Table 1 Significant associations with distensibility in single and multi-trait (MTAG) genome-wide analyses

From: Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities

Locus

Lead SNP rsID

Chr

BP

Annotation

Closest gene

Effect allele

Non-effect allele

EAF

No. of lead SNPs

Beta

P

Trait association reaching genome-wide significance

1*

rs835341

1

53064012

intergenic

GPX7

A

G

0.47

1

0.027

7.78E-09

AAdis

2

rs824510

2

19725556

intergenic

AC010096.2

G

A

0.68

1

0.037

3.73E-14

AAdis

3

rs9306895

2

20878153

ncRNA_exonic

AC012065.7: RP11-130L8.1

T

C

0.64

1

0.038

4.87E-17

DAdis

4$

rs6724315

2

46363699

intronic

PRKCE

T

C

0.87

1

−0.053

3.00E-08$

DAdis

5

rs35303331

2

164921770

ncRNA_intronic

AC092684.1

A

G

0.77

1

0.031

2.04E-08

AAdis

6#

rs541051407

3

41871295

intronic

ULK4

G

C

0.88

1

−0.058

2.20E-08#

AAdis

7*

rs7638565

3

64723072

ncRNA_intronic

ADAMTS9-AS2

A

G

0.40

1

0.026

4.53E-08

AAdis

8

rs55914222

3

128202943

intronic

GATA2

G

C

0.97

1

−0.086

8.48E-10

AAdis

9

rs79957887

3

187006335

intronic

MASP1

C

T

0.92

1

0.054

3.14E-11

DAdis

10

rs17020769

4

146800922

intronic

ZNF827

C

T

0.52

1

0.025

4.00E-08

AAdis

11*

rs13158444

5

51201361

intergenic

RNA5SP182

T

C

0.40

1

−0.027

9.61E-09

AAdis

12

rs79051849

5

81848970

intergenic

CTD-2015A6.1

A

G

0.81

1

−0.039

5.29E-11

AAdis

13

rs201281936

5

95606717

ncRNA_intronic

CTD-2337A12.1: RP11-254I22.2

A

C

0.64

2

−0.053

4.79E-28

AAdis

14

rs337101

5

122550646

intergenic

PRDM6

T

C

0.72

2

0.034

2.93E-11

AAdis

15

rs2490445

6

12544672

intergenic

RPL15P3

T

C

0.70

1

0.028

2.29E-08

AAdis

16*

rs1406667

6

122178493

downstream

HMGB3P18

A

G

0.90

1

0.043

3.53E-09

DAdis

17

rs56072713

7

73427710

intergenic

ELN

G

A

0.54

1

0.034

1.83E-15

DAdis

17

rs7795735

7

73429482

intergenic

ELN

T

A

0.55

4

0.077

4.78E-62

AAdis

18

rs9721183

8

75781818

intergenic

RP11-758M4.4

C

T

0.63

1

−0.033

1.39E-11

AAdis

19*

rs7832313

8

92198211

intronic

LRRC69

G

A

0.31

1

0.026

1.48E-08

DAdis

20

rs11992999

8

122639443

intronic

HAS2

T

C

0.71

1

−0.038

4.42E-14

AAdis

21

rs34557926

8

124607159

intergenic

RN7SKP155

C

T

0.64

1

0.039

7.75E-16

AAdis

21

rs7006122

8

124608614

intergenic

RN7SKP155

T

G

0.64

2

0.030

1.54E-11

DAdis

22

rs9702161

10

30077914

intergenic

SVIL

T

C

0.29

1

−0.029

1.52E-08

AAdis

22

rs7096778

10

30165983

intergenic

RP11-224P11.1; SVIL

T

C

0.41

2

−0.030

3.75E-12

DAdis

23$

rs10857614

10

49829983

intronic

ARHGAP22

T

C

0.52

1

0.034

4.10E-08$

AAdis

24

rs10761716

10

64882300

intergenic

RP11-144G16.1

C

G

0.56

1

−0.026

4.34E-08

AAdis

25

rs78629306

10

95897188

intronic

PLCE1

G

C

0.82

2

0.039

2.76E-10

AAdis

25

rs61886305

10

95902053

intronic

PLCE1

C

A

0.83

6

0.051

2.49E-19

DAdis

26

rs875106

11

70005641

intronic

ANO1

G

A

0.48

2

−0.027

8.77E-09

AAdis

27

rs11046213

12

22008367

ncRNA_intronic

ABCC9:RP11-729I10.2

G

T

0.59

1

−0.032

1.18E-11

AAdis

28*

rs61927702

12

33631695

intergenic

RP11-56H16.1

A

G

0.47

1

−0.026

2.87E-09

DAdis

29

rs12863716

13

22862729

intergenic

MTND3P1

C

T

0.78

1

−0.042

1.23E-13

AAdis

30*

rs8014161

14

92393198

intronic

FBLN5

T

A

0.64

1

−0.032

1.91E-12

DAdis

31

rs1441358

15

71612514

intronic

THSD4

T

G

0.66

1

−0.032

6.42E-11

AAdis

32

rs77870048

16

69965021

intronic

WWP2

C

T

0.95

1

−0.066

1.59E-10

AAdis

33*

rs3851734

16

75371920

intronic

CFDP1

T

C

0.41

1

−0.029

2.98E-11

DAdis

34#

rs2228685

16

83065965

intronic

CDH13

T

A

0.46

1

0.037

2.80E-09#

AAdis

35

rs28375406

16

88996841

intronic

CBFA2T3

A

G

0.63

1

−0.026

3.88E-08

AAdis

36

rs57130712

17

2089035

intronic

SMG6

A

G

0.69

3

0.042

3.46E-17

AAdis

36

rs1532292

17

2097483

intronic

SMG6

T

G

0.62

1

0.027

5.57E-10

DAdis

37*

rs112009052

19

41099501

intronic

LTBP4

T

A

0.99

1

−0.105

2.46E-08

DAdis

38*

rs28451064

21

35593827

ncRNA_intronic

AP000320.7: AP000318.2

G

A

0.87

1

−0.039

1.39E-08

AAdis

  1. Summary statistics are shown for lead SNPs which were genome-wide significant (p < 5 × 10−8) in MTAG analysis apart from the four loci identified by # or $ which were significant in single-trait analysis only. LD information for the lead SNPs at these four loci is provided in Supplementary Data 8. # = genome-wide significant in only the single-trait analysis, not the multi-trait analysis, but also significantly associated with aortic area traits. $ = genome-wide significant in only the single-trait analysis of distensibility and in no other aortic traits. *=novel locus not identified in previous GWAS of ascending or descending aortic traits. Where loci overlapped, different lead SNPs are listed separately under the same locus number. MAF minor allele frequency, Chr chromosome, BP position (GRCh37); P unadjusted p value of association (mixed model association implemented in BOLT-LMM89 for shaded loci; multi-trait association analysis implemented in MTAG28 for all other loci).
Back to article page