Table 1 Major results from the FECD genome-wide association study.

From: Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy

Gene

SNP

Chr

Pos

All.

Discovery cohort ( n =3,968)

Replication Cohorts ( n =1,449)

Combined ( n =5,417)

     

RAF case

RAF ctrl

OR (95% CI)

P disc

OR (95% CI)

P repl

OR (95% CI)

P combined

Q p

KANK4

rs79742895

1

62,782,860

C/T

0.0889

0.0474

2.07 (1.69, 2.54)

2.5 × 10−12

2.18 (1.36, 3.50)

1.2 × 10−03

2.09 (1.73, 2.52)

1.2 × 10−14

0.83

ATP1B1

rs1200114

1

169,060,489

G/A

0.4277

0.3411

1.43 (1.29, 1.57)

8.0 × 10−13

1.53 (1.30, 1.79)

1.7 × 10−07

1.45 (1.34, 1.58)

9.9 × 10−19

0.48

LAMC1

rs3768617

1

183,092,500

A/G

0.3553

0.4214

0.75 (0.68, 0.82)

8.8 × 10−09

0.62 (0.53, 0.72)

2.1 × 10−09

0.71 (0.65, 0.77)

6.9 × 10−16

0.26

CFH

rs2274700

1

196,682,947

T/C

0.4287

0.3709

1.31 (1.19, 1.44)

3.4 × 10−08

1.08 (0.91, 1.27)

3.8 × 10−01

1.25 (1.15, 1.36)

1.8 × 10−07

0.097

SLC25A22

rs12223324

11

772,701

A/G

0.4826

0.5445

0.77 (0.70, 0.85)

2.1 × 10−07

0.92 (0.79, 1.07)

2.7 × 10−01

0.81 (0.75, 0.88)

7.3 × 10−07

0.24

TCF4

rs784257

18

53,397,199

A/G

0.4779

0.1796

5.77 (5.05, 6.60)

3.1 × 10−146

3.89 (3.30, 4.59)

6.3 × 10−59

4.94 (4.45, 5.48)

2.5 × 10−200

0.0041

  1. All., alleles with reference allele first; CI, confidence interval; Chr, chromosome; OR, odds ratio; Qp, P value from Cochran’s Q test for heterogeneity; Pos, hg37 physical map position; RAF case and RAF ctrl, reference allele frequency in cases and controls, respectively.