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Table 1 Pathways highly associated with AMD in collective inference

From: Genotype distribution-based inference of collective effects in genome-wide association studies: insights to age-related macular degeneration disease mechanism

Rank

Pathway

No. of SNPs

AUC a

p-value b

1

Regulation of complement cascade

448

0.688 (0.018)

9×10−16

2

Complement cascade

869

0.684 (0.018)

2×10−15

3

Innate immune system

14, 406

0.627 (0.019)

2×10−10

4

Immune system

25, 770

0.601 (0.020)

3×10−8

5

Activation of C3 and C5

147

0.587 (0.020)

5×10−7

6

Initial triggering of complement

522

0.584 (0.020)

1×10−6

7

Alternative complement activation

118

0.581 (0.020)

2×10−6

8

Regulation of TP53 activity through methylation

322

0.581 (0.020)

2×10−6

9

Synthesis of phosphatidic acid

559

0.575 (0.020)

7×10−6

10

Glycerophospholipid biosynthesis

1, 969

0.571 (0.020)

1×10−5

11

Protein folding

1, 777

0.570 (0.020)

2×10−5

12

Chaperonin-mediated protein folding

1, 661

0.570 (0.020)

2×10−5

13

Degradation of extracellular matrix

2, 324

0.570 (0.020)

2×10−5

  1. a95 % C.I. in parentheses
  2. bEstimated from the regression in Fig. 9 b
  3. C3, complement component 3
  4. C5, complement component 5
  5. TP53, tumor protein p53