ABCMdb

PMID: 17981921

Chang YT, Chang MC, Su TC, Liang PC, Su YN, Kuo CH, Wei SC, Wong JM
Association of cystic fibrosis transmembrane conductance regulator (CFTR) mutation/variant/haplotype and tumor necrosis factor (TNF) promoter polymorphism in hyperlipidemic pancreatitis.
Clin Chem. 2008 Jan;54(1):131-8. Epub 2007 Nov 2., [PubMed]

Sentences

No. Mutations Sentence Comment

8 ABCC7 p.Ile556Val The CFTR gene mutations were all Ile556Val. Login to comment 75 ABCC7 p.Ile556Val The only CFTR mutation hot spot was in codon 556 (Ile556Val), and of the 13 patients with this substitution, 12 had HLP. Login to comment 115 ABCC7 p.Ile556Val In contrast, the Ile556Val CFTR missense mutation was the most common mutation in our HLP patients. Login to comment 116 ABCC7 p.Ile556Val The Ile556Val mutation has a mild effect among CFTR mutations and appears to be associated with the pancreatitis phenotype (28). Login to comment 118 ABCC7 p.Ile556Val Ile556Val was also reported to be associated with chronic pulmonary disease in Singapore (30). Login to comment 119 ABCC7 p.Ile556Val The frequency of the Ile556Val mutation in our HLP patients was 26.1% (12 of 46). Login to comment 120 ABCC7 p.Ile556Val Interestingly, Ile556Val was also the most frequent CFTR mutation in our patients with idiopathic chronic pancreatitis (15). Login to comment 121 ABCC7 p.Ile556Val The frequency of the Ile556Val CFTR mutation in our healthy control population was about 1% (1 in 200) (15), similar to the frequency in our HTG patients without HLP (1.3%, 1 of 80). Login to comment 122 ABCC7 p.Ile556Val Because the TG concentrations in our chronic pancreatitis cohort were within the TG reference interval, HTG is not likely associated with the CFTR Ile556Val mutation. Login to comment 123 ABCC7 p.Ile556Val ABCC7 p.Ile556Val Furthermore, the mean TG concentration in our HLP patients with the Ile556Val mutation was not significantly different from that of patients without the Ile556Val mutation. Login to comment