‒1549 G/A | ‒24C/T | ‒23G/A | V471I | T486I | 2620+ 3A/G | 2934 G/A | 3972C/ T | 4147- 35G/A | 4508+ 12G/A |
Group |
||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Control | CNS ADR-Yes | CNS ADR-No | ||||||||||||
1 | del | G | C | G | V | C | A | G | C | G | G | 69 (31.3) | 13 (15.8) | 82 (32.3)** |
2 | G | G | C | G | V | C | A | G | C | G | G | 54 (24.4) | 24 (29.0) | 65 (25.7) |
3 | G | A | T | G | V | C | A | G | T | G | G | 31 (14.2) | 18 (22.3)* | 29 (11.4) |
4 | G | G | C | G | I | C | A | G | C | G | G | 19 (8.7) | 8 (9.3) | 17 (6.7) |
5 | G | G | T | G | V | C | A | G | T | G | G | 4 (1.7) | 9 (10.6) | 25 (9.8) |
ㆍ | ㆍ | ㆍ | ㆍ | ㆍ | ㆍ | ㆍ | ㆍ | ㆍ | ㆍ | ㆍ | ㆍ | ㆍ | ㆍ | ㆍ |
Total | 220 | 82 | 254 |
Values are presented as number (%).
Haplotypes were assembled using a software based on the Bayesian algorithm (Haploview, ref. No.). Major haplotypes showing over 5% frequency in control and epilepsy patients are presented in this table. Haplotype identification (ID) numbers were assigned according to the frequency of haploid genes analyzed in this study.
CNS, central nervous system; ADR, adverse drug reaction.
Differences between CNS ADR-Yes and -No groups were analyzed by chi-square analysis.
Variable | Odd ratio (95% CI) | p-value |
---|---|---|
Presence of g.–1774 G/Ga | 3.379 (1.177–9.701) | 0.0363* |
Genderb | 0.72 (0.33–1.53) | 0.3909 |
Age | 1.03 (0.99–1.07) | 0.0929 |
Sclerosis | 0.56 (0.24–1.31) | 0.1835 |
Valproic acid dose | 1.002 (1.000–1.003) | 0.0795 |
Carbamazepine _use | 1.46 (0.67–3.17) | 0.3368 |
Lamotrigine _use | 0.83 (0.34–2.03) | 0.6867 |
Topiramate _use | 1.71 (0.77–3.81) | 0.1896 |
Phenytoin _use | 0.68 (0.24–1.88) | 0.4548 |