Table 1 Summary of SNPs associated with corneal curvature in CREAM populations (P < 5.0 × 10−8), with replication in UK Biobank data.

From: Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

 

CREAM-eur (n =  29,580)

CREAM-asn (n =  14,462)

CREAM (n = 44,042)

UK Biobank (n=88,218)

All combined

SNP

CHR

POS

GENE(S)

A1/A2

EAF

β

P

EAF

β

P

β

P

Het-I2

het-P

Freq

β

P

Het-I2

P

rs3737611

1

11186897

MTOR

A/G

0.98

−0.040

2.08E-05

0.83

−0.041

6.73E-21

−0.041

2.50E-23

0.00

0.523

0.98

−0.041

1.30E-23

0.00

1.36E-46

rs4074961

1

38092723

RSPO1

T/C

0.43

0.024

5.83E-22

0.46

0.019

4.10E-10

0.022

1.06E-29

16.20

0.206

0.44

0.022

1.40E-73

0.00

6.51E-100

rs60078183a

1

47857307

CMPK1/STIL

A/G

0.00

NA

NA

0.21

−0.037

3.82E-15

−0.037

3.59E-14

0.00

0.694

0.00

−0.034

4.80E-01

0.00

4.47E-16

rs945170

1

62867483

USP1

T/G

0.27

−0.018

5.11E-12

0.33

−0.007

2.91E-02

−0.014

1.61E-11

27.74

0.067

0.26

−0.012

1.10E-19

0.00

2.64E-30

rs1548942

2

217619036

IGFBP5/TNP1

T/C

0.15

0.016

5.62E-07

0.19

0.016

1.05E-04

0.016

4.23E-10

0.00

0.757

0.15

0.021

6.40E-37

3.76

5.14E-50

rs2245601

2

233390937

CHRND/RPSS56

A/G

0.49

−0.014

5.27E-09

0.38

−0.013

2.95E-04

−0.014

1.10E-11

0.00

0.641

0.52

−0.015

5.40E-38

0.00

1.29E-48

rs2630445a

3

13554886

HDAC11/FBLN1

T/G

0.10

0.030

1.17E-15

0.00

NA

NA

0.030

1.17E-15

0.00

0.578

0.10

0.031

8.80E-55

0.00

4.92E-67

rs485554

3

172137343

FNDC3B/GHSR

C/G

0.31

−0.015

1.78E-08

0.49

−0.009

5.08E-03

−0.012

1.01E-09

25.11

0.094

0.32

−0.012

1.60E-19

0.00

2.12E-27

rs10663094

3

181363464

SOX2

ACT/A

0.34

0.011

1.48E-05

0.41

0.013

8.88E-05

0.012

9.82E-09

1.94

0.435

0.35

0.012

9.70E-23

0.00

1.27E-30

rs16896276

4

18015156

LCORL

A/T

0.27

0.014

1.28E-07

0.38

0.014

2.02E-04

0.014

1.74E-10

0.00

0.951

0.26

0.013

5.70E-21

0.00

1.19E-31

rs1800813

4

55094467

PDGFRA

A/G

0.21

−0.022

9.90E-15

0.23

−0.024

2.19E-10

−0.023

6.44E-23

36.64

0.019

0.22

−0.020

5.80E-45

0.41

1.59E-73

rs7657200

4

73473151

ADAMTS3

A/G

0.38

0.016

1.48E-09

0.37

0.008

2.20E-02

0.013

6.50E-10

0.00

0.873

0.39

0.014

3.70E-29

0.00

2.23E-38

rs6831679

4

128113424

RP11-125O18.1

A/G

0.27

0.013

2.80E-07

0.40

0.013

4.42E-05

0.013

9.78E-11

0.00

0.808

0.28

0.008

3.50E-10

3.57

1.14E-18

rs11740254

5

64319640

CWC27/ADAMTS6

T/C

0.40

0.014

2.48E-07

0.27

0.010

1.15E-02

0.013

1.55E-08

0.00

0.827

0.46

0.011

6.70E-21

0.00

4.96E-30

rs13180294

5

79360175

THBS4

A/G

0.08

−0.028

1.17E-10

0.05

−0.018

6.68E-02

−0.027

3.37E-11

0.00

0.479

0.10

−0.015

7.50E-14

6.85

2.46E-22

rs7708378a

5

129088784

ADAMTS19/CHSY3

T/G

0.07

0.028

2.49E-09

0.00

NA

NA

0.028

2.49E-09

0.00

0.474

0.08

0.028

2.80E-34

0.00

5.51E-45

rs67612840

6

10028826

OFCC1

A/T

0.28

−0.012

3.34E-06

0.26

−0.015

2.42E-05

−0.013

8.26E-10

4.24

0.398

0.27

−0.014

6.40E-26

0.00

4.11E-35

rs9366426

6

22064639

CASC15

T/C

0.44

0.014

2.11E-08

0.78

0.012

4.00E-03

0.013

4.42E-10

26.55

0.081

0.43

0.013

9.30E-28

0.00

5.39E-37

rs961755

6

113443139

U6

T/G

0.20

0.011

1.91E-04

0.33

0.014

1.32E-05

0.013

2.49E-08

0.00

0.844

0.18

0.014

2.30E-21

0.00

1.49E-30

rs4620141

6

138869568

NHSL1

T/C

0.36

−0.013

2.90E-07

0.58

−0.015

3.35E-06

−0.014

1.12E-11

19.17

0.164

0.36

−0.008

5.10E-11

5.93

1.74E-20

rs12702376

7

47775053

HUS1

C/G

0.84

−0.028

9.25E-18

0.86

−0.024

9.69E-03

−0.028

3.52E-19

12.45

0.286

0.85

−0.029

2.40E-67

0.00

2.77E-86

rs7004112

8

78941331

RP11-91P17.1

T/G

0.40

−0.010

3.08E-05

0.50

−0.017

1.82E-08

−0.013

4.20E-11

6.85

0.353

0.37

−0.014

1.10E-28

0.00

6.39E-38

rs4837104

9

129433929

LMX1B

A/G

0.05

0.024

1.43E-04

0.27

0.021

4.29E-07

0.022

7.35E-10

0.00

0.956

0.04

0.022

1.90E-12

0.00

2.73E-24

rs3132309

9

137433436

COL5A1

A/C

0.42

−0.015

3.52E-08

0.44

−0.011

7.98E-04

−0.014

2.27E-10

0.00

0.550

0.41

−0.013

3.10E-24

0.00

7.00E-35

rs11204213a

10

48388228

RBP3

T/C

0.00

NA

NA

0.04

0.071

9.83E-13

0.071

9.83E-13

0.00

0.741

0.00

0.063

1.50E-01

0.00

4.36E-13

rs166976

10

90024599

RNLS

A/G

0.72

−0.018

1.26E-10

0.80

−0.012

1.45E-03

−0.016

2.47E-12

5.52

0.378

0.73

−0.015

3.80E-30

0.00

4.17E-44

rs10786330

10

99074959

FRAT1/FRAT2/ARHGAP19

A/C

0.58

0.012

2.47E-06

0.65

0.013

6.11E-05

0.012

1.22E-09

0.00

0.980

0.60

0.008

4.00E-12

1.93

1.54E-19

rs807037

10

102824349

KAZALD1

C/G

0.67

−0.014

4.33E-08

0.49

−0.017

2.02E-07

−0.015

1.43E-13

0.00

0.631

0.66

−0.017

9.10E-42

0.00

7.12E-54

rs7948458

11

2172830

IGF2

A/C

0.20

−0.014

9.53E-06

0.51

−0.015

5.33E-06

−0.014

4.90E-10

40.44

0.008

0.19

−0.016

6.50E-26

0.00

1.66E-36

rs11181913

12

43574200

ADAMTS20

A/G

0.90

0.020

2.02E-06

0.92

0.018

3.50E-03

0.019

3.30E-08

0.00

0.645

0.91

0.016

4.40E-14

0.00

1.03E-22

rs7959830

12

66347368

HMGA2

T/G

0.42

−0.020

2.53E-16

0.80

−0.009

5.66E-02

−0.018

3.02E-16

34.50

0.027

0.42

−0.018

3.30E-17

5.41

9.35E-47

rs9506725a

13

22314146

FGF9

T/C

0.64

0.019

3.07E-14

1.00

NA

NA

0.019

3.07E-14

0.33

0.456

0.63

0.020

5.10E-59

0.00

1.21E-78

rs9316971

13

22980191

SNORD36

T/C

0.28

−0.015

2.43E-07

0.48

−0.010

1.63E-03

−0.013

3.21E-09

32.34

0.044

0.29

−0.009

2.20E-12

1.91

3.51E-21

rs7327381

13

52006645

INTS6

T/C

0.40

0.015

2.16E-09

0.53

0.013

4.27E-05

0.014

8.06E-13

0.00

0.829

0.41

0.012

1.50E-23

0.00

3.74E-34

rs75772222

14

25447080

STXBP6

T/C

0.11

0.021

3.21E-08

0.07

0.024

4.55E-05

0.021

1.28E-11

0.00

0.983

0.11

0.020

5.00E-27

0.00

9.79E-38

rs4083463

14

81856323

STON2

A/G

0.31

0.012

1.91E-06

0.34

0.011

7.14E-04

0.012

7.92E-09

4.26

0.397

0.33

0.010

2.00E-16

0.00

3.12E-24

rs9806595

15

48755168

FBN1

T/C

0.77

−0.009

1.68E-03

0.67

−0.018

1.49E-07

−0.012

2.23E-08

0.00

0.691

0.77

−0.004

4.20E-03

10.40

6.43E-09

rs4887113

15

79095287

ADAMTS7

T/C

0.40

0.016

3.08E-09

0.18

0.021

1.21E-03

0.016

2.57E-11

0.00

0.798

0.45

0.012

1.60E-24

2.11

5.74E-38

rs184926585

18

32643292

MAPRE2

T/C

0.93

−0.020

2.19E-05

0.82

−0.021

2.63E-04

−0.020

3.61E-08

0.00

0.756

0.92

−0.007

1.30E-03

11.53

4.86E-11

rs6064518

20

55821046

BMP7

T/G

0.33

0.017

4.85E-11

0.16

0.021

1.11E-03

0.017

3.47E-13

0.00

0.809

0.32

0.013

1.20E-24

2.15

6.73E-40

rs13050142

21

47427165

COL6A1

T/C

0.29

−0.016

1.71E-08

0.22

−0.022

9.43E-05

−0.017

1.86E-11

0.00

0.964

0.31

−0.013

4.80E-25

1.87

2.45E-40

  1. Lead variants shown were genome-wide significant (P < 5.0E-8) in subjects of CREAM of European and Asian ancestry (Stage 1), with results of replication in UK Biobank data (Stage 2). Variants in bold indicate new loci.
  2. SNP single-nucleotide polymorphism, Chr chromosome; Nearest gene in 200 kb flanking the lead SNP based on NCBI build 37; A1 effect allele, A2 reference allele, EAF effect allele frequency, β effect size of corneal curvature in millimeter based on the effect allele A1; Het-I2: heterogeneous effects I2 (%) between the Studies.
  3. aLead SNPs identified were monomorphic/extremely rare in Europeans or Asian populations.
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