A polymorphism of the alpha1-antitrypsin gene represents a risk factor for liver disease

Hepatology

Volumn 47, Issue 1, 2008, Pages 127-132

  Chappell, Sally ^a   Hadzic, Nedim ^b   Stockley, Robert ^c   Guetta Baranes, Tamar ^a   Morgan, Kevin ^a   Kalsheker, Noor ^a,d  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^b KING S COLLEGE HOSPITAL   (United Kingdom)

^c QUEEN ELIZABETH HOSPITAL   (United Kingdom)

^d NOTTINGHAM UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ALPHA1 ANTITRYPSIN GENE; ARTICLE; CHRONIC OBSTRUCTIVE LUNG DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; GENE; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; INFANT; LIVER DISEASE; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; REPORTER GENE; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; AGED; ALPHA 1 ANTITRYPSIN DEFICIENCY; GENETICS; GENOTYPE; MIDDLE AGED; NEWBORN; PHENOTYPE;

ALPHA 1 ANTITRYPSIN;

ADULT; AGED; AGED, 80 AND OVER; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; LIVER DISEASES; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; RISK FACTORS;

EID: 38649117259     PISSN: 02709139     EISSN: None     Source Type: Journal    
DOI: 10.1002/hep.21979     Document Type: Article

References (22)

1. Francavilla F, Castellanetta SP, Hadzic N, Chambers SM, Portmann B, Tung J, et al. Prognosis of alpha-1-antitrypsin deficiency-related liver disease in the era of paediatric liver transplantation. J Hepatol 2000;32:986-992.
2. Hinds R, Hadchouel A, Shanmugam NP, Al-Hussaini A, Chambers S, Cheeseman P, et al. Variable degree of liver involvement in siblings with PiZZ alpha1-antitrypsin deficiency-related liver disease. J Paediatr Gastroenterol Nutr 2006;43:136-138.
3. 1-antitrypsin deficiency - summary of an analysis of published genetic epidemiology surveys. Chest 2002;122:1818-1829.
4. Sveger T. Liver disease in α1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med 1976;294:1316-1321.
5. Sveger T, Eriksson S. The liver in adolescents with alpha1-antitrypsin deficiency. HEPATOLOGY 1995;22:514-517.
6. Elzouki AN, Eriksson S. Risk of hepatobiliary disease in adults with severe α1-antitrypsin deficiency (PiZZ): is chronic viral hepatitis B or C an additional risk factor for cirrhosis and hepatocellular carcinoma? Eur J Gastroenterol Hepatol 1996;8:989-994.
7. Hadzic N, Quaglia A, Mieli-Vergani G. Hepatocellular carcinoma in a 12 year-old girl with PiZZ alpha-1-antitrypsin deficiency [letter]. HEPATOLOGY 2006;43:194.
8. 1-antitrypsin deficiency, emphysema, and liver disease: genetic basis and strategies for therapy. J Clin Invest 1990;85:1343-1352.
9. 1-antitrypsin accumulation in the liver. Nature 1992;357:605-607.
10. 1-antitrypsin deficiency and estimates of fetal risk for disease. J. Med Genet 1987;24:52-59.
11. Porter CA, Mowat AP, Cook PJL, Hayner DWG, Shilkin KB, Williams R. α1-Antitrypsin deficiency and neonatal hepatitis. Br Med J 1972;3:435-438.
12. Chappell S, Daly L, Morgan K, Guetta-Baranes T, Roca J, Rabinovitch R, et al. Cryptic haplotypes of SERPIN A1 confer susceptibility to chronic obstructive pulmonary disease. Hum Mut 2006;27:103-109.
13. 1-antitrypsin gene in healthy controls and Z deficiency patients. Hum Mut 2004;24:535-536.
14. Hafeez W, Ciliberto G, Perlmutter DH. Constitutive and modulated expression of the human α1-antitrypsin gene. J Clin Invest 1992;89:1214-1222.
15. Perlmutter DH, Brodsky JL, Balistreri WF, Trapnell BC. Molecular pathogenesis of alpha-1-antitrypsin deficiency-associated liver disease: a meeting review. HEPATOLOGY 2007;45:1313-1323.
16. Teckman JH, An JK, Bloomenkamp K, Schmidt B, Perlmutter D. Mitochondrial autophagy and injury in the liver in α1-antitrypsin deficiency. Am J Physiol 2004;286:G851-G862.
17. Perlmutter DH. Liver injury in α1-antitrypsin deficiency: an aggregated protein induces mitochondrial injury. J Clin Invest 2002;110:1579-1583.
18. Mast SW, Diekman K, Karaveg K, Davis A, Sifers RN, Moremen KW. Edem2, a novel homolog of family 47 glycosidases is involved in ER-associated degradation of glycoproteins. Glycobiology 2005;15:421-436.
19. Hidvegi T, Schmidt BZ, Hale P, Perlmutter DH. Accumulation of mutant alpha-1-antitrypsin Z in the ER activates caspases-4 and -12, NFκB and BAP31 but not the unfolded protein response. J Biol Chem 2005:280:39002-39015.
20. Pittschieler K. Liver disease and heterozygous alpha-1-antitrypsin deficiency. Acta Paediatr Scand 1991;80:323-327.
21. Vechio FM, Fabiano A, Orsini G, Ragusa D, Massi G. Alpha-1-antitrypsin MZ phenotype and cryptogenic chronic liver disease in adults. Digestion 1983;27:100-104.
22. Zhou A, Stein PE, Huntington JA, Sivasothy P, Lomas DA, Carrell RW. How small peptides block and reverse polymerisation. J Mol Biol 2004; 342:931-941.