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Table 2 Primary author, year of publication, affected gene, frequency in cases and statistical association of the included studies

From: Exploring the association between specific genes and the onset of idiopathic scoliosis: a systematic review

Author, year Affected gene Sample size Frequency in cases Statistical assocation
   Cases Controls Cases Controls P value Odds ratio
Alden, 2006 Chromosome 19p13:
D19S591
D19S1034
D19S922
D19S714
703 495 Not Reported Not Reported 0.0233*
0.0366*
0.0018(singlepoint)*
0.042 (multipoint)*
0.035*
 
Borysiak, 2020 Gene: CHD7
rs1017861
G:
A:
GG:
GA:
AA:
rs4738824
G:
A:
GG:
GA:
AA:
rs4738813
T:
C:
TT:
CT:
CC:
211 83 (%)
rs1017861
87.7
12.3
77.2
28
1.9
rs4738824
81.8
18.3
65.9
31.7
2.4
rs4738813
68.7
31.2
48.2
41
10.8
(%)
rs1017861
74.6
25.4
55.4
38.6
6.0
rs4738824
79.5
20.5
63.9
32.1
4.8
rs4738813
69.3
30.7
49.4
39.8
10.8
rs1017861
Alleles: 0.0001
Dominant Model: 0.06*
Recessive Model: 0.002*
rs4738824
Alleles: 0.53
Dominant Model: 0.47
Recessive Model: 0.84
rs4738813
Alleles: 0.97
Dominant Model: 0.99
Recessive Model: 0.97
2.4 (1.5–3.8)
3.3 (0.9–12.7)
0.4 (0.2–0.6)
0.84 (0.6–1.2)
2.1 (0.6–7.9)
0.9 (0.5–1.6)
0.97 (0.66–1.44)
0.99 (0.44–2.25)
0.96 (0.58–1.59)
Buchan, July 2014 CNV: 16p11.2
1q21.1 duplication (proximal)
2q13 duplication
15q11.2 deletion
15q11.2 duplication
16p11.2 duplication
143 1079 (n)
3
1
1
1
1
(n)
1
7
4
5
2
0.0057*
0.6316
0.4639
0.5269
0.3118
 
Buchan, May 2014 FBN1
FBN2
FBN1 or FBN2
323 493 (n)
13/311
11/316
24/304
(n)
5/489
5/427
10/425
0.0041*
0.0307*
0.000546*
4.2
3.0
3.5
Kotwicki, 2014 Gene ESR2
C/T rs1256120
A/G rs4986938
A/G rs1256049
248 243 Not Reported Not Reported 0.1716 (0.2646–1.886)
(0.6234–1.276)
1.557
Kou, 2019 LOC101928978: rs141903557
MTMR11: rs11205303
ARF1: rs12029076
TBX1: rs1978060
LINC02378/MIR3974: rs2467146
CSMD1: rs11787412
KIF24: rs188915802
BCKDHB/FAM46A: rs658839
CREB5: rs160335
NT5DC1: rs482012
LOC101927021/UNCX: rs11341092
PLXNA2: rs17011903
AGMO/MEOX2: rs397948882
FTO: rs12149832
LINC01514/LBX1: rs11190870
ADGRG6: rs9389985
BNC2: rs7028900
ABO: rs144131194
PAX1/LINC01432: rs6047716
CDH13: rs2194285
5327 73,884 Risk Allele Frequency
0.060
0.24
0.81
0.49
0.70
0.42
0.019
0.54
0.54
0.74
0.33
0.11
0.11
0.82
0.66
0.48
0.46
0.58
0.51
0.13
Risk Allele Frequency
0.047
0.21
0.78
0.47
0.67
0.38
0.013
0.51
0.51
0.72
0.31
0.10
0.10
0.79
0.56
0.43
0.42
0.55
0.47
0.11
9.78 × 10 − 11*
1.62 × 10 − 10*
2.17 × 10 − 10*
3.26 × 10 − 10*
5.96 × 10 − 10*
1.32 × 10 − 9*
1.94 × 10 − 9*
3.15 × 10 − 9*
9.10 × 10 − 9*
2.30 × 10 − 8*
2.92 × 10 − 8*
3.56 × 10 − 8*
3.66 × 10 − 8*
4.40 × 10 − 8*
2.01 × 10 − 82*
3.51 × 10 − 20*
2.19 × 10 − 17*
1.35 × 10 − 11*
1.45 × 10 − 11*
8.69 × 10 − 9*
1.33
1.17
1.18
1.16
1.15
1.14
1.66
1.14
1.13
1.14
1.14
1.20
1.20
1.16
1.52
1.21
1.20
1.15
1.15
1.19
Liu, 2017 Gene: LBX1
rs11190870
allele: C
allele: T
rs1322331
allele: T
allele: G
rs4917933
allele: A
allele: G
rs625039
allele: A
allele: G
rs11190872
allele: T
allele: C
180 182 (n)
150
210
182
178
20
340
124
236
13
347
(n)
195
169
138
226
26
336
155
209
22
342
1.34 × 10–3*
6.15 × 10–4*
0.371
2.45 × 10–2*
0.127
 
Moon, 2013 CHL1
rs10510181
DSCAM
rs2222973
LAPTM4B
rs2449539
FOXB1
rs1437480
CBLN4
rs448013
RRAGC
rs10493083
BRIP1
rs16945692
MATN1
rs1149048
MTNR1B
rs4753426
IGF1
rs5742612
35 68 Not Reported Not Reported (Allele)
0.965
0.207
0.002*
0.875
0.114
0.363
0.286
0.750
0.152
0.059
 
Nikolova, 2016 Gene: IL-6
rs1800795
105 210 (%)
(G = Risk Allele)
GG: 51.4
CG: 38.1
CC: 10.5
G: 70.5%
(%)
GG: 30.0
CG: 44.8
CC: 25.2
G: 52.4%
 < 0.0001*  
Ogura, 2013 rs7613792
rs16902899
rs2700910
rs10787096
rs1558729
rs17635546
2117   Not Reported Not Reported 0.66
1
1
0.701
1
1
0.84 (0.36–1.94)
0.99 (0.23–4.15
N/A
1.39 (0.31–6.24)
N/A
N/A
Sadler, 2019 Gene: SH2B1
1q21.1
2q13
15q11.2
15q13.3
16p13.11
Distal 16p11.2
Proximal16p11.2
HNPP/CMT1A
17q12
DiGeorge/VCFS
1197 1664 (n)
Dup: 1
Del: 3
Del: 2, Dup: 0
Dup: 1
Del: 1, Dup: 1
Del: 0, Dup: 8
Del: 1
Del: 1
Del: 1, Dup: 1
Del: 2
(n)
Dup: 0
Del: 0
Del: 2, Dup: 2
Dup: 0
Del: 2, Dup: 1
Del: 1, Dup: 1
Del: 0
Del: 1
Del: 0, Dup: 1
Del: 0
Dup: 0.42
Del: 0.07
Del:0.56, Dup:1
Dup: 0.42
Del:0.80, Dup:0.66
Del: 1, Dup: 0.005*
Del: 0.42
Del: 0.66
Del: 0.42, Dup: 0.66
Del: 0.18
 
Sharma, 2011 Gene: CHL1
rs1400180
rs9754850
rs9754552
rs10510181
375 444 $
0.43
0.51
0.51
0.38
$
0.41
0.44
0.44
0.30
0.56
0.044*
0.049*
0.021*
1.09
1.35
1.34
1.42
Takahashi, 2018 Gene: LBX1
rs11190870
2191   (n)
(T = Risk Allele)
TT: 818
TC: 865
CC: 177
Not Reported 0.13  
Takeda, 2017 Gene: TBX6
16p11.2del
c.699G > A
c.156delG
c.935_936insGA
c.333G > T
94   $$$
(n)
5
1
1
1
1
Not Reported   
Wang, 2008 Gene: TPH1
Allele A of rs10488682
A/Ahomozgote genotype
103 108 $$
(%)
19.9
39.8
(%)
7.9
15.7
0.0003*
0.001*
2.909
Wang, 2020 Missense variant in ESR1 (c.868A > G)
Missense variant in ESR2 (c.236 T > C)
113   Not Reported Not Reported 0.026*
0.014*
 
Wu, 2006 PvuII, XbaI polymorphisms of Estrogen Receptor Gene
PPXX
PPXx
PPxx
PpXX
PpXx
Ppxx
ppXX
ppXx
ppxx
174 202 (n), (%)
19, 9.40
8, 3.96
12, 5.94
21, 10.40
43, 21.29
28, 13.86
14, 6.93
25, 12.38
32, 15.84
(n), (%)
13, 7.47
13, 7.47
14, 8.05
8, 4.60
36, 20.69
26, 14.94
5, 2.87
17, 9.77
42, 24.14
0.53
0.139
0.422
0.036*
0.887
0.766
0.073
0.424
0.044*
1.29
0.51
0.72
2.41
1.04
0.92
2.52
1.30
0.59
Xu, 2015 allele G of rs12618119:
allele A of rs9945359:
allele T of rs4661748:
allele C of rs4782809:
990 1188 $$
(%)
46.5
22.6
15.6
42.4
(%)
40
18.4
19.4
47.4
 < 0.001* 1.29
1.29
0.77
0.82
Xu, 2020 Gene: SLC39A8
rs11097773
192 192 (G = Risk Allele)
(n)
GG: 2
AG: 26
AA: 164
(n)
GG: 6
AG: 45
AA: 141
0.01* 0.486
Yilmaz, 2012 MCM6 (6p21)
MATN-1 (1p35)
VFR BsmI (12q13.1)
54 53 (n), (%)
CC: 47, 89
CT: 6, 11
TT: 0, 0
AA: 20, 37.7
AG: 23, 43.3
GG: 10 (19%)
GG: 19, 36
AG: 26, 49
AA: 8, 15
(n), (%)
CC: 48, 88
CT: 5, 9.2
TT: 1, 1.8%
AA: 16, 29.6
AG: 28, 51.8
GG: 10, 18.5
GG: 22, 40.74
AG: 26, 48.15
AA: 6, 11.11
0.97
0.66
0.59
1.16 (0.3–4.0)
1.17 (0.6–2.1)
0.8 ( 0.5–1.5)
Zhao, 2009 Gene: CALM1
rs12885713
rs5871
Gene: ER1
rs2234693
67 100 (n), (%)
C allele—T allele
96 (71.6)—38 (28.4)
59 (44)—75 (56)
41 (30.6)—93 (69.4)
(n), (%)
C allele—T allele
163 (81.5)—37 (18.5)
109 (54.5)—91 (45.5)
88 (44)—112 (56)
0.034*
0.061
0.014*
 
Zhao, 2020 Gene: TBX6
16p11.2del
447   (n)
41
Not Reported   
Zhou, 2012 Gene: IL-17RC
allele G of rs708567
GG genotype
529 512 $$
(%)
90.17
95.1
(%)
85.55
92.8
0.028*
0.023*
 
Zhu, 2014 Gene: SOCS3
rs4969168
AA
AG
GG
A
G
398 367 (n)
56
215
127
327
469
(n)
49
208
110
306
428
AA: 0.587
A: 0.835
 
  1. $Case: Control risk allele frequencies; $$percentage of patients and controls with variant gene/deletion; $$$number of patients with variant gene/deletion; * p < 0–05