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

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