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Table 4 Mutations detected in the SPINK 1, CFTR, CTRC genes in correlation with clinical data

From: Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis

Gene mutation No. of patients BMI Alcohol abuse (≥40 g daily) Cigarette smoking (currently) Pancreatic diseases in family Concomitant diseases Recurrences
SPINK1 p.N34S c.101A > G exon 3 12 (5.42 %)       
1   26.0 Yes No No None Yes
2   20.2 Yes No No None No
3   29.8 No No   None No
4   24.0 No No No cardiovascular diseases, atherosclerosis, Parkinson’s disease No
5   29.4 No No No None No
6   23.4 Yes Yes No None Yes
7   22.4 Yes Yes No gallstones, gastroesophageal reflux disease, psychoorganic syndrome No
8   27.7 No No No None No
9   26.4 No Yes Yes arterial hypertension Yes
10   25.4 No No No None Yes
11   30.1 Yes Yes No arterial hypertension, type-2 diabetes No
12   26.6 Yes No No None No
SPINK1 p.P55S c.163C> 2 (0.9 %)       
1   27.0 Yes No No None  
2   19.0 No No No cardiovascular diseases, gallstones No
CFTRp.F508del (delF508) c.1521_1523 delCTT C > T exon 3 5 (2.3 %)       
1   20.2 No No Yes cardiovascular diseases No
2   26.4 No No No arterial hypertension Yes
3   25.6 No No No arterial hypertension No
4   19.2 No No No pancreatic cancer No
5   26.0 Yes Yes No None No
CTRC p.V235I c.703G > A exon 7 2 (0.9 %)       
1   23.4 Yes Yes No None No
2   22.9 Yes Yes No None Yes
p.I259V c.775A > C exon 7 1 (0.5 %)       
1   27.0 No No Yes   Yes
p.K247_R254 delc.738_761del24 exon 7 1 (0.5 %)       
1   26.2 No No No None No