Table 4. Enriched pathways among the top 5% of genes associated with AD from GWAS in Swedes.
| GO Term | Top 5% | Total | P-value | Permuted-P | Contributing genes |
|---|---|---|---|---|---|
| 5′\-nucleotidase activity | 3 | 8 | 1.9E-07 | 1.5E-03 | NT5C,NT5C2,NT5E |
| positive regulation of glucose import | 6 | 26 | 6.6E-07 | 5.0E-04 | AKT2,CLTCL1,ERBB4,IGF1,IRS1,PRKCZ |
| positive regulation of glucose transport | 6 | 28 | 1.5E-06 | 5.0E-04 | AKT2,CLTCL1,ERBB4,IGF1,IRS1,PRKCZ |
| negative chemotaxis | 4 | 20 | 1.0E-05 | 3.0E-03 | ANGPT2,CXCR4,ROBO2,SLIT3 |
| multicellular organismal lipid catabolic process | 6 | 35 | 1.1E-05 | 5.0E-04 | AKT2,APOC1,FABP1,IRS1,NIACR1,NIACR2 |
| regulation of translation in response to stress | 3 | 9 | 1.3E-05 | 5.5E-03 | EIF2B3,EIF2S1,PML |
| pullulan biosynthetic process | 4 | 18 | 2.7E-05 | 3.5E-03 | AKT2,IGF1,IRS1,PPP1R3C |
| aminoglycan catabolic process | 4 | 21 | 2.7E-05 | 3.5E-03 | CHI3L2,CHIA,FUCA1,HYAL2 |
| I\-SMAD binding | 3 | 10 | 5.5E-05 | 4.5E-03 | SMAD1,SMAD6,TGFBR1 |
| negative regulation of lipid catabolic process | 3 | 15 | 5.5E-05 | 7.0E-03 | APOC1,NIACR1,NIACR2 |
Enrichment was assessed using GO-elite with a default 2000 permutations. Top 5% specifies the number of genes with associated the GO-term in the input gene-based results list. Total refers to the number of genes with the annotation in the full result consisting of 13272 genes.
Presented P-values are unadjusted for multiple testing. Contributing genes are those listed in Top 5% with the specified annotation.