Table 1.
Positive and negative genes in primary biliary cirrhosis (PBC) and systemic sclerosis (SSc)
| Gene | Primary biliary cirrhosis | Systemic sclerosis |
|---|---|---|
| HLA | ||
| DR8 | + | − |
| DR11 | − | + |
| DQB1 | + | + |
| DRB1 | + | + |
| DQA2 | + | − |
| DQA1 | + | + |
| Non-HLA | ||
| IRF5 | +* | + |
| STAT4 | + | + |
| PTPN22 | − | + |
| SPIB | +* | − |
| BANK1 | − | + |
| IL12A | +* | − |
| IL12RB | + | − |
| MMEL1 | + | − |
| IL-23R | − | + |
| TNSF4 | − | + |
| CXCR5 | + | − |
| NKFB1 | + | − |
The major positive and negative genetic associations found for HLA and non-HLA genes identified in PBC and SSc are presented in simplified form. In a shared gene hypothesis, individuals with genetic characteristics shared between the two diseases, maybe at risk of developing one disease in addition to the other (such as STAT4). Likewise, certain genes infer susceptibility to only one disease in isolation (such as PTPN22 in SSc). As well, some genes may be positively associated with one disease, but protective against another disease (such as DR11 in PBC)
* No association found in Japanese patients: note that no consensus between studies has been reached for all genes and the most representative associations (positive or negative) are presented