Table 1

Distribution of (A) rare variants and (B) common synonymous variants in CTRC gene in chronic pancreatitis patients and normal subjects

Region	Nucleotide change	Amino acid change	TCP (%)^†	ICP (%)^†	Total CP (%)^†	Controls (%)^†	OR (95% CI)	p Value
(A)
Exon 3	c.143A>G	p.Q48R	1/497 (0.2)	0/87 (0)	1/584 (0.2)	0/598 (0)	–	NA
Exon 3	c.217G>A	p.A73T	13/497 (2.6)	5/87 (5.8)	18/584 (3.1)	2/598 (0.3)	9.48 (2.19 to 41.03)	2.5×10⁻⁴
Exon 4	c.338G>A^*	p.W113X	0/477 (0)	1/87 (1.2)	1/564 (0.2)	0/598 (0)	–	NA
Exon 6	c.514G>A	p.K172E	3/479 (0.6)	0/87 (0)	3/566 (0.5)	4/598 (0.6)	–	0.76
Intron 6	c.640-34delG^*	–	7/488 (1.4)	2/87 (2.3)	9/575 (1.6)	7/598 (1.2)	–	0.74
Intron 6	c.640-34insG^*	–	4/488 (0.8)	1/87 (1.2)	5/575 (0.9)	2/598 (0.3)	–	0.42
Intron 6	c.640-6G>A^*	–	2/488 (0.4)	0/87 (0)	2/575 (0.4)	0/598 (0)	–	0.46
Exon 7	c.703G>A	p.V235I	26/488 (5.3)	2/87 (2.3)	28/575 (4.9)	4/598 (0.7)	7.60 (2.52 to 25.71)	1.0×10⁻⁵
Exon 7	c.725delG^*	p.G242AfsX9	1/488 (0.2)	0/87 (0)	1/575 (0.2)	0/598 (0)	–	NA
Exon 7	c.736C>T^*	p.R246C	0/488 (0)	0/87 (0)	0/575 (0)	2/598 (0.3)	–	NA
Exon 7	c.760C>T	p.R254W	2/488 (0.4)	1/87 (1.2)	3/575 (0.5)	1/598 (0.2)	–	0.59
Exon 7	c.769G>A^*	p.A257T	1/488 (0.2)	0/87 (0)	1/575 (0.2)	0/598 (0)	–	NA
(B)
Exon 3	c.180C>T	p.(=)	162/497 (32.6)	29/87 (33.3)	191/584 (32.7)	91/598 (15.2)	2.71 (1.79 to 4.12)	5.3×10⁻⁷
Exon 4	c.285C>T	p.(=)	27/477 (5.7)	4/87 (4.6)	31/564 (5.5)	35/594 (5.9)	–	0.80

↵* Novel variants.
↵† Carrier frequency.
CP, chronic pancreatitis; ICP, idiopathic chronic pancreatitis; NA, not analysed (since the variant is present only in patients or in normal subjects); TCP, tropical calcific pancreatitis.