Primary Sclerosing Cholangitis
Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS.
More details about the regions are available here.
| Region | Position | Genes | Markers | Diseases |
|---|---|---|---|---|
| PSC 1p36.32 | chr1:2431888-2879054 | TNFRSF14 MMEL1 | rs3748816 | |
| PSC 2q33.2 | chr2:203581104-203858418 | CD28 | rs7426056 | |
| PSC 3p21.31 | chr3:48465783-50711580 | MST1 | rs3197999 | |
| PSC 4q27 | chr4:122047009-122646623 | IL21 IL2 | rs13140464 | |
| PSC 6q15 | chr6:90298308-90382971 | BACH2 | rs56258221 | |
| PSC 10p15.1 | chr10:5988280-6132638 | IL2RA | rs4147359 | |
| PSC 11q23.1 | chr11:111449004-112118869 | SIK2 | rs7937682 | |
| PSC 12q24.12 | chr12:111278572-112592683 | ATXN2 SH2B3 | rs3184504 | |
| PSC 12q13.11 | chr12:47788458-47837647 | HDAC7 | rs11168249 | |
| PSC 18q22.2 | chr18:69836289-69902924 | CD226 | rs1788097 | |
| PSC 19q13.32 | chr19:46648121-46811943 | STRN4 PRKD2 | rs60652743 | |
| PSC 21q22.2 | chr21:39081110-39111851 | PSMG1 | rs2836883 |
| Study ID | Title | Publication | Diseases |
|---|---|---|---|
| 032 | Immunochip | Liu Nat. Genet., 2013-04-21 |