Table 3.

Comparison of Variants in Chronic Pancreatitis/Acute Recurrent Pancreatitis and Controls

Gene	# Mutations	# with CP	Mutations	Patients	Controls (ExAC database)	ExAC P value	ExAC OR (95% CI)
CFTR	1	1/1	p.R170H (het)	1/45	29/59247	0.02	46.41 (6.19 – 348.19)
	1	1/1	p.D1152H (het)	1/45	16/60518	0.01	85.94 (11.15 – 662.12)
	6	3/6	p.Phe508del (het)	6/45	412/60648	<0.0001	22.49 (9.47 – 53.42)
	1	0/1	p.l1139V (het)	1/45	4/60623	0.004	344.43 (37.74 – 3143.31)
	1	1/1	p.Y1032C (het)	1/45	2/60441	0.002	686.81 (61.16 – 7712.82)
	1	1/1	p.R1070W (het)	1/45	3/60030	0.003	454.75 (46.40 – 4456.59)
	1	1/1	p.F508C (het)	1/45	58/59827	0.04	23.42 (3.17 – 172.84)
	1	0/1	p.G576A (het)	1/45	312/60282	0.21	4.37 (0.60 – 31.81)
	1	1/1	p.R1070Q (het)	1/45	49/60049	0.04	27.83 (3.76 – 206.00)
	1	0/1	p.S895N (het)	1/45	20/60586	0.02	68.83 (9.04 – 524.04)
	1	0/1	p.R117H (het)	1/45	93/60180	0.07	14.68 (2.00 – 107.69)
	1	0/1	p.L375F (het)	1/45	2/55949	0.002	635.76 (56.61 – 7139.59)
	1	0/1	p.S1235R (het)	1/44	300/60091	0.20	4.64 (0.64 – 33.77)
	1	1/1	p.L997F (het)	1/44	127/60348	0.09	11.03 (1.51 – 80.69)
	1	1/1	p.L967S (het)	1/44	127/60348	0.09	11.03 (1.51 – 80.69)
PRSS1	1	0/1	p.A16V (het)	1/44	968/60321	0.51	1.43 (0.20 – 10.37)
	1	0/1	P.R122H (het)	1/44	2/60672	0.002	705.47 (62.79 – 7925.68)
SPINK1	10	4/10	p.N34S (het)	10/44	552/55901	<0.0001	29.49 (14.50 – 59.99)
	1	1/1	c.-53C>T (het)	1/44	NR	--	--
	1	0/1	c.55+1G>A (het)	1/44	NR	--	--
CTRC	1	0/1	p.R254W (het)	1/27	243/60581	0.10	10.35 (1.39 – 76.78)
	1	0/1	p.K247_R254del (het)	1/27	NR	--	--
Gene	# VUCS	# with CP	VUCS	Patients	Controls (ExAC database)	ExAC P value	ExAC OR (95% CI)
CFTR	1	1/1	p.V11l (het)	1/44	10/60437	0.008	140.53 (17.60 – 1121.77)
	1	0/1	p.R668C (het)	1/44	370/60076	0.24	3.75 (0.52 – 27.32)
PRSS1			None
SPINK1	1	1/1	c.194+184T>A (het)	1/44	NR	--	--
CTRC			None

CP, chronic pancreatitis; VUCS, variant of unknown clinical significance

ExAC, Exome Aggregation Consortium database established by the Broad Institute (http://exac.broadinstitute.org/)