PMID: 25569187

LaRusch J, Lozano-Leon A, Stello K, Moore A, Muddana V, O'Connell M, Diergaarde B, Yadav D, Whitcomb DC
The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population.
Clin Transl Gastroenterol. 2015 Jan 8;6:e68. doi: 10.1038/ctg.2014.13., [PubMed]
Sentences
No. Mutations Sentence Comment
117 ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 25569187:117:339
status: NEW
view ABCC7 p.Arg75Gln details
ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 25569187:117:1322
status: NEW
view ABCC7 p.Arg75Gln details
 Table 3 Demographics, alcohol consumption, smoking, etiology, and status of other genetic mutations (CFTR, SPINK1) in carriers of CTRC mutations in NAPS2 cohort Diagnosis Enrollment age Sex CTRC SPINK1 CFTR Etiology AP.dx age CP.dx age Smoker Drinker Drinker type CP 53 F K247_R254DEL wt wt Alcohol 45 53 Current Ex Heavy CP 61 M R254W wt R75Q Alcohol - 51 Current Current Very heavy RAP 42 F R254W wt wt Alcohol 39 - Ex Current Heavy CP 56 M R254W wt wt Alcohol 39 40 Ex Ex Very heavy CP 31 M R254W N34S F508del Alcohol - 20 Ex Ex Mod RAP 32 F K247_R254DEL wt wt Gallstones 20 - Current Ex Heavy RAP NA M R254W wt wt NA NA - NA NA NA CP 46 M R254W wt wt Idiopathic 28 44 Current Current Light CP 33 M R254W wt wt Idiopathic 27 28 Current No - CP 66 M R254W wt wt Idiopathic 60 62 Ex Ex NA CP 64 F R254W wt wt Idiopathic - 61 Ex No - RAP 43 F R254W wt F508del Idiopathic 42 - No Current Light CP 40 F A73T wt wt Idiopathic - 40 No Ex Mod CP 44 M R254W wt wt Genetic 42 44 No No - CP 6 F R254W N34S/N34S wt Genetic 4 5 No No - Family 37 F R254W N34S wt - - - Ex Current Heavy Control 47 M R254W wt wt - - - Ex Ex Very heavy Control 29 F R254W wt wt - - - No Current Light CP 51 M c.640-12G4A wt NA Alcohol 49 49 Current Current Very heavy CP 56 F c.640-42G4C wt NA Obstructive 56 56 Ex Current Light CP NA M c.640-42G4C wt R75Q Alcohol 51 51 Current Ex Very heavy Family 60 M c.640-42G4C wt NA - - - Ex Current Light AP, acute pancreatitis; CP, chronic pancreatitis; CTRC, chymotrypsinogen C; F, female; M, male; NA, data not available; RAP, recurrent acute pancreatitis; wt, genotyping revealed no mutation. Login to comment