ABCMdb

PMID: 16179637

Plant BJ, Gallagher CG, Bucala R, Baugh JA, Chappell S, Morgan L, O'Connor CM, Morgan K, Donnelly SC
Cystic fibrosis, disease severity, and a macrophage migration inhibitory factor polymorphism.
Am J Respir Crit Care Med. 2005 Dec 1;172(11):1412-5. Epub 2005 Sep 22., 2005-12-01 [PubMed]

Sentences

No. Mutations Sentence Comment

77 ABCC7 p.Arg117His ABCC7 p.Arg117His Inclusion of heterozygosity for the CFTR mutation R117H in the regression model confirmed previous reports of pancreas-sparing with this mutation (OR, 0.04; 95% CI, 0.01-0.24), but the protective effects of the MIF5-CATT genotypes remained after adjusting for R117H heterozygosity. Login to comment 85 ABCC7 p.Gly551Asp ABCC7 p.Arg117His After DF508, the commonest variant alleles were G551D (18 alleles) and R117H (10 alleles). Login to comment 112 ABCC7 p.Arg117His ABCC7 p.Arg117His Although pancreatic sufficiency is seen in patients with the R117H mutation (13, 32, 33), it should be noted that, in this study, there was a total of 10 R117H alleles of which five were in the 5-CATT repeat group and five in the non-5-CATT group. Login to comment 113 ABCC7 p.Arg117His Inclusion of this CFTR mutation in the regression model confirmed previous reports of pancreas-sparing with this mutation, but the protective effects of the MIF5-CATT genotypes remained after adjusting for R117H heterozygosity. Login to comment 114 ABCC7 p.Ala455Glu Recent work has suggested that the A455E (30, 34), 3849ϩ10 kb C→T (30, 35), and 2789ϩ5G→A (30, 36) are associated with mild clinical manifestations; these CFTR mutations were not seen in our patient population. Login to comment