Skip to main content

Table 2 Candidate approach to search for early AMD association

From: Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease

Rs identifier

chr:pos [hg19]

Locus (Holliday et al.)

EA

OA

Holliday et al.

this meta-analysis (excluding ARIC, CHS)

P (combined)

Known advanced AMD locus (Fritsche et al.)

EAF

OR [CI 95%]

P

EAF

OR [CI 95%]

P

Neff

Experiment-wise significant association (P < 0.05/14)

 rs1967689

1:208039471

CD34,CD46

C

G

0.25

0.85 [0.80;0.91]

5.1E-06

0.24

0.93 [0.90;0.96]

2.5E-05

42,119

5.5E-09

no

 rs621313

11:88913663

TYR

A

G

0.51

0.87 [0.83;0.92]

3.5E-06

0.52

0.95 [0.93;0.98]

6.8E-04

41,661

1.7E-07

no

 rs6857

19:45392254

PVRL2

T

C

0.15

0.81 [0.74;0.88]

1.4E-06

0.16

0.92 [0.89;0.96]

7.1E-05

38,938

9.8E-09

yes

 rs2075650

19:45395619

APOE/TOMM40

A

G

0.86

1.23 [1.13;1.34]

1.1E-06

0.86

1.08 [1.04;1.13]

2.6E-04

40,405

9.0E-08

yes

No experiment-wise significant association (P ≥ 0.05/14):

 rs16851585

1:177568799

–

C

G

0.92

0.77 [0.69;0.86]

5.0E-06

0.89

1.04 [0.99;1.09]

0.099

42,119

0.74

no

 rs6721654

2:121301911

GLI2,INHBB

T

C

0.08

1.26 [1.14;1.4]

6.5E-06

0.08

1.01 [0.96;1.07]

0.65

41,718

0.017

no

 rs17586843

4:116924184

–

T

C

0.78

1.18 [1.1;1.27]

1.5E-06

0.78

1.02 [0.98;1.05]

0.31

42,119

0.0048

no

 rs7750345

6:106260128

–

A

G

0.75

1.16 [1.09;1.24]

6.8E-06

0.74

1.02 [0.98;1.05]

0.32

42,119

0.0049

no

 rs2049622

7:42176282

GLI3

A

G

0.49

0.87 [0.83;0.93]

8.9E-06

0.52

0.99 [0.96;1.02]

0.41

42,060

0.015

no

 rs11986011

8:127332657

FAM84B

T

C

0.02

2.5 [1.68;3.71]

5.0E-06

–

–

–

–

 

no

 rs6480975

10:54574996

MBL2

C

G

0.84

1.21 [1.12;1.32]

2.8E-06

0.85

0.99 [0.95;1.03]

0.63

40,651

0.17

no

 rs4293143

11:82821382

PCF11,RAB30

T

G

0.69

0.85 [0.79;0.91]

7.8E-06

0.70

0.99 [0.96;1.02]

0.50

42,119

0.0094

no

 rs9646096

13:38065446

POSTN,TRPC4

A

C

0.95

0.74 [0.65;0.84]

6.0E-06

0.96

0.99 [0.92;1.06]

0.76

39,782

0.0087

no

 rs10406174

19:3944240

ITGB1BP3,DAPK3

A

G

0.11

1.24 [1.13;1.36]

5.6E-06

0.11

1.00 [0.93;1.07]

0.92

17,936

0.0057

yes

  1. EA effect allele, OA other allele, EAF effect allele frequency, OR odds ratio, CI confidence interval, P P value from Holliday et al. or Double GC corrected early association P value from this meta-analysis, Neff effective sample size
  2. The table shows results for the 14 lead variants reported as suggestive for early AMD by Holliday et al. [12] (effective sample size = 13,631) for their association with early AMD in our non-overlapping data set (P < 0.05/14 = 0.0036, tested at Bonferroni-corrected significance level, effective sample size up to 42,119) and in the combined analysis of the reported and our non-overlapping data (PCombined < 5.0 × 10−8, effective sample size up to 55,750). The ARIC and CHS studies were excluded from our meta-analysis data to avoid overlap with the data by Holliday et al. [12]. The last column indicates whether the locus was identified by Fritsche et al. for advanced AMD [9]