Table 2.
List of PBC-related HLA associations.
| Reference | Year | Total subjects (cases+controls) | Country | HLA associations |
|---|---|---|---|---|
| Uderhill et al. | 1992 | 321 | UK | DR8 |
| Morling et al. | 1992 | 1227 | Denmark | DR3 |
| Gregory et al. | 1993 | 493 | UK | DR8 |
| Onishi et al. | 1994 | 492 | Japan | DRB1*0803 |
| Begovich et al. | 1994 | 582 | US |
DRB1*0801
DRB1*0901 |
| Donaldson et al. | 2001 | 266 | UK |
DRB1*0801
DQA1*0401/DQB1*0402 DRB1*0101/DQA1*0401/DQB1*0402 |
| Stone et al. | 2002 | 370 | Canada | DRB1*08 |
| Wassmuth et al. | 2002 | 256 | Sweden |
DQB1*0402
DRB*08 |
| Invernizzi et al. | 2003 | 707 | Italy | DRB*11 |
| Invernizzi et al. | 2003 | 670 | Italy |
B*15
B*41 B*55 B*58 |
| Mullarkey et al. | 2005 | 453 | US |
DQB1*04
DRB1*0801 DQA1*0102 DQB1*0301 DQB1*0602 DRB1*1501 |
| Donaldson et al. | 2006 | 411 | UK | DQA1*0401 |
| Donaldson et al. | 2006 | 175 | Italy |
DQA1*0401
DQB1*0402 DRB1*08 DQB1*0301 DRB1*11 DRB1*13 |
| Donaldson et al. | 2006 | 350 | Italy |
DRB1*0801/DQA1*0401/DQB1*0402
DRB1*11/DQA1*0501/DQB1*0301 DRB1*13/DQA1*0103/DQB1*0603 |
| Donaldson et al. | 2006 | 648 | UK |
DQB1*0402
DRB1*08 DQB1*0301 DRB1*13 |
| Donaldson et al. | 2006 | 1296 | UK |
DQA1*0401/DQB1*0402
DRB1*0801/DQA1*0401/DQB1*0402 |
| Invernizzi et al. | 2008 | 2656 | Italy |
DRB1*08
DRB1*13 |
| Nakamura et al. | 2010 | 1184 | Japan |
DRB1*0405
DRB1*0803 DRB1*11 DRB1*1101 DRB1*1302 DRB1*1501 |
| Umemura et al. | 2012 | 752 | Japan |
DRB1*0405/DQB1*0401
DRB1*0803/DQB1*0601 DRB1*1101/DQB1*0301 DRB1*1302/DQB1*0604 |
| Liu et al. | 2012 | 11275 | UK |
DQA1*0401
DQB1*0402 DQB1*0302 DRB1*0404 DQB1*0602 DQB1*0301 DRB1*1501 DRB1*1101 DRB1*1104 DQA1*0102 DQA1*0501 |
| Invernizzi et al. | 2012 | 2116 | US |
DRB1*08
DRB1*14 DRB1*11 |
| Invernizzi et al. | 2012 | – | Italy |
DRB1*08
DRB1*14 DRB1*11 |
| Zhao et al. | 2014 | 645 | China |
DRB1*0701/DQB1*0202
DRB1*0803/DQB1*0601 DRB1*1202/DQB1*0301 |
| Almasio et al. | 2016 | 265 | Italy |
DRB1*07
DRB1*08 |
| Clemente et al. | 2017 | 218 | Sardinia | DRB1*0301/DQB1*0201 |
| Yasunami et al. | 2017 | 2392 | Japan |
DRB1*0405/DQB1*0401
DRB1*0803/DQB1*0601 DRB1*1302/DQB1*0604 DRB1*1403/DQB1*0301 Not(DRB1*1403)/DQB1*0301 |
| Darlay et al. | 2018 | 11275 | UK |
DPB1*0301
DPB1*0601 DPB1*1001 DPB1*1701 C*0401 DPA*0201 DPB1*0401 |
| Li et al. | 2022 | – | – |
DRB1*0701
DRB1*1401 DRB1*1405 |
Studies are ordered by year. HLA variants in bold represent predisposing associations, those underlined represent protective ones. Only significant associations (P<0.05) are reported. Approximately, the pre-GWAS era corresponds to years 1992-2009, while GWAS era starts from 2009; post-GWAs technologies have been employed in PBC from years 2021.