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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
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BMC Genomics

ISSN: 1471-2164

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