ABCMdb

PMID: 17238030

Naruse S, Fujiki K, Ishiguro H
Is genetic analysis helpful for diagnosing chronic pancreatitis in its early stage?
J Gastroenterol. 2007 Jan;42 Suppl 17:60-5., [PubMed]

Sentences

No. Mutations Sentence Comment

43 ABCC7 p.Arg1453Trp ABCC7 p.Gln1352His In an initial screening study, common CF-causing mutations were not identified in either patients with chronic pancreatitis or control subjects.28 However, non-CF causing mutations (Q1352H and R1453W) are highly associated with chronic pancreatitis. Login to comment 44 ABCC7 p.Gln1352His Furthermore, these mutations are on the same allele as the M470V variant, which has low (~60%) intrinsic chloride channel activities.29 The Q1352H mutation in the M470 background causes a 60%-80% reduction in CFTR-dependent Cl- currents and completely abolishes them in the M470V variant.30 Therefore, as in whites, CFTR mutations/polymorphisms are likely to be associated with chronic pancreatitis in Japanese, although mutations may differ depending on ethnic origins. Login to comment 58 ABCC7 p.Arg1453Trp His genetic analysis revealed the R1453W mutation in the CFTR gene but none in the PSTI gene. Login to comment