Table 1 Genome-wide significant loci for calcific aortic valve stenosis from the meta-analysis

From: Integrative genomic analyses identify candidate causal genes for calcific aortic valve stenosis involving tissue-specific regulation

Locus

rsID

Chr

Pos

RA/NRA

RAF

OR (95% CI)

P

I2 (%)

PHet

Gene

Novel

1

rs2077522

1

87917746

C/T

0.592

1.08 (1.06–1.11)

3.1E−10

0.0

0.60

LMO4

Yes

2

rs6702619

1

100046246

G/T

0.496

1.18 (1.15–1.21)

3.9E−40

0.0

0.51

PALMD

No

3

rs1016819

1

170645774

G/C

0.341

1.11 (1.08–1.14)

1.2E−14

0.0

0.81

PRRX1

No

4

rs682112

1

201746768

A/G

0.398

1.11 (1.08–1.14)

3.2E−14

49.9

0.09

NAV1

No

5

rs771264

2

7129124

C/T

0.496

1.07 (1.04–1.10)

5.0E−08

69.1

0.0064

RNF144A

Yes

6

rs62139061

2

65498805

C/T

0.300

1.09 (1.06–1.12)

4.0E−10

24.6

0.25

ACTR2

No

7

rs72854462

2

145720139

A/G

0.735

1.15 (1.12–1.19)

1.7E−22

16.4

0.31

ZEB2a

No

8

rs111825950

3

153748291

T/TTTCA

0.197

1.11 (1.08–1.15)

1.1E−10

0.0

0.49

ARHGEF26

No

9

rs11330858

3

169202578

A/AT

0.489

1.08 (1.05–1.11)

1.3E−09

0.0

0.43

MECOM

No

10

rs1706003

3

194299967

G/T

0.542

1.09 (1.06–1.12)

3.1E−11

0.0

0.69

TMEM44

Yes

11

rs3103933

3

195485440

A/G

0.305

1.12 (1.08–1.16)

6.1E−09

33.6

0.20

MUC4

Yes

12

rs147558377

4

55113623

G/C

0.149

1.10 (1.07–1.14)

2.4E−08

0.0

0.79

PDGFRA

Yes

13

rs182432302

5

45560981

T/C

0.970

1.33 (1.20–1.47)

2.3E−08

0.0

0.98

HCN1

Yes

14

rs1965668

5

172653401

G/C

0.687

1.08 (1.05–1.11)

1.6E−08

0.0

0.65

NKX2-5

Yes

15

rs10455872

6

161010118

G/A

0.063

1.53 (1.45–1.61)

3.0E−61

52.3

0.063

LPA

No

16

rs7804522

7

19458058

C/G

0.421

1.07 (1.05–1.10)

1.9E−08

28.4

0.22

FERD3L

Yes

17

rs1800797

7

22766221

A/G

0.480

1.12 (1.09–1.15)

1.3E−19

0.0

0.96

IL6

No

18

rs2286427

7

76024520

T/C

0.162

1.10 (1.06–1.14)

4.6E−08

0.0

0.91

SSC4D

Yes

19

rs11570891

8

19822810

C/T

0.894

1.20 (1.13–1.28)

7.2E−09

0.0

0.62

LPL

Yes

20

rs17810852

9

136365075

G/A

0.458

1.08 (1.05–1.10)

1.1E−08

0.0

0.43

MYMK

Yes

21

rs187229435

11

805953

C/G

0.021

1.29 (1.19–1.40)

1.6E−09

56.3

0.043

PIDD1

Yes

22

rs174551

11

61573684

T/C

0.620

1.09 (1.06–1.12)

3.1E−10

0.6

0.40

FADS1

No

23

rs12270146

11

69163441

G/A

0.322

1.09 (1.06–1.12)

8.3E−10

0.0

0.89

MYEOV

Yes

24

rs10770612

12

20230639

A/G

0.779

1.12 (1.08–1.15)

6.6E−13

40.9

0.13

PDE3A

Yes

25

rs17766960

12

66407417

G/T

0.816

1.10 (1.07–1.14)

1.6E−09

0.0

0.61

HMGA2

Yes

26

rs12429277

13

37445944

A/C

0.247

1.08 (1.05–1.12)

2.3E−08

0.0

0.50

SMAD9

Yes

27

rs28744617

15

42981022

A/G

0.763

1.09 (1.06–1.12)

2.2E−08

0.0

0.90

STARD9

No

28

rs4646642

15

58246916

A/G

0.446

1.08 (1.05–1.10)

4.2E−09

0.0

0.72

ALDH1A2

Yes

29

rs2869553

15

79012613

G/T

0.240

1.09 (1.05–1.12)

2.9E−08

76.0

0.00086

ADAMTS7

Yes

30

rs150429885

16

75498252

CT/C

0.613

1.08 (1.06–1.11)

1.9E−09

0.0

0.97

TMEM170A

No

31

rs6511720

19

11202306

G/T

0.892

1.12 (1.08–1.17)

2.5E−08

0.0

0.89

LDLR

Yes

32

rs61736786

22

30189642

T/C

0.043

1.19 (1.12–1.26)

3.5E−08

35.5

0.17

ASCC2

Yes

  1. The association of each variant with calcific aortic valve stenosis was obtained from an inverse-variance weighted fixed-effect meta-analysis combining the effect per allele in the cohorts with available data.
  2. Genes in bold are significant in MAGMA gene-based analysis (P < 0.00039 corresponding to false discovery rate <5%).
  3. Pos position according to GRCh37, RA risk allele, NRA non-risk allele, RAF risk allele frequency, I2 heterogeneity statistic, PHet heterogeneity p-value (Cochran’s Q-test), Gene Nearest protein-coding gene.
  4. aLocated in lncRNA TEX41
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