ABCMdb

PMID: 10681187

Pallares-Ruiz N, Carles S, des Georges M, Guittard C, Claustres M, Larrey D, Pageaux G
Is isolated idiopathic pancreatitis associated with CFTR mutations?
Gut. 2000 Jan;46(1):141., [PubMed]

Sentences

No. Mutations Sentence Comment

30 ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln It is unlikely, however, that this allele is a variant which predisposes towards idiopathic pancreatitis because it is carried on a TG11-M470 haplotype background, which is not a deleterious combination.3 Finally, when we screened the whole coding/flanking CFTR sequences of 10 random individuals, six polymorphisms/variants (125G/C and 875+40A/G twice, R75Q, 5T) and one cystic fibrosis mutation ( F508) were observed. Login to comment 51 ABCC7 p.Ile506Val Kimberg and coworkers1 2 and Klae- veman and colleagues3 have suggested that prostaglandins increase membrane bound adenylate cyclase activity in the small intestinal mucosa, and thus inhibit Na+ -K+ -ATPase activity of gut mucosa.4 5 Recently, Sundaram and colleagues6 reported that inflamed ileums (excess prostaglandin) express low levels of SGLT1 in rabbits, which indicates that Table 1 Characteristics of 10 patients with idiopathic pancreatitis Patient no Sex Current age Age at diagnosis CFTR genotypes Sequence changes IVS8 TGn-Tn 1540 A/G (M470V) 1 M 77 75 -/- TG11-T7/TG11-T7 G/G 2 F 52 41 3041-71A/G TG11-T7/TG11-T9 A/G 4002A/G 3 M 44 42 4404C/T TG10-T7/TG11-T7 A/G 4 F 70 69 875+40A/G TG11-T5/TG11-T7 A/G 5 M 62 61 125G/C TG11-T7/TG11-T7 G/G 6 F 52 50 1716G/A TG11-T5/TG10-T7 A/A 7 M 41 38 125G/C TG11-T7/TG12-T7 A/G 8 M 64 36 -/- TG10-T7/TG10-T9 A/A 9 M 72 69 I506V TG10-T7/TG11-T7 A/G 875+40A/G 10 F 18 NA -/- TG11-T7/TG12-T7 A/G NA, not available. Login to comment