PMID- 19961268
OWN - NLM
STAT- MEDLINE
DCOM- 20100222
LR  - 20211020
IS  - 2000-1967 (Electronic)
IS  - 0300-9734 (Print)
IS  - 0300-9734 (Linking)
VI  - 114
IP  - 4
DP  - 2009
TI  - Alpha-1-antitrypsin phenotypes in adult liver disease patients.
PG  - 228-34
LID - 10.3109/03009730903243472 [doi]
AB  - Alpha-1-antitrypsin (AAT) is an important serine protease inhibitor in humans. 
      Hereditary alpha-1-antitrypsin deficiency (AATD) affects lungs and liver. Liver 
      disease caused by AATD in paediatric patients has been previously well 
      documented. However, the association of liver disease with alpha-1-antitrypsin 
      gene polymorphisms in adults is less clear. Therefore, we aimed to study AAT 
      polymorphisms in adults with liver disease. We performed a case-control study. 
      AAT polymorphisms were investigated by isoelectric focusing in 61 patients with 
      liver cirrhosis and 9 patients with hepatocellular carcinoma. The control group 
      consisted of 218 healthy blood donors. A significant deviation of observed and 
      expected frequency of AAT phenotypes from Hardy-Weinberg equilibrium (chi-square 
      = 34.77, df 11, P = 0.000) in the patient group was caused by a higher than 
      expected frequency of Pi ZZ homozygotes (f = 0.0143 and f = 0.0005, respectively, 
      P = 0.000). In addition, Pi M homozygotes were more frequent in patients than in 
      controls (63% and 46%, respectively, P = 0.025). Our study results show that Pi 
      ZZ homozygosity in adults could be associated with severe liver disease. Presence 
      of Pi M homozygosity could be associated with liver disease via some mechanism 
      different from Z allele-induced liver damage through accumulation of AAT 
      polymers.
FAU - Topic, Aleksandra
AU  - Topic A
AD  - Institute of Medical Biochemistry, Faculty of Pharmacy, University of Belgrade, 
      Belgrade, Serbia. atopic@pharmacy.bg.ac.rs
FAU - Alempijevic, Tamara
AU  - Alempijevic T
FAU - Milutinovic, Aleksandra Sokic
AU  - Milutinovic AS
FAU - Kovacevic, Nada
AU  - Kovacevic N
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Sweden
TA  - Ups J Med Sci
JT  - Upsala journal of medical sciences
JID - 0332203
RN  - 0 (SERPINA1 protein, human)
RN  - 0 (alpha 1-Antitrypsin)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Alleles
MH  - Amino Acid Substitution
MH  - Carcinoma, Hepatocellular/blood/genetics
MH  - Case-Control Studies
MH  - Female
MH  - Gene Frequency
MH  - Heterozygote
MH  - Homozygote
MH  - Humans
MH  - Liver Cirrhosis/blood/etiology/genetics
MH  - Liver Diseases/blood/etiology/*genetics
MH  - Liver Neoplasms/blood/genetics
MH  - Male
MH  - Middle Aged
MH  - Phenotype
MH  - *Polymorphism, Genetic
MH  - alpha 1-Antitrypsin/blood/*genetics
MH  - alpha 1-Antitrypsin Deficiency/blood/complications/genetics
PMC - PMC2852779
EDAT- 2009/12/08 06:00
MHDA- 2010/02/23 06:00
PMCR- 2009/12/01
CRDT- 2009/12/08 06:00
PHST- 2009/12/08 06:00 [entrez]
PHST- 2009/12/08 06:00 [pubmed]
PHST- 2010/02/23 06:00 [medline]
PHST- 2009/12/01 00:00 [pmc-release]
AID - UPS_A_424521_O [pii]
AID - 10.3109/03009730903243472 [doi]
PST - ppublish
SO  - Ups J Med Sci. 2009;114(4):228-34. doi: 10.3109/03009730903243472.