Table 3.
PBC genetic and environmental bases recognize three bases with an earlier rapid development of descriptive data on familial PBC and twin concordance subsequently followed by a slower phase with unconclusive association studies while recapitulation of the role of sex chromosome, xenobiotics, and bacteria is awaited. Epigenetic studies may constitute the key to a awaited third phase.
| Reference | |||
|---|---|---|---|
| Phase 1 | Earlier breakthrough | Familial PBC | (4) |
| Twin concordance | (98) | ||
| Risk factors | (9) | ||
| Phase 2 | Later developments | HLA/non-HLA associations | (99) |
| X chromosome defects | (100) | ||
| Bacterial candidates | (101) | ||
| Xenobiotic reactivity | (56) | ||
| Phase 3 | What is next? | Genome-wide association studies | |
| Spontaneous animal models | |||
| Epigenetic studies | |||
| Recapitulation of bacteria and chemicals |