PMID: 12689922

Frangolias DD, Ruan J, Wilcox PJ, Davidson AG, Wong LT, Berthiaume Y, Hennessey R, Freitag A, Pedder L, Corey M, Sweezey N, Zielenski J, Tullis E, Sandford AJ
Alpha 1-antitrypsin deficiency alleles in cystic fibrosis lung disease.
Am J Respir Cell Mol Biol. 2003 Sep;29(3 Pt 1):390-6. Epub 2003 Apr 14., [PubMed]
Sentences
No. Mutations Sentence Comment
82 ABCC7 p.Gly1237Ala
X
ABCC7 p.Gly1237Ala 12689922:82:285
status: NEW
view ABCC7 p.Gly1237Ala details
Stepwise linear regression analysis was used to predict %change in ␣1-AT and parameters used included current age, sex, CF diagnosis age, CFTR genotype, TABLE 2 Clinical characteristics of study subjects stratified by ␣1-AT 3Ј G1237 →A genotype Total G1237G G1237A or A1237A P value Sex, M/F 379/337 331/283 48/54 0.20 Age, yr 22.8 (0.4) 22.7 (0.4) 23.5 (1.2) 0.49 CFTR genotype (⌬F508/⌬F508; ⌬F508/other; other/other) 391/296/72 343/244/60 48/52/12 0.14 Age of CF diagnosis, yr 4.7 (0.3) 4.6 (0.3) 5.4 (0.9) 0.38 %predFEV1 64.8 (0.9) 64.9 (1.0) 63.7 (2.3) 0.64 BMI, kg/m2 20.3 (0.2) 20.4 (0.2) 20.0 (0.4) 0.49 Pancreatic sufficiency status (sufficient/insufficient) 119/649 95/561 24/88 0.05 No. of P. aeruginosa-positive/not colonized 478/85 416/70 62/15 0.23 Age of first infection with P. aeruginosa 11.1 (0.5) 11.3 (0.5) 10.0 (1.1) 0.36 Age of chronic P. Aeruginosa infection 14.4 (0.8) 14.5 (0.9) 13.6 (1.6) 0.71 Frequency of intravenous treatment/yr 0.9 (0.1) 0.9 (0.1) 0.9 (0.2) 0.86 Days of intravenous treatment/yr 13.7 (1.2) 13.5 (1.6) 15.4 (4.5) 0.60 Dead or lung transplanted/alive 63/644 53/551 10/92 0.71 The study sample varied between 713 and 716 for univariate analyses. For analysis of age of first infection with P. aeruginosa and P. aeruginosa status, the study sample size was 461 and 555, respectively. For analysis of age of chronic infection with P. aeruginosa, the study sample was 159. Login to comment