PMID: 16207846

Drumm ML, Konstan MW, Schluchter MD, Handler A, Pace R, Zou F, Zariwala M, Fargo D, Xu A, Dunn JM, Darrah RJ, Dorfman R, Sandford AJ, Corey M, Zielenski J, Durie P, Goddard K, Yankaskas JR, Wright FA, Knowles MR
Genetic modifiers of lung disease in cystic fibrosis.
N Engl J Med. 2005 Oct 6;353(14):1443-53., 2005-10-06 [PubMed]
Sentences
No. Mutations Sentence Comment
76 ABCC7 p.Gly1237Ala
X
ABCC7 p.Gly1237Ala 16207846:76:414
status: NEW
view ABCC7 p.Gly1237Ala details
 * Gene andReference†Variant‡ReferenceSNP Impairmentof LungFunctionGenotype Patientswith theGenotypeGenotype Patientswith theGenotypeGenotype Patientswith theGenotype Number ofPatients P Value§ %%% a1AP4-8Sallele17580SevereAA91.5AT8.5TT02601.00 (T2313A)MildAA91.4AT8.5TT0.2544 ZalleleNoneSevereGG96.0GA4.0AA02520.39 (G4627A)MildGG97.2GA2.8AA0529 3'enhancer11568814SevereGG85.8GA13.5AA0.82600.75 (G1237A)MildGG84.7GA14.7AA0.6544 ACE9DorIdeletionNASevereDD39.3DI39.3II21.42620.32 MildDD38.2DI44.7II17.1544 ADRb210(A46G)1042713SevereGG39.1GA48.5AA12.32350.62 MildGG41.7GA48.0AA10.3506 (C79G)1042714SevereCC26.8CG56.6GG16.62350.45 MildCC29.9CG51.6GG18.5508 GSTM111,13NulldeletionNASevereDD52.1--DN/NN47.92610.50 MildDD54.9--DN/NN45.1539 GSTP113(A1375G)947894SevereAA46.2AG44.2GG9.62600.81 MildAA44.0AG45.1GG10.9543 IL109(G-1082A)1800896SevereGG23.1GA55.4AA21.52600.96 MildGG24.1GA55.0AA21.0544 MBL214-18O¶NASevereAA59.5AO35.5OO5.02620.58 MildAA58.2AO37.5OO4.3536 XA/O¿NASevereOther85.8XA/O9.2O/O5.02621.00 MildOther85.6XA/O10.0O/O4.3536 NOS319T5220G1799983SevereGG43.5GT45.8TT10.82600.54 MildGG46.0GT41.7TT12.3544 TGFb19,20**Promoter1800469SevereCC43.8CT43.8TT12.32600.006 (C-509T)MildCC50.4CT43.8TT5.9544 Codon101982073SevereTT34.0TC46.3CC19.72590.0008 (C29T)††MildTT41.4TC48.4CC10.1543 Codon251800471SevereGG82.2GC17.4CC0.42590.06 (G74C)MildGG87.7GC11.6CC0.7544 TNFa9,12Promoter1800629SevereGG68.1GA29.0AA2.92380.91 (G-308A)MildGG68.7GA27.7AA3.6505 seen only for TGFb1 variants; the codon 10 variant hadamultiple-comparisoncorrectedPvalueof0.01 (the most significant association among the 16 in Table 2). Login to comment