Polymorphism in the endoplasmic reticulum mannosidase I (MAN1B1) gene is not associated with liver disease in individuals homozygous for the Z variant of the alpha1-antitrypsin protease inhibitor (PiZZ individuals)

Hepatology

Volumn 50, Issue 4, 2009, Pages 1315-

  Chappell, Sally ^a   Guetta Baranés, Tamar ^a   Hadzic, Nedim ^b   Stockley, Robert ^c   Kalsheker, Noor ^a  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^b KING S COLLEGE HOSPITAL   (United Kingdom)

^c QUEEN ELIZABETH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOPLASMIC RETICULUM MANNOSIDASE 1; FATTY ACID BINDING PROTEIN; TRYPSIN INHIBITOR; UNCLASSIFIED DRUG; ALPHA 1 ANTITRYPSIN; MANNOSIDASE; MANNOSYL OLIGOSACCHARIDE 1,2 ALPHA MANNOSIDASE; MANNOSYL-OLIGOSACCHARIDE 1,2-ALPHA-MANNOSIDASE;

ALPHA 1 ANTITRYPSIN DEFICIENCY; CHRONIC OBSTRUCTIVE LUNG DISEASE; DISEASE SEVERITY; ENZYME POLYMORPHISM; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; LETTER; LIVER DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; GENETICS; HOMOZYGOTE; INFANT; NOTE; SINGLE NUCLEOTIDE POLYMORPHISM;

ALPHA 1-ANTITRYPSIN; GENOTYPE; HOMOZYGOTE; HUMANS; INFANT; LIVER DISEASES; MANNOSIDASES; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 70350068020     PISSN: 02709139     EISSN: None     Source Type: Journal    
DOI: 10.1002/hep.23170     Document Type: Letter

References (2)

1. Pan S, Huang L, McPherson J, Muzny D, Rouhani F, Brantly M, et al. Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency. HEPATOLOGY 2009;50:275-281.
2. Chappell S, Hadzic N, Stockly R, Guetta-Baranes T, Morgan K, Kalsheker N. A polymorphism of the alpha1-antitrypsin gene represents a risk factor for liver disease. HEPATOLOGY 2008;47:127-132.