Table 2 AMD-linked proteins associated with AMD genetic risk variants using linear regression.

From: A proteogenomic signature of age-related macular degeneration in blood

Protein

AMD varianta

Effect of variant on serum protein levelsb

 

SNP

Most proximal gene

β-value

P-value

pQTL

NDUFS4

rs10922109

CFH

0.5854

9.86E-223

Trans

 

rs570618

CFH

−0.8904

1.20E-566

Trans

CFHR1

rs10922109

CFH

−0.5848

1.16E-234

Cis

 

rs570618

CFH

0.4675

1.37E-139

Cis

FUT5

rs12019136

FUT6

−0.9998

6.51E-86

Cis

TST

rs10922109

CFH

0.5241

3.69E-178

Trans

 

rs570618

CFH

−0.7866

1.36E-424

Trans

BAMBI

rs570618

CFH

0.1364

1.03E-14

Trans

BPIFB1

None

N/A

N/A

N/A

N/A

CEBPB

rs570618

CFH

0.0959

4.59E-08

Trans

ST6GALNAC1

rs10922109

CFH

−0.1018

3.12E-08

Trans

 

rs570618

CFH

0.1488

2.00E-15

Trans

 

rs11080055

TMEM97

−0.2254

7.21E-37

Trans

DLL3

rs10922109

CFH

−0.1219

1.98E-11

Trans

 

rs570618

CFH

0.1593

7.24E-18

Trans

UTS2

rs570618

CFH

0.1301

3.88E-13

Trans

 

rs11080055

TMEM97

−0.1874

3.84E-28

Trans

TNFRSF14

rs570618

CFH

0.1272

2.14E-11

Trans

 

rs2230199

C3

0.1693

3.96E-17

Trans

CXCL17

None

N/A

N/A

N/A

N/A

RGS8

rs570618

CFH

0.1711

7.43E-20

Trans

RAB17

rs570618

CFH

0.1631

6.24E-19

Trans

HNRNPC

rs11080055

TMEM97

−0.0957

2.18E-07

Trans

CRABP1

rs570618

CFH

0.1003

1.74E-08

Trans

 

rs11080055

TMEM97

−0.1854

5.16E-28

Trans

CFHR5

rs570618

CFH

0.2284

4.53E-32

Cis

RPS6KB1

None

N/A

N/A

N/A

N/A

ZPBP

rs570618

CFH

0.1016

3.81E-09

Trans

 

rs11080055

TMEM97

−0.1301

2.27E-15

Trans

KREMEN2

rs570618

CFH

0.0866

3.55E-07

Trans

CCL1

rs570618

CFH

0.1820

1.71E-22

Trans

CFP

rs10922109

CFH

0.3049

2.64E-62

Trans

 

rs570618

CFH

−0.3028

3.82E-59

Trans

GHR

None

N/A

N/A

N/A

N/A

LINGO1

None

N/A

N/A

N/A

N/A

B3GNT6

None

N/A

N/A

N/A

N/A

C2orf40

rs570618

CFH

0.1704

4.25E-19

Trans

 

rs11080055

TMEM97

−0.1099

1.68E-09

Trans

BCL2L1

rs570618

CFH

0.1611

3.94E-18

Trans

BIRC2

rs429358

APOE

−0.5793

1.54E-106

Trans

  1. Cis proximal effect, Trans distal effect, N/A not applicable.
  2. aAMD associated variants are from Fritsche et al.10 and highlighted in Supplementary Data 7.
  3. bReported P-values are two-sided derived from sex and age-adjusted linear regression analysis. The effect alleles for each corresponding pQTL13 are shown in Supplementary Data 8 and 9. To account for multiple comparisons, significant associations with P-values of <1 × 10−6 are reported.
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