PMID: 19844201

Cavestro GM, Zuppardo RA, Bertolini S, Sereni G, Frulloni L, Okolicsanyi S, Calzolari C, Singh SK, Sianesi M, Del Rio P, Leandro G, Franze A, Di Mario F
Connections between genetics and clinical data: Role of MCP-1, CFTR, and SPINK-1 in the setting of acute, acute recurrent, and chronic pancreatitis.
Am J Gastroenterol. 2010 Jan;105(1):199-206. Epub 2009 Oct 20., [PubMed]
Sentences
No. Mutations Sentence Comment
90 ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 19844201:90:114
status: NEW
view ABCC7 p.Ile148Thr details
 Seven patients were heterozygous for the ΔF508 gene mutation; one patient was compound-heterozygous for the I148T and 711+1GtoT gene mutations. Login to comment 114 ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 19844201:114:1295
status: NEW
view ABCC7 p.Ile148Thr details
 Endogenous and exogenous factors in ARP patients Sex Age Pancreas divisum SPINK-1 N34S mutation CFTR gene mutations MCP-1 G polymorphism Alcohol ≤10g/day Alcohol 10-40g/day Alcohol >40g/day M 39 Yes wt/wt No G/G (10-40) M 18 No N34S/wt No A/G ≤10 F 20 Yes wt/wt No A/G ≤10 F 27 No wt/wt No A/G ≤10 M 39 No wt/wt delF508/wt A/G (10-40) M 26 No wt/wt No A/G >40 M 30 No wt/wt No A/G ≤10 M 49 No wt/wt No A/G (10-40) F 33 Yes wt/wt No A/G ≤10 F 22 No wt/wt No A/G ≤10 F 31 Yes wt/wt No A/G ≤10 M 74 No wt/wt No A/G ≤10 F 35 No wt/wt No A/G ≤10 M 33 No wt/wt delF508/wt A/G ≤10 M 46 No wt/wt No A/G ≤10 M 40 No wt/wt No A/G ≤10 F 60 No wt/wt No G/G ≤10 M 50 No wt/wt No A/G ≤10 F 43 No wt/wt No A/G ≤10 M 23 No wt/wt No A/G ≤10 M 23 No wt/wt No A/G >40 F 55 No wt/wt No A/G ≤10 M 48 No wt/wt No A/G ≤10 M 50 No wt/wt No A/G >40 M 37 No wt/wt No A/G >40 M 33 No wt/wt delF508/wt A/G >40 F 33 No wt/wt No A/G ≤10 F 36 No wt/wt No G/G ≤10 F 64 No wt/wt delF508/wt A/G ≤10 M 28 No wt/wt No A/G (10-40) M 68 No wt/wt No G/G ≤10 F 46 No wt/wt No G/G ≤10 M 22 No wt/wt No A/G (10-40) F 21 No wt/wt delF508/wt A/G ≤10 M 37 No wt/wt I148T/wt and 711+1GtoT/wt A/G >40 F 34 No wt/wt No A/G ≤10 M 62 No delF508/wt A/G (10-40) F 32 No wt/wt No A/G ≤10 M 31 No wt/wt delF508/wt A/A ≤10 M 34 Yes wt/wt No A/A ≤10 ARP, acute recurrent pancreatitis. Login to comment 125 ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 19844201:125:363
status: NEW
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 Furthermore, we found that 18 ARP patients (28.1%) were alcohol consumers with a mean intake of 57.1±48.8g/day. Only five (7.8%) of them had daily alcohol intake≥80g/dayandtheyallpossessedtheGalleleoftheMCP-1 gene. Two of these patients also had the CFTR heterozygous genemutation:onewithΔF508mutationandtheotheronewith compound heterozygosity (I148T; 711+1GtoT). Login to comment