Table 1 AD GWAS novel loci

From: Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitis

Lead Variant

Chr:Pos

Nearest gene

OpenTargets V2G

P-value

Effect size

SE

MAF

GWAS meta-analysis

Replication study (P < =5e−06)

rs11247907

1:26309552

CD52

UBXN11

4.97E−08

0.05

0.009

0.17

MULTI

Hirota15, Budu-Aggrey14

rs10183338

2:110853239

ACOXL

BCL2L11

2.15E−10

−0.05

0.008

0.30

MULTI + EUR

 

rs10195173

2:190753596

NAB1

GLS

6.49E−09

−0.04

0.007

0.40

MULTI + EUR

 

rs140759564

2:201461659

STRADB

PPIL3

2.75E−08

0.21

0.038

0.02

MULTI + EUR

 

rs7731626

5:56148856

IL6ST

ANKRD55

3.59E−09

−0.05

0.008

0.27

MULTI + EUR

 

rs9313491

5:157194894

ITK

ITK

2.27E−08

−0.04

0.007

0.37

MULTI

Budu-Aggrey14

rs9494672

6:137152938

IL22RA2

IL22RA2

2.57E−10

0.13

0.021

0.03

MULTI

Budu-Aggrey14

rs7758477

6:154790790

TIAM2

SCAF8

2.10E−08

0.05

0.008

0.43

EUR

 

rs7787688

7:22768265

IL6

STEAP1B

2.26E−08

0.04

0.008

0.51

MULTI

 

rs79376089

8:60929420

CHD7

CHD7

6.92E−11

0.12

0.018

0.05

MULTI + EUR

Budu-Aggrey14

rs11817236

10:60742008

CDK1

ANK3

3.44E−08

−0.04

0.008

0.48

EUR

 

rs541390276

11:67602285

NDUFV1

GSTP1

8.81E−09

0.18

0.032

0.02

MULTI + EUR

 

rs718389

12:874384

RAD52

WNK1

2.67E−09

0.05

0.009

0.42

EUR

Budu-Aggrey14

rs175714

14:75515513

BATF

BATF

4.48E−09

0.04

0.007

0.49

MULTI

Baurecht16

rs68154225

17:78372835

PGS1

SOCS3

3.62E−08

−0.09

0.016

0.05

MULTI

Budu-Aggrey14

rs11152086

18:58572798

ALPK2

ALPK2

4.02E−09

0.06

0.009

0.23

EUR

 
  1. Summary statistics and genomic context of the 16 AD GWAS loci not previously reported in eczema and AD GWAS studies (Methods). Genomic coordinates based on human genome reference hg38. Nearest gene and OpenTargets V2G annotation approaches are described in Methods. P-value, effect size and standard error (SE) estimates are derived from a two-sided test for effect size in a fixed-effect inverse variance weighted approach (Methods). Minor Allele Frequency (MAF) corresponds to effect allele frequency. Summary statistics correspond to the multi-ancestry (MULTI) AD GWAS meta-analysis, or to the European (EUR) GWAS meta-analysis for cases with detectable signal only in that cohort—rs7758477, rs11817236, rs718389 and rs11152086. The GWAS p-values considered for replication correspond to ones reported to the EBI GWAS Catalog by corresponding authors.