TY  - JOUR
AU  - Topić, Aleksandra
AU  - Alempijević, Tamara
AU  - Sokić-Milutinović, Aleksandra
AU  - Kovačević, Nada
PY  - 2009
UR  - https://farfar.pharmacy.bg.ac.rs/handle/123456789/1185
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.
PB  - Taylor & Francis Ltd, Abingdon
T2  - Upsala Journal of Medical Sciences
T1  - Alpha-1-antitrypsin phenotypes in adult liver disease patients
VL  - 114
IS  - 4
SP  - 228
EP  - 234
DO  - 10.3109/03009730903243472
ER  - 

@article{
author = "Topić, Aleksandra and Alempijević, Tamara and Sokić-Milutinović, Aleksandra and Kovačević, Nada",
year = "2009",
abstract = "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.",
publisher = "Taylor & Francis Ltd, Abingdon",
journal = "Upsala Journal of Medical Sciences",
title = "Alpha-1-antitrypsin phenotypes in adult liver disease patients",
volume = "114",
number = "4",
pages = "228-234",
doi = "10.3109/03009730903243472"
}

Topić, A., Alempijević, T., Sokić-Milutinović, A.,& Kovačević, N.. (2009). Alpha-1-antitrypsin phenotypes in adult liver disease patients. in Upsala Journal of Medical Sciences
Taylor & Francis Ltd, Abingdon., 114(4), 228-234.
https://doi.org/10.3109/03009730903243472

Topić A, Alempijević T, Sokić-Milutinović A, Kovačević N. Alpha-1-antitrypsin phenotypes in adult liver disease patients. in Upsala Journal of Medical Sciences. 2009;114(4):228-234.
doi:10.3109/03009730903243472 .

Topić, Aleksandra, Alempijević, Tamara, Sokić-Milutinović, Aleksandra, Kovačević, Nada, "Alpha-1-antitrypsin phenotypes in adult liver disease patients" in Upsala Journal of Medical Sciences, 114, no. 4 (2009):228-234,
https://doi.org/10.3109/03009730903243472 . .