Genetic epidemiology of primary sclerosing cholangitis

Table 1 Candidate gene studies performed in PSC

Gene	Chromosome	N (PSC)	Primary finding	Reference	Replicationfinding	Reference
IL-1	2q	40	Negative	[76]	Negative	[77]
IL-10	1q	96	Negative	[77]	Negative	[55]
MMP1	11q	165	Negative	[78]	NA	-
MMP3	11q	111	Positive	[79]	Negative	[78]
CCR5	3p	71	Positive	[80]	Negative	[33]
ICAM-1	19p	104	Positive	[81]	Negative	[82]
CFTR	7q	29	Negative	[83]	Negative	[84,85]
MDR3	7q	37	Negative	[86]	Negative	[87]
BSEP	2q	37	Negative	[86]	NA	-
AIRE	21q	60	Negative	[88]	NA	-
NRAMP1	2q	40	Negative	[89]	NA	-
CTLA4	2q	144	Negative	[90]	NA	-
FOXP3	X	195	Negative	[91]	NA	-