Table 1 Discovery and replication analyses to identify SNPs associated with CSC.

From: Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy

 

SNP

rs13278062

rs6061548

 

Nearby genes

TNFRSF10A-LOC389641 (in gene)

GATA5 (Nearby)

 

Effect allele

T

T

 

CHR: position

8: 23082971

20: 61033892

Stage

Ethnicities

CSC

Control

OR (95% CI)

P

CSC

Control

OR (95% CI)

P

N

EAF

N

EAF

N

EAF

N

EAF

Discovery GWAS

Japanese

610

0.421

2850

0.345

1.38 (1.22–1.57)

5.94 × 10−7*

610

0.138

2850

0.088

1.64 (1.36–1.98)

2.52 × 10−7*

Replication stage 1

Japanese

277

0.392

5449

0.324

1.35 (1.13–1.60)

8.97 × 10−4*

278

0.128

4546

0.095

1.39 (1.07–1.80)

0.0128*

Replication stage 2

Japanese

137

0.409

1153

0.368

1.19 (0.92–1.53)

0.189*

137

0.161

1153

0.077

2.29 (1.60–3.27)

5.55 × 10−6*

Replication stage 3

European

521

0.591

3577

0.520

1.36 (1.18–1.56)

1.47 × 10−5†

521

0.082

3577

0.051

1.60 (1.23–2.07)

5.80 × 10−4†

Meta-analysis of Japanese Data (discovery + replication 1 + replication 2)

 

Japanese

1024

 

9452

 

1.34 (1.22–1.48)

1.45 × 10−9

1025

 

8549

 

1.64 (1.43–1.89)

3.38 × 10−12

Meta-analysis of Japanese Data and European Data

 

Japanese and European

1545

 

13,029

 

1.35 (1.24–1.46)

1.26 × 10−13

1546

 

12,126

 

1.63 (1.44–1.85)

5.36 × 10−15

  1. All meta-analyses were performed using a fixed-effect model
  2. CHR chromosome, EAF effect allele frequency, CSC central serous chorioretinopathy, OR odds ratio, CI confidence interval
  3. *P-values were derived using logistic regression analysis. †P-values were derived using association analysis
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