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. 2012 Feb 19;2012:863702. doi: 10.1155/2012/863702

Table 2.

Genomic variations associated which sporadic TLE cases.

Gene Variation
(accession number)		 Reference Group or subgroup of patients Population origin Genomic variation counts P value
Patients, n (%) Controls, n (%)
GABBR1 c.1465G>A → p.Gly489Ser Gambardella et al. 2003 [56]
 Nonlesional TLE Caucasian n = 141 n = 372 <0.0001
(CM031183) Initial study A/A = 0 (0.0) A/A = 0 (0.0)
A/G = 24 (17.0) A/G = 2 (0.5)
G/G = 117 (83.0) G/G = 370 (99.5)
Cavalleri et al. 2005 [5] Nonlesional TLE Caucasian n = 245 n = 1089 NS
Replication study A/A = 0 (0.0) A/A = 0 (0.0)
A/G = 2 (1.0) A/G = 8 (1.0)
G/G = 218 (99.0) G/G = 1062 (99.0)
Ma et al. 2005 [57] TLE-FS+ Caucasian n = 120 n = 118 NS
A/A = 0 (0.0) A/A = 1 (0.85)
A/G = 1 (0.84) A/G = 0 (0.0)
G/G = 119 (99.16) G/G = 117 (99.15)
Salzmann et al. 2005 [58] Replication study Nonlesional TLE Caucasian n = 110 n = 145 NS
A/A = (0.0) A/A = (0.0)
A/G = 2 (1.82) A/G = (0.0)
G/G = 108 (98.18) G/G = 145 (100)
Tan et al. 2005 [59] Replication study Nonlesional TLE Caucasian n = 234 n = 164 NS
A/A = (0.0) A/A = (0.0)
A/G = 1 (0.4) A/G = 1 (0.6)
G/G = 233 (99.6) G/G = 163 (99.4)
Stögmann et al. 2006 [60] TLE Caucasian n = 188 n = 259 NS
A/A = 0 (0.0) A/A = 0 (0.0)
A/G = 2 (1.1) A/G = 0 (0.0)
G/G = 186 (98.9) G/G = 259 (100)
Ren et al. 2005 [61] Nonlesional TLE Chinese n = 112 n = 124 NS
A/A = 0 (0.0) A/A = 0 (0.0)
A/G = 0 (0.0) A/G = 0 (0.0)
G/G = 112 (100) G/G = 124 (100)
Wang et al. 2008 [62] TLE Chinese n = 315 n = 318 NS
A/A = 0 (0.0) A/A = 0 (0.0)
A/G = 0 (0.0) A/G = 0 (0.0)
G/G = 315 (100) G/G = 318 (100)
Kauffman et al. 2008 [63] TLE-HS+ Argentinean n = 102 n = 71 3.788e−8
A/A = 0 (0.0) A/A = 0 (0.0)
A/G = 49 (48.0) A/G = 6 (8.5)
G/G = 53 (52.0) G/G = 65 (91.5)
GABBR2 G>A → intron 1 Wang et al. 2008 [62] TLE Chinese n = 315 n = 318 0.003
(rs967932) Initial study A/A = 72 (22.64) A/A = 63 (20.0)
A/G = 164 (51.57) A/G = 136 (43.17)
G/G = 82 (25.79) G/G = 116 (36.83)
PDYN 68 bp tandem repeat → promoter Stögmann et al. 2002 [64] Nonlesional TLE, Caucasian n = 43 n = 202 0.005
H-allele = 3 or 4 repeats Initial study familial risk L/L = 10 (23.3) L/L = 18 (8.9)
L-allele = 1 or 2 repeats L/H = 23 (53.5) L/H = 88 (43.6)
(rs71193945) H/H = 10 (23.3) H/H = 96 (47.5)
Gambardella et al. 2003 [65] Replication study Nonlesional TLE, familial risk Caucasian n = 115 n = 259 NS
L/L = 9 (7.8) L/L = 16 (6.2)
L/H = 40 (34.8) L/H = 105 (40.5)
H/H = 66 (57.4) H/H = 138 (53.3)
Tilgen et al. 2003 [66] Replication study Nonlesional TLE, familial risk Caucasian n = 46 n = 205 NS
L/L = 3 (7.0) L/L = 22 (11.0)
L/H = 21 (45.0) L/H = 84 (41.0)
H/H = 22 (48.0) H/H = 99 (48.0)
Cavalleri et al. 2005 [5] Replication study Nonlesional TLE, familial risk Caucasian n = 50 n = 384 NS
L/L = 8 (17.0) L/L = 30 (8.0)
L/H = 22 (47.0) L/H = 160 (44.0)
H/H = 17 (36.0) H/H = 175 (48.0)
Salzmann et al. 2008 [67] Replication study Nonlesional TLE, familial risk Caucasian n = 21 n = 206 NS
L/L = 2 (9.5) L/L = 14 (6.8)
L/H = 11 (52.4) L/H = 78 (37.9)
H/H = 8 (38.1) H/H = 114 (55.3)
Kauffman et al. 2008 [68] Nonlesional TLE, familial risk Argentinean n = 18 n = 86 NS
L/L = 1 (5.5) L/L = 8 (9.3)
L/H = 8 (44.5) L/H = 37 (43.0)
H/H = 9 (50.0) H/H = 41 (47.7)
ApoE Isoform ε4 (CI056481) Gambardella et al. 1999 [69] Nonlesional TLE Caucasian n = 63 NS
Initial study ε4+ = 5; years not indicated
ε4−= 58; years not indicated
Briellmann et al. 2000 [70] Early onset of TLE Caucasian n = 43 0.004
Replication study associated with ε4 ε4+ = 10;  5 ± 5  years
ε4−= 33;  10 ± 15  years
Cavalleri et al. 2005 [5] Early onset of TLE Caucasian n = 181 NS
Replication study associated with ε4 ε4+ = 30;  13.7 ± 10  years
ε4−= 151;  16.7 ± 11  years
Gambardella et al. 2005 [71] Early onset of TLE Caucasian n = 13 NS
Replication study associated with ε4 ε4+ = 24; 26.2 ± 20.1 years
ε4−= 114; 33.9 ± 20.7 years
Yeni et al. 2005 [72] Early onset of Turkish n = 47 NS
TLE-HS+ ε4+ = 8; 7.44 ± 6.13 years
associated with ε4 ε4− = 39; 8.75 ± 7.61 years
Salzmann et al. 2008 [67] Early onset of TLE Caucasian n = 106 0.003
Replication study associated with ε4 ε4+ = 26; 10.54 ± 6.36 years
ε4−= 80; 16.51 ± 9.90 years
Kauffman et al. 2010 [73] Early onset of Argentinean n = 78 NS
TLE-HS+ ε4+ = 23; 14.3 ± 12.13 years
associated with ε4 ε4− = 55; 16.5 ± 12.54 years
IL-1α c.−889C>T → promoter Kanemoto et al. 2000 [74] TLE-HS+/− Japanese TLE-HS+ n = 112 TLE-HS+ versus
Allele 1 = C Initial study n = 50 1/1 = 87 (77.7) controls = NS
Allele 2 = T (unknown) 1/1 = 38 (76.0) 1/2 = 25 (22.3)
1/2 = 10 (20.0) 2/2 = 0 (0.0)
2/2 = 2 (4.0)
TLE-HS− TLE-HS− versus
n = 53 controls = NS
1/1 = 44 (83.0)
1/2 = 8 (15.1)
2/2 = 1 (1.9)
Ozkara et al. 2006 [75] TLE-HS+ Turkish n = 47 n = 99 NS
1/1 = 23 (48.9) 1/1 = 37 (37.3)
1/2 = 23 (48.9) 1/2 = 52 (52.5)
2/2 = 1 (2.1) 2/2 = 10 (10.1)
Ozkara et al. 2006 [75] TLE-FS+/− Turkish TLE-FS+ TLE-FS+ versus
Initial study n = 28 TLE-FS− = NS
1/1 = 16 (57.1)
1/2 = 12 (42.8)
2/2 = 0 (0.0)
TLE-FS−
n = 19
1/1 = 9 (47.3)
1/2 = 10 (52.6)
2/2 = 0 (0.0)
Salzmann et al. 2008 [67] TLE-HS+/− Caucasian TLE-HS+ n = 235 TLE-HS+ versus
n = 86 1/1 = 99 (42.1) controls = 0.027
1/1 = 50 (58.1) 1/2 = 118 (50.2)
1/2 = 29 (33.7) 2/2 = 8 (7.7)
2/2 = 7 (8.1)
TLE-HS− TLE-HS− versus
n = 23 controls = NS
1/1 = 15 (65.2)
1/2 = 7 (30.4)
2/2 = 1 (4.4)
TLE-FS− Caucasian TLE-FS− TLE-FS+ versus
n = 54 controls =0.0078
1/1 = 33 (61.1)
1/2 = 16 (29.6)
2/2 = 5 (9.3)
IL-1RA 86 bp tandem repeat → intron 2 Kanemoto et al. 2000 [74] TLE-HS+/− Japanese TLE-HS+ n = 112 TLE-HS+ versus
Allele 4 = 5 repeats Initial study n = 50 1/1 = 102 (91.9) controls = NS
Allele 1 = 4 repeats 1/1 = 46 (92.0) 1/2 = 6 (5.4)
Allele 2 = 2 repeats 1/2 = 3 (6.0) 1/3 = 1 (0.9)
Allele 3 = 3 repeats 1/3 = 1 (2.0) 1/4 = 2 (1.8)
Allele 5 = 6 repeats (rs2234663) 1/4 = 0 (0.0)
TLE-HS− TLE-HS− versus
n = 53 controls = NS
1/1 = 52 (98.1)
1/2 = 1 (1.9)
1/3 = 0 (0.0)
1/4 = 0 (0.0)
Salzmann et al. 2008 [67] TLE-HS+/− Caucasian TLE-HS+ n = 242 TLE-HS+ versus
n = 86 1/1 = 128 (52.9) controls = NS
1/1 = 43 (50.0) 1/2 = 90 (37.2)
1/2 = 36 (41.9) 1/4 = 5 (2.1)
1/4 = 1 (1.2) 1/5 = 0 (0.0)
1/5 = 0 (0.0) 2/2 = 16 (6.6)
2/2 = 6 (7.0) 2/4 = 3 (1.2)
2/4 = 0 (0.0)
TLE-HS− TLE-HS− versus
n = 23 controls = 0.001
1/1 = 5 (21.7)
1/2 = 13 (56.5)
1/4 = 0 (0.0)
1/5 = 1 (4.3)
2/2 = 4 (17.4)
2/4 = 0 (0.0)
IL-1β c.−511C>T → promoter Kanemoto et al. 2000 [74] TLE-HS+/− Japanese TLE-HS+ n = 112 TLE-HS+ versus
Allele 1 = C Initial study n = 50 1/1 = 31 (27.7) controls =0.0085
Allele 2 = T (rs1799916) 1/1 = 9 (18.0) 1/2 = 58 (51.8)
1/2 = 19 (38.0) 2/2 = 23 (20.5)
2/2 = 22 (44.0)
TLE-HS− TLE-HS− versus
n = 53 controls = NS
1/1 = 13 (24.5)
1/2 = 30 (56.6)
2/2 = 10 (18.9)
Kanemoto et al. 2003 [76] TLE-HS+/− Japanese TLE-HS+ n = 163 TLE-HS+ versus
16 TLE-HS+ and 11 TLE-HS− n = 66 1/1 = 44 (27.0) controls =0.0028
were added to 1/1 = 12(18.2) 1/2 = 82 (50.3)
initial study [74] 1/2 = 24 (36.4) 2/2 = 37 (22.7)
2/2 = 30 (45.5)
TLE-HS− TLE-HS− versus
n = 64 controls = NS
1/1 = 16 (25.0)
1/2 = 36 (56.3)
2/2 = 12 (18.7)
Heils et al. 2000 [77] TLE-HS+ Caucasian n = 86 n = 133 NS
1/1 = 33 (38.0) 1/1 = 57 (42.0)
1/2 = 42 (49.0) 1/2 = 60 (45.0)
2/2 = 11 (13.0) 2/2 = 16 (12.0)
Buono et al. 2001 [78] TLE-HS+ Caucasian n = 61 n = 119 NS
1/1 = 31 (50.8) 1/1 = 44 (37.0)
1/2 = 24 (39.3) 1/2 = 68 (57.1)
2/2 = 6 (9.8) 2/2 = 7 (5.9)
Jin et al. 2003 [79] TLE-HS+/− Chinese TLE-HS+ n = 115 TLE-HS+ versus
n = 67 1/1 = 26 (23.0) controls = NS
1/1 = 16 (24.0) 1/2 = 62 (54.0)
1/2 = 32 (48.0) 2/2 = 27 (23.0)
2/2 = 19 (28.0)
TLE-HS− TLE-HS− versus
n = 45 controls = NS
1/1 = 12 (27.0)
1/2 = 24 (53.0)
2/2 = 9 (20.0)
Cavalleri et al. 2005 [5] TLE-HS+ Caucasian n = 141 n = 384 NS
1/1 = 59 (45.0) 1/1 = 161 (44.0)
1/2 = 57 (44.0) 1/2 = 162 (45.0)
2/2 = 15 (11.0) 2/2 = 41 (11.0)
Ozkara et al. 2006 [75] TLE-HS+ Turkish n = 47 n = 99 NS
1/1 = 16 (34.0) 1/1 = 41 (41.4)
1/2 = 21 (44.6) 1/2 = 41 (41.4)
2/2 = 10 (21.2) 2/2 = 17 (17.1)
Ozkara et al. 2006 [75] TLE-FS+/− Turkish TLE-FS + TLE-FS+ versus
Initial study n = 28 TLE-FS− = NS
1/1 = 9 (32.1)
1/2 = 13 (46.4)
2/2 = 6 (21.4)
TLE-FS−
n = 19
1/1 = 5 (26.3)
1/2 = 9 (47.3)
2/2 = 5 (26.3)
Salzmann et al. 2008 [67] TLE-HS+/− Caucasian TLE-HS+ n = 227 TLE-HS+ versus
n = 86 1/1 = 99 (43.6) controls = NS
1/1 = 35 (40.7) 1/2 = 108 (47.6)
1/2 = 45 (52.3) 2/2 = 20 (8.8)
2/2 = 6 (7.0)
TLE-HS− TLE-HS− versus controls = NS
n = 23
1/1 = 12 (52.2)
1/2 = 9 (39.1)
2/2 = 2 (8.7)
IL-1β IL-1β + 3953 → exon 5
 Kanemoto et al. 2000 [74] TLE-HS+/− Japanese TLE-HS+ n = 112 TLE-HS+ versus
Initial study n = 50 1/1 = 105 (93.8) controls = NS
Allele 1 and allele 2 1/1 = 45 (90.0) 1/2 = 7 (6.3)
(CM040228) 1/2 = 5 (10.0) 2/2 = 0 (0.0)
2/2 = 0 (0.0)
TLE-HS− TLE-HS− versus
n = 53 controls = NS
1/1 = 49 (92.5)
1/2 = 3 (5.7)
2/2 = 1 (1.9)
Ozkara et al. 2006 [75] TLE-HS+ Turkish n = 47 n = 99 NS
1/1= 28 (59.5) 1/1= 63 (63.6)
1/2 = 18 (38.2) 1/2 = 30 (30.3)
2/2 = 1 (2.1) 2/2 = 17 (17.1)
Ozkara et al. 2006 [75] TLE-FS+/− Turkish TLE-FS+ TLE-FS+ versus
Initial study n = 28 TLE-FS− = NS
1/1 = 19 (67.8)
1/2 = 9 (32.1)
2/2 = 0 (0.0)
TLE-FS−
n = 19
1/1 = 12 (63.1)
1/2 = 7 (36.8)
2/2 = 0 (0.0)
Salzmann et al. 2008 [67] TLE-HS+/− Caucasian TLE-HS+ n = 234 TLE-HS+ versus
n = 86 1/1 = 118 (50.4) controls = NS
1/1 = 45 (52.3) 1/2 = 101 (43.2)
1/2 = 34 (39.5) 2/2 = 15 (6.4)
2/2 = 7 (8.2)
TLE-HS− TLE-HS− versus
n = 23 controls = NS
1/1 = 14 (60.9)
1/2 = 8 (34.8)
2/2 = 1 (4.3)
PRNP p.Asn171Ser (CM971239) Walz et al. 2003 [80] Refractory Brazilian Seizure-free Seizure-free
Initial study TLE-HS+ n = 85 versus Seizure =
Asn/Asn = 70 (82.4) 0.005
Asn/Ser = 15 (17.6)
Seizure
n = 13
Asn/Asn = 6 (46.2)
Asn/Ser = 7 (53.8)
Cavalleri et al. 2005 [5] Refractory Caucasian n = 121 n = 384 NS
TLE-HS+ Asn/Asn = 109 (100) Asn/Asn = 360 (99.8)
Asn/Ser = 0 (0.0) Asn/Ser = 1 (0.2)
Ser/Ser = 0 (0.0) Ser/Ser = 0 (0.0)
PRNP p.Met129Val (CM890104) Labate et al. 2007 [81] Women, Caucasian n = 162 n = 141 0.021
Initial study nonlesional TLE Met/Met = 64 (39.5) Met/Met = 77 (54.6)
Met/Val = 77 (47.5) Met/Val = 54 (38.3)
Val/Val = 21 (13.0) Val/Val = 10 (7.1)
Wang et al. 2008 [82] Women, Chinese n = 150 n = 312 NS
nonlesional TLE Met/Met = 146 (97.33) Met/Met = 302 (96.79)
Met/Val = 4 (2.67) Met/Val = 10 (3.31)
Val/Val = 0 (0.0) Val/Val = 0 (0.0)
5-HTT 5-HTTLPR ins/del → 5′UTR Manna et al. 2007 [83] Nonlesional TLE Caucasian n = 276 n = 309 NS
S-allele = short variant Initial study L/L = 77 (21.1) L/L = 90 (29.1)
L-allele = long variant L/S = 146 (60.6) L/S = 142 (46.0)
(rs12720056) S/S = 53 (18.3) S/S = 77 (24.9)
Stefulj et al. 2010 [84] TLE Caucasian n = 101 n = 170 NS
L/L = 42 (41.6) L/L = 60 (35.3)
L/S = 45 (44.6) L/S = 93 (54.7)
S/S = 14 (13.9) S/S = 17 (10.0)
Schenkel et al. 2011 [85] TLE Brazilian n = 175 n = 155 NS
L/L = 48 (27.4) L/L = 54 (34.8)
L/S = 91 (52.0) L/S = 64 (41.3)
S/S = 36 (20.6) S/S = 37 (23.9)
5-HTT 17 bp tandem repeat → intron 2 Manna et al. 2007 [83] Nonlesional TLE Caucasian n = 276 n = 309 0.0145
9, 10 and 12 repeats Initial study 12/12 = 126 (48.6) 12/12 = 115 (37.2)
(rs71360731) 12/10 = 112 (46.2) 12/10 = 136 (44.0)
10/10 = 38 (5.2) 10/10 = 58 (18.8)
Kauffman et al. 2009 [86] Response to Argentinean Nonresponsive Nonresponsive versus
treatment n = 74 responsive =0.006
TLE-HS+ 12/12 = 40 (54.0)
12/10 = 23 (31.0)
10/10 = 10 (13.5)
12/9 = 1 (1.5)
Responsive
n = 31
12/12 = 7 (22.6)
12/10 = 21 (67.7)
10/10 = 3 (9.7)
12/9 = 0 (0.0)
Stefulj et al. 2010 [84] TLE Caucasian n = 101 n = 170 NS
12/12 = 30 (30.9) 12/12 = 64 (39.5)
12/10 = 46 (47.4) 12/10 = 74 (45.7)
10/10 = 21 (21.6) 10/10 = 24 (14.8)
Schenkel et al. 2011 [85] TLE Brazilian n = 175 n = 155 NS
12/12 = 62 (35.4) 12/12 = 67 (43.2)
12/10 = 81 (46.3) 12/10 = 67 (43.2)
10/10 = 32 (18.3) 10/10 = 21 (13.5)
5-HT1B c.861C>G → synonymous Stefulj et al. 2010 [84] TLE Caucasian n = 101 n = 170 0.0642
(rs6296) C/C = 2 (2.0) C/C = 14 (8.2)
G/C = 35 (34.7) G/C = 65 (38.2)
G/G = 64 (63.4) G/G = 91 (53.5)
CALHM1 A>G → 3′UTR Lv et al. 2011 [87]
TLE Chinese n = 551 n = 399 0.004
(rs11191692) Initial study A/A = 50 (9.1) A/A = 30 (7.5)
A/G = 257 (46.6) A/G = 149 (37.3)
G/G = 244 (44.3) G/G = 220 (55.1)
Lv et al. 2011 [87] TLE Chinese n = 360 n = 300 0.006
Replication study A/A = 34 (9.4) A/A = 20 (6.8)
A/G = 168 (46.7) A/G = 111 (37.0)
G/G = 158 (43.9) G/G = 169 (56.2)

n: number of individuals; TLE: temporal lobe epilepsy; NS: nonsignificant; TLE-FS+/−: temporal lobe epilepsy with/without personal history of febrile seizures; TLE-HS+/−: temporal lobe epilepsy with/without hippocampal sclerosis; ε4+/−: ε4 present or not; significant P-values are in italic.