Table 1.
CTRC variants detected in German subjects with idiopathic or hereditary chronic pancreatitis and healthy controls
| Exon | Nucleotide change | Amino acid change | Affected individuals (ICP) | Affected individuals (HP) | Affected individuals (all) | Controls | P value | OR | 95% CI |
|---|---|---|---|---|---|---|---|---|---|
| 2 | c.103G>C | p.D35H | 0/758 (0%) | 0/143 (0%) | 0/901 (0%) | 1/2689 (0.04%) | 1.0 | - | - |
| 2 | c.103G>A | p.D35N | 0/758 (0%) | 0/143 (0%) | 0/901 (0%) | 1/2689 (0.04%) | 1.0 | - | - |
| 2 | c.110G>A | p.R37Q | 5/758 (0.7%) | 1/143 (0.7%) | 6/901 (0.7%) | 10/2689 (0.4%) | 0.25 | - | - |
| 3 | c.143A>G | p.Q48R | 0/758 (0%) | 2/143 (1.4%) | 2/901 (0.2%) | 1/2689 (0.04%) | 0.16 | - | - |
| 4 | c.308delG | p.G103VfsX31 | 0/499 (0%) | 1/122 (0.8%) | 1/621 (0.2%) | 0/614 (0%) | 1.0 | - | - |
| 6 | c.514A>G | p.K172E | 0/499 (0%) | 0/122 (0%) | 0/621 (0%) | 1/614 (0.2%) | 0.5 | - | - |
| 7 | c.649G>A | p.G217S | 2/758 (0.3%) | 0/143 (0%) | 2/901 (0.2%) | 1/2804 (0.04%) | 0.15 | - | - |
| 7 | c.652G>A | p.G218S | 0/758 (0%) | 0/143 (0%) | 0/901 (0%) | 1/2804 (0.04%) | 1.0 | - | - |
| 7 | c.659T>G | p.L220R | 0/758 (0%) | 0/143 (0%) | 0/901 (0%) | 1/2804 (0.04%) | 1.0 | - | - |
| 7 | c.674A>C | p.E225A | 0/758 (0%) | 0/143 (0%) | 0/901 (0%) | 1/2804 (0.04%) | 1.0 | - | - |
| 7 | c.703G>A | p.V235I | 1/758 (0.1%) | 0/143 (0%) | 1/901 (0.1%) | 1/2804 (0.04%) | 0.43 | - | - |
| 7 | c.760C>T | p.R254W | 13/758 (1.7%) | 6/143 (4.2%) | 19/901 (2.1%) | 18/2804 (0.6%) | 0.0004* | 3.3 | 1.7−6.4 |
| 7 | c.738_761del24 | p.K247_R254del | 11/758 (1.5%) | 0/143 (0%) | 11/901 (1.2%) | 3/2804 (0.1%) | 0.00003* | 11.5 | 3.2−41.5 |
P values were determined by Fisher's Exact Test.
*
all affected individuals against controls
ICP, idiopathic chronic pancreatitis; HP, hereditary chronic pancreatitis