Table 3.
Identification of pathway underlying complex traits using gene enrichment.
| Gene ontology cellular localization | Fold enriched | Fisher’s exact test | p-Value |
|---|---|---|---|
| Mitochondrion (GO:005739) | 2.0 | 2.8 × 10−9 | 5.9 × 10−9 |
| Mitochondrial part (GO:0044429) | 2.2 | 2.3 × 10−5 | 5.2 × 10−5 |
| Golgi apparatus (GO:0005794) | 1.9 | 8.0 × 10−5 | 1.6 × 10−4 |
| Mitochondrial envelope (GO:0005740) | 2.1 | 4.4 × 10−4 | 1.0 × 10−3 |
| Endosome (GO:0005768) | 2.5 | 4.0 × 10−4 | 1.0 × 10−3 |
Numerous strains in the HMDP exhibit a null mutation for the Abcc6 gene that contributes to dystrophic cardiac calcinosis. A list of genes strongly associated with the Abcc6 null mutation in the HMDP is highly enriched with mitochondrial functions in the Gene Ontology pathways. This suggests that Abcc6 may reside in the mitochondria rather than in the cytoplasmic membrane as previously thought. Martin et al. (2012) proved this alternative localization to be correct.