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| # | Identified Genes | Population tested | Published by |
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| 1 | Genes potentially associated with IS:
2p15-13, 6q13, 15q12 | Analysis of the Human Cytogenetics Database |
Brewer et al., 1998 [149] |
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| 2 | Genes associated with IS:
6p, distal 10q, 18q | A genome-wide search in one large family (7 affected members). | Wise et al., 2000 [151] |
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| 3 | Genes associated with IS:
19p13.3 (D19S216; D19S894; D19S1034)
D2S160-D2S347-D2S112
No linkage was found with markers on the X chromosome | Seven families with AIS consisting of 25 affected members were studied. | Chan et al., 2002 [165] |
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| 4 | Genes associated with IS:
Xq23 (GATA172D05) in 15% of studied families stratified for genetic heterogeneity | 202 families with at least 2 individuals with IS (total of 1198 individuals were studied). | Justice et al., 2003 [164] |
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| 5 | Genes associated with IS:
Matrilin-1 (MATN1) gene polymorphism, 1p35 | Population of 81 trios (daughter/son affected by IS and both parents). | Montanaro et al., 2006 [155] |
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| 6 | Genes associated with IS:
Matrilin-1 (MATN1),
rs1149048, 1p35
Association with AIS susceptability | 222 cases (90% female)
750 controls (88% female)
adolescents
Chinese population |
Chen et al., 2009 [156] |
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| 7 | Genes associated with IS:
Matrilin-1 (MATN1),
rs 1065755, 1p35
Association with curve type | 166 cases (80% female)
126 controls (100% female)
Adolescents
Korean population | Bae et al., 2012 [158] |
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| 8 | Genes associated with IS:
Matrilin-1 (MATN1)
Association with curve severity and decrease of plasma mtrilin-1 level | 25 cases (AIS)
25 controls
Chinese population | Wang et al. 2009 [157] |
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| 9 | Genes associated with IS:
G-protein-coupled receptor 126 (GPR126), rs6570507,
6q24.1 | 1819 cases (AIS)
25934 controls
Japanese population,
743 cases (AIS)
1209 controls
Chinese Han population,
447 cases (AIS)
437 controls
European ancestry population | Kou et al., 2013 [162] |
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| 10 | Genes associated with IS:
CHD7 gene polymorphism,
8q12 | Genome-wide scan follow-up study of 52 families with history of IS (130 affected individuals). | Gao et al., 2007 [154] |
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| 11 | Genes associated with IS:
Melatonin receptor 1B gene (MTNR1B),
rs4753426,
11q21-q22 | Initial screening (472 cases and 304 controls), and separate replication test (342 cases and 347 controls) |
Qui et al., 2007 [71] |
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| 12 | Genes associated with IS:
Estrogen receptor α gene
XbaI, 6q25.1 (association with curve severity) | 304 girls with IS were tested. | Inoue et al., 2002 [167] |
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| 13 | Genes associated with IS:
Estrogen receptor (ER) gene
XbaI, 6q25.1 ( may be associated with a risk of AIS) | 202 cases
174 controls | Wu et al., 2006 [168] |
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| 14 | Genes associated with IS:
21 candidate genes on chromosomes 6 and 10 | 5 families with triple IS spine deformities | Marosy et al., 2010 [180] |
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| 15 | Genes associated with IS:
Estrogen receptor (ER) gene,
6q25.1 | 147 cases (53% AIS, 47% unaffected sisters)
104 controls (no AIS)
Age 13–19 years | Esposito et al., 2009 [125] |
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| 16 | Genes associated with IS:
Calmodulin 1 (CALM1) gene
Melatonin receptor 1B (MTNR1B) gene, rs1562444, 11q14.3 | 30 AIS cases (6 male, 24 female)
30 controls (age- and gender-matched)
Chinese population |
Zhuang et al., 2007 [201] |
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| 17 | Genes associated with IS:
Estrogen receptor 1 (ESR1) gene rs2234693, 6q25.1; | 67 cases (double curve patients)
100 nonscoliotic controls | Zhao et al., 2008 [170] |
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| 18 | Calmodulin 1 (CALM1) gene:
rs12885713, rs5871,
14q24-q31 | 67 cases (double curve patients)
100 nonscoliotic controls |
Zhao et al., 2008 [170] |
100 AIS cases
100 Controls |
Zhao et al., 2009 [171] |
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| 19 | Genes associated with IS:
Estrogen receptor gene −458T>C site polymorphisms of 14q23.2.
Association with AIS in females and with curve severity. | 218 cases (176 female; 42 male)
with AIS
140 healthy controls. | Zhang et al., 2009 [172] |
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| 20 | Genes associated with IS:
G-protein coupled estrogen receptor 1 (GPER1), rs3808351, rs10269151, 426655s3,
7p22.3
Association with curve severity | 389 cases (336 female; 53 male)
338 controls (289 female; 49 male)
Age: 10–19 years
Chinese Han population | Peng et al., 2012 [174] |
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| 21 | Genes associated with IS:
D17S947–D17S798
17p11 | A three-generation family of Italian ancestry that included 11 members affected by IS
Genome scanning was performed with 358 microsatellite markers. |
Baghernajad Salehi et al., 2002 [181] |
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| 22 | Genes associated with IS:
The osteoprotegerin gene 1181 G→C polymorphism was associated with the bone mineral density of the lumbar spine in females with AIS, 8q24. | 198 females with AIS were tested. | Eun et al., 2009 [182] |
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| 23 | Genes associated with IS:
The tryptophan hydroxylase (TPH1) rs10488682, 11p15.1.
Association with susceptibility to AIS | 103 AIS patients (Cobb angle > 30°), and 107 nonscoliotic controls. All subjects were Han Chinese 10–20 years of age. | Wang et al., 2008 [183] |
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| 24 | Genes associated with IS:
The tryptophan hydroxylase (TPH1),
rs10488682, 11p15.1.
The estrogen receptor (ER)
rs9340799, 6q25.1
Association with cure progression and success of brace treatment | 312 AIS cases (90 progressive, and 222 no progression)
Brace treatment
Chinese population | Xu et al., 2011 [30] |
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| 25 | Gene associated with IS:
5-hydroxytryptamine (serotonin) receptor A (HTR1A), rs6294, 5q12.3 | 103 AIS cases
108 controls (age- and gender-matched)
Chinese population | Wang et al., 2010 [199] |
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| 26 | Genes associated with IS:
Fibrillin 3 (FBN3), rs35579498, rs7257948
19p13
Association with curve occurrence and progression in AIS | 273 AIS patients, aged 10–18 years
287 control-healthy age-matched female adolescents. | Cao et al., 2008 [166] |
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| 27 | Gene associated with IS:
Metalloproteinase-3 (MMP3) promoter gene
11q22.3 | 53 patients with AIS and 206 nonscoliotic controls. Age was not specified. | Aulisa et al., 2007 [184] |
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| 28 | Gene associated with IS:
Metalloproteinase-9 (MMP9), rs2250889, 20q13.12 | 190 AIS cases
190 controls
Female
Chinese Han population | Huang et al., 2011 [198] |
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| 29 | Gene associated with IS:
Interleukin-6 ( IL6) promoter gene
7p21-p15 | 53 patients with AIS and 206 nonscoliotic controls. Age was not specified. | Aulisa et al., 2007 [184] |
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| 30 | Gene associated with IS:
Interleukin-6 ( IL6)
Association with bone mineral density in AIS | 198 AIS cases (female)
120 controls (female)
Age: 11–14 years
Korean population | Lee et al., 2010 [186] |
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| 31 | Gene associated with IS:
Inrleukin-17 receptor C (IL-17RC) gene,
rs708567, 3p.25.3. | 529 cases (AIS, female 100%)
512 controls (female 100%)
Age: 11 to 18 years
Chinese Han population | Zhou et al., 2012 [187] |
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| 32 | Gene associated with IS:
Neural adhesion molecules
CHL1, rs1400180, 3p26.3 | 419 AIS families | Sharma et al., 2011 [195] |
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| 33 | Gene associated with IS:
Ladybird homeobox 1 (LBX1)
rs11190870, 10q24.31 | 1376 cases (AIS, female 100%)
11297 controls (female 100%)
Japanese population; |
Takahashi et al., 2011 [192] |
300 cases (AIS, Cobb > 30 degree)
780 controls
Southern Chinese population; | Fan et al., 2012 [194] |
513 cases (AIS)
440 controls
Chinese Han population | Gao et al., 2013 [193] |
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| 34 | Gene associated with IS:
Vitamin D3 receptor gene polymorphism (VDR Bsml), 12q13-14.
Associated with low bone mass and low bone mineral density at the lumbar spine in girls with AIS | 198 Korean girls 11–13 years of age with AIS, and 120 age-matched healthy girls (control). | Suh et al., 2010 [189] |
| 164 females 9–20 years of age with AIS, and 122 age-matched healthy girls (control) | Xia et al., 2007 [190] |
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| 35 | Gene associated with IS:
Histone methyltransferase (DOT1L),
rs12459350, 19p13.3; | 500 cases (AIS)
497 controls | Mao et al., 2013 [196] |
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| 36 | Gene associated with IS:
Chromosome 17 open reading frame 67
(C17orf67), rs4794665, 17q22. | 500 cases (AIS)
497 controls | Mao et al., 2013 [196] |
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| 37 | Gene associated with IS:
Neurotrophin 3 (NTF3) gene,
rs11063714, 12p13
Association with curve severity | 362 cases
377 controls
Chinese Han population |
Qiu et al., 2013 [175] |
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| 38 | Gene associated with IS:
SH3GL1 protein-coding gene,
19p13.3 | 214 IS cases (68 male, 146 female) | Yang et al., 2012 [197] |
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| 39 | Gene associated with IS:
Lysosomal protein transmembrane 4 beta (LAPTM4B), rs2449539, 8q22.1
Insulin-like growth factor 1 (IFG1), rs5742612, 12q23.2
Association with susceptibility to AIS and curve severity | 68 AIS cases
35 controls (age- and sex-matched)
Korean population | Moon et al., 2013 [119] |
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