Table 4 Genotype-specific gene expression of trait-associated SNPs or proxies (LD R2 > = 0.50).

From: Genetic analysis of the PCSK9 locus in psychological, psychiatric, metabolic and cardiovascular traits in UK Biobank

Trait

Lead SNP

Proxy SNP

Position

R2

D'

Gene

Tissue

EAF

Effect

P value

SBP

rs2647282

 

55,724,437

  

MROH7

Esophagus-Mucosa

A = 0.324

−0.119

1.11E-04

      

USP24

Heart-Atrial Appendage

A = 0.324

−0.139

3.08E-06

      

USP24

Muscle-Skeletal

A = 0.324

−0.080

9.75E-06

      

USP24

Nerve-Tibial

A = 0.324

−0.093

1.43E-04

      

USP24

Skin-Sun Exposed (Lower leg)

A = 0.324

−0.115

5.28E-07

      

USP24

Skin-Not Sun Exposed (Suprapubic)

A = 0.324

−0.185

2.44E-11

WHRadjBMI

rs7543163

rs11206513

55,507,649

0.915

1.000

DHCR24

Brain-Cortex

T = 0.544

0.129

5.06E-05

  

rs11206514

55,516,004

1.000

1.000

DHCR24

Brain-Cortex

A = 0.566

0.128

4.83E-05

  

rs11436234

55,511,623

0.893

0.977

DHCR24

Brain-Cortex

TC = 0.549

0.136

2.47E-05

  

rs7530425

55,511,471

0.915

1.000

DHCR24

Brain-Cortex

T = 0.544

0.136

2.47E-05

  

rs10888896

55,509,213

0.579

1.000

PCSK9

Adipose-Visceral (Omentum)

C = 0.692

−0.277

2.66E-05

  

rs10888898

55,516,508

0.978

1.000

PCSK9

Skin-Not Sun Exposed (Suprapubic)

G = 0.56

−0.138

9.28E-05

  

rs2479410

55,505,861

0.619

0.814

PCSK9

Brain-Cerebellum

A = 0.418

−0.369

9.61E-05

      

PCSK9

Skin-Not Sun Exposed (Suprapubic)

A = 0.418

0.162

1.73E-05

  

rs644000

55,511,995

0.694

0.902

PCSK9

Skin-Not Sun Exposed (Suprapubic)

G = 0.396

0.152

4.58E-05

  

rs6681159

55,507,882

0.579

1.000

PCSK9

Adipose-Visceral (Omentum)

T = 0.692

−0.255

5.79E-05

  

rs7543163

55,515,481

1.000

1.000

USP24

Heart-Atrial Appendage

T = 0.566

0.116

8.22E-05

  1. Proxies are defined as SNPS in at least moderate LD (LD R2 > = 0.50). Variant positions are given aligned to GRCH38.